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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9B_chr18_79064394_79383283 | 79356900 | T | TCCGTGTG others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(70): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0002a0001c0003t0002a0001c0004t0002others(8): Show | a0001c0001t0002g0079a0001c0003t0002g0135a0001c0003t0002g0149others(70): Show | 73 | 298 | 0.2450 | 14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79356900 | T | TCTGTGTG others(7): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0049 | 2 | 298 | 0.0067 | 14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357460 | T | TCCGTGTG others(7): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0176 | 1 | 298 | 0.0034 | 14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357460 | T | TCTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 298 | 0.0034 | 14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357538 | T | TCTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0171 | 1 | 298 | 0.0034 | 14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357616 | T | TCCGTGTG others(7): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01981.hp2 HG02056.hp2 others(19): Show |
a0001a0002a0005others(2): Show | a0001c0003a0001c0004a0001c0006others(5): Show | a0001c0003t0003a0001c0003t0011a0001c0003t0013others(7): Show | a0001c0003t0003g0121a0001c0003t0003g0123a0001c0003t0003g0124others(19): Show | 22 | 298 | 0.0738 | 14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357694 | T | TCCGTGTG others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 298 | 0.0034 | 14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357896 | T | TCTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02155.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001a0002c0005t0004 | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0014others(7): Show | 10 | 298 | 0.0336 | 14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79358488 | T | TCCGTGTG others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show |
a0002a0005 | a0002c0032a0005c0009 | a0002c0032t0005a0005c0009t0005 | a0002c0032t0005g0195a0005c0009t0005g0165a0005c0009t0005g0166others(3): Show | 6 | 298 | 0.0201 | 14 | c.290 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79358724 | C | CGTGTGAG others(7): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 298 | 0.0034 | 14 | c.290 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79376172 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 NA19030.hp1 |
a0001a0003 | a0001c0014a0003c0007 | a0001c0014t0006a0003c0007t0004 | a0001c0014t0006g0017a0001c0014t0006g0093a0003c0007t0004g0287 | 3 | 298 | 0.0101 | 14 | c.330 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79376214 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03139.hp2 HG03209.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0010a0005c0016 | a0001c0001t0001a0001c0010t0001a0005c0016t0001 | a0001c0001t0001g0011a0001c0001t0001g0029a0001c0001t0001g0032others(4): Show | 7 | 298 | 0.0235 | 14 | c.330 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79376214 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01123.hp1 HG02132.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(8): Show | 11 | 298 | 0.0369 | 14 | c.330 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79376214 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | NA18945.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0075 | 2 | 298 | 0.0067 | 14 | c.330 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATPAF2_chr17_18013021_18044168 | 18019147 | C | CCACACAC others(7): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01993.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0119a0001c0001t0001g0134a0001c0001t0002g0219 | 3 | 328 | 0.0092 | 14 | c.733 others(29): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
ATRIP_chr3_48441737_48472645 | 48449413 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02896.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0017a0001c0003t0007g0083 | 4 | 360 | 0.0111 | 14 | c.248 others(29): Show |
ATRIP | ENSG00000164053.22 | transcript | ENST00000320211.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115214041 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01515.hp2 HG06807.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009 | a0001c0001t0002g0123a0001c0001t0008g0079a0001c0001t0009g0122 | 3 | 128 | 0.0234 | 14 | c.134 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115223913 | G | GTGTGTAT others(7): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02809.hp1 HG03486.hp1 others(1): Show |
a0002 | a0002c0004a0002c0008 | a0002c0004t0002a0002c0004t0006a0002c0008t0044 | a0002c0004t0002g0012a0002c0004t0002g0013a0002c0004t0006g0084others(1): Show | 4 | 128 | 0.0313 | 14 | c.153 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115223929 | A | ATATATTT others(7): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 128 | 0.0078 | 14 | c.153 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115230913 | G | GAGAGAGA others(7): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0031 | a0001c0003t0031g0016 | 1 | 128 | 0.0078 | 14 | c.153 others(35): 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(7): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03041.hp1 NA18957.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0001a0001c0003t0003a0002c0004t0006others(1): Show | a0001c0002t0001g0045a0001c0003t0003g0060a0002c0004t0006g0084others(1): Show | 4 | 128 | 0.0313 | 14 | c.317 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115389542 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0008 | a0002c0008t0011 | a0002c0008t0011g0073 | 1 | 128 | 0.0078 | 14 | c.317 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115389544 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 128 | 0.0078 | 14 | c.317 others(33): 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(7): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0015 | a0001c0015t0034 | a0001c0015t0034g0110 | 1 | 128 | 0.0078 | 14 | c.326 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115442270 | G | GCTCTCTC others(7): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0042 | a0001c0001t0017g0028a0001c0001t0042g0095 | 2 | 128 | 0.0156 | 14 | c.332 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115442303 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0053 | 1 | 128 | 0.0078 | 14 | c.332 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115442303 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0042 | 1 | 128 | 0.0078 | 14 | c.332 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115480207 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0006 | a0001c0006t0033 | a0001c0006t0033g0035 | 1 | 128 | 0.0078 | 14 | c.365 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115559414 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0028 | 1 | 128 | 0.0078 | 14 | c.379 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115561678 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02559.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0010a0001c0006t0009 | a0001c0001t0010g0018a0001c0006t0009g0038 | 2 | 128 | 0.0156 | 14 | c.379 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115561704 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03195.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0015a0001c0001t0043a0001c0005t0021 | a0001c0001t0015g0064a0001c0001t0043g0094a0001c0005t0021g0007 | 3 | 128 | 0.0234 | 14 | c.379 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115577610 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0059 | 1 | 128 | 0.0078 | 14 | c.379 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115621254 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 128 | 0.0078 | 14 | c.379 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115621276 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0031 | a0001c0003t0003g0060a0001c0003t0031g0016 | 2 | 128 | 0.0156 | 14 | c.379 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115621276 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0013a0001c0005t0021 | a0001c0001t0002g0015a0001c0001t0013g0019a0001c0005t0021g0007 | 3 | 128 | 0.0234 | 14 | c.379 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115646036 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01943.hp2 HG02055.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0098a0001c0001t0001g0120others(5): Show | 8 | 128 | 0.0625 | 14 | c.379 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115729527 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0008 | a0002c0008t0044 | a0002c0008t0044g0063 | 1 | 128 | 0.0078 | 14 | c.390 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115738126 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0030 | 1 | 128 | 0.0078 | 14 | c.390 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115738154 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02055.hp1 HG02970.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0088a0001c0001t0002g0017a0001c0001t0008g0079others(4): Show | 7 | 128 | 0.0547 | 14 | c.390 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115772593 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19070.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0037 | a0001c0001t0001g0070a0001c0003t0037g0121 | 2 | 128 | 0.0156 | 14 | c.390 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115772597 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02300.hp2 HG02976.hp1 |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0004a0001c0003t0014a0001c0005t0018 | a0001c0002t0004g0058a0001c0003t0014g0089a0001c0005t0018g0003 | 3 | 128 | 0.0234 | 14 | c.390 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115856428 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01123.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0014 | a0001c0001t0009a0001c0001t0011a0001c0002t0005others(1): Show | a0001c0001t0009g0122a0001c0001t0011g0112a0001c0002t0005g0046others(2): Show | 5 | 128 | 0.0391 | 14 | c.401 others(33): 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(7): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02055.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0022others(1): Show | a0001c0001t0001g0065a0001c0001t0010g0033a0001c0001t0010g0034others(4): Show | 7 | 128 | 0.0547 | 14 | c.401 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3492168 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0134 | 1 | 220 | 0.0046 | 14 | c.410 others(33): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3519006 | T | TATAAAAA others(7): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02055.hp1 others(1): Show |
a0001a0009 | a0001c0003a0001c0006a0009c0019others(1): Show | a0001c0003t0037a0001c0006t0004a0009c0019t0004others(1): Show | a0001c0003t0037g0194a0001c0006t0004g0177a0009c0019t0004g0210others(1): Show | 4 | 220 | 0.0182 | 14 | c.411 others(33): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3554990 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0212 | 1 | 220 | 0.0046 | 14 | c.111 others(33): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77585583 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02723.hp1 NA18967.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0002 | a0001c0001t0005g0073a0001c0001t0005g0074a0002c0002t0002g0032others(1): Show | 4 | 218 | 0.0184 | 14 | c.621 others(33): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00597.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0102a0001c0001t0002g0215 | 2 | 218 | 0.0092 | 14 | c.455 others(31): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | AAAATATA others(7): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02965.hp1 NA18986.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0003g0085a0001c0001t0005g0069a0002c0002t0001g0049others(1): Show | 4 | 218 | 0.0184 | 14 | c.380 others(33): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77716110 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 218 | 0.0046 | 14 | c.133 others(31): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar |