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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AVEN_chr15_33861227_34044204 | 33933520 | CACACAGA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0110 | 2 | 266 | 0.0075 | -10 | c.446 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33933524 | CAGAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01891.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0134others(1): Show | 4 | 266 | 0.0150 | -10 | c.446 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33983150 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 266 | 0.0038 | -10 | c.445 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 34008483 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01257.hp1 HG01952.hp1 others(7): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0001c0001t0002a0008c0009t0002 | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0114others(7): Show | 10 | 266 | 0.0376 | -10 | c.268 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 34014381 | AAAACAAA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0216 | 2 | 266 | 0.0075 | -10 | c.268 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 34029517 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01978.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212a0001c0001t0001g0226a0001c0001t0001g0230 | 3 | 266 | 0.0113 | -10 | c.267 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32503365 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03195.hp2 NA21309.hp2 |
a0001 | a0001c0008a0001c0009 | a0001c0008t0142a0001c0009t0037 | a0001c0008t0142g0310a0001c0009t0037g0312a0001c0009t0037g0313 | 3 | 330 | 0.0091 | -10 | c.93+ others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32503367 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038 | 1 | 330 | 0.0030 | -10 | c.93+ others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32540871 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0033a0001c0001t0035others(1): Show | a0001c0001t0017g0006a0001c0001t0017g0008a0001c0001t0033g0257others(2): Show | 5 | 330 | 0.0152 | -10 | c.94- others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32579495 | ATATTATA others(3): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01884.hp2 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0023a0003c0005t0062a0003c0005t0065others(1): Show | a0003c0005t0023g0143a0003c0005t0023g0321a0003c0005t0062g0322others(2): Show | 5 | 330 | 0.0152 | -10 | c.168 others(27): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32579526 | ATATATTA others(3): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0112 | 1 | 330 | 0.0030 | -10 | c.168 others(27): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32579559 | ATATTATA others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01261.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0006a0001c0002t0011others(7): Show | a0001c0002t0005g0064a0001c0002t0005g0094a0001c0002t0005g0096others(15): Show | 18 | 330 | 0.0546 | -10 | c.168 others(27): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32582267 | CTGAAAGA others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03098.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0135a0001c0001t0136a0001c0001t0137others(2): Show | a0001c0001t0135g0297a0001c0001t0136g0299a0001c0001t0137g0301others(2): Show | 5 | 330 | 0.0152 | -10 | c.183 others(29): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG03139.hp1 NA19002.hp2 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0002a0004c0005t0001 | a0001c0001t0001g0272a0002c0002t0002g0105a0004c0005t0001g0255 | 3 | 446 | 0.0067 | -10 | c.287 others(25): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97691684 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0297 | 1 | 446 | 0.0022 | -10 | c.-49 others(21): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 4444 | chr10 | TogoVar | ||||||
AVPR1B_chr1_206101936_206122388 | 206122048 | TTGTGTGT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01884.hp2 HG02647.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0001a0001c0001t0074a0001c0003t0027others(1): Show | a0001c0001t0001g0001a0001c0001t0074g0065a0001c0003t0027g0032others(1): Show | 4 | 396 | 0.0101 | -10 | c.-51 others(21): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 4661 | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179369269 | AGTTTCGC others(3): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01109.hp2 others(2): Show |
a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0168a0008c0012t0001g0169a0008c0012t0001g0170others(2): Show | 5 | 356 | 0.0140 | -10 | c.270 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179399474 | TCTAGACA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(88): Show |
a0001a0002a0011others(3): Show | a0001c0002a0001c0006a0001c0007others(9): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(9): Show | a0001c0002t0001g0081a0001c0002t0001g0082a0001c0002t0001g0083others(88): Show | 91 | 356 | 0.2556 | -10 | c.110 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179449988 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(167): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0006a0001c0021others(12): Show | a0001c0002t0001a0001c0006t0001a0001c0021t0001others(12): Show | a0001c0002t0001g0081a0001c0002t0001g0082a0001c0002t0001g0083others(167): Show | 170 | 356 | 0.4775 | -10 | c.179 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179459668 | TTTCTTTT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(103): Show |
a0001a0002a0007others(6): Show | a0001c0002a0001c0007a0001c0011others(9): Show | a0001c0002t0001a0001c0007t0001a0001c0011t0001others(9): Show | a0001c0002t0001g0081a0001c0002t0001g0082a0001c0002t0001g0083others(103): Show | 106 | 356 | 0.2978 | -10 | c.179 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179460008 | CTCTCCTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(93): Show |
a0001a0002a0012others(3): Show | a0001c0002a0001c0007a0001c0011others(6): Show | a0001c0002t0001a0001c0007t0001a0001c0011t0001others(6): Show | a0001c0002t0001g0081a0001c0002t0001g0082a0001c0002t0001g0083others(93): Show | 96 | 356 | 0.2697 | -10 | c.179 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179466276 | CTTCTTCT others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG03209.hp1 |
a0003a0009 | a0003c0004a0009c0013 | a0003c0004t0001a0009c0013t0001 | a0003c0004t0001g0184a0009c0013t0001g0097a0009c0013t0001g0098 | 3 | 356 | 0.0084 | -10 | c.179 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179482098 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01433.hp2 others(18): Show |
a0001a0002a0004others(1): Show | a0001c0007a0002c0001a0004c0005others(1): Show | a0001c0007t0001a0002c0001t0001a0004c0005t0001others(1): Show | a0001c0007t0001g0183a0001c0007t0001g0187a0001c0007t0001g0189others(18): Show | 21 | 356 | 0.0590 | -10 | c.199 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXIN1_chr16_282440_357723 | 336816 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 378 | 0.0027 | -10 | c.878 others(27): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 349104 | AAAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0182 | 1 | 378 | 0.0027 | -10 | c.-81 others(27): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65538667 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 402 | 0.0025 | -10 | c.106 others(27): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65561694 | GCCCGCCC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0030 | 1 | 402 | 0.0025 | -10 | c.-37 others(19): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 47 | chr17 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65564088 | TCACACAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0238 | 1 | 402 | 0.0025 | -10 | c.-27 others(21): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2441 | chr17 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41223164 | GGGCATCT others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp2 HG03195.hp2 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0042a0001c0001t0043a0007c0009t0033 | a0001c0001t0042g0015a0001c0001t0043g0015a0007c0009t0033g0278 | 3 | 314 | 0.0096 | -10 | c.586 others(27): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AXL_chr19_41214223_41266766 | 41247895 | TTTTTATT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(68): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0016a0001c0001t0001g0083a0001c0001t0001g0129others(61): Show | 71 | 314 | 0.2261 | -10 | c.153 others(27): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AXL_chr19_41214223_41266766 | 41260298 | CTTTTTTT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02155.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0050 | a0001c0001t0039g0008a0001c0001t0050g0257 | 2 | 314 | 0.0064 | -10 | c.*41 others(19): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 416 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AZI2_chr3_28316047_28353824 | 28342711 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0024others(25): Show | 73 | 360 | 0.2028 | -10 | c.-5- others(25): Show |
AZI2 | ENSG00000163512.14 | transcript | ENST00000479665.6 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
AZIN1_chr8_102821308_102869163 | 102822170 | TCACACAC others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0182 | 1 | 380 | 0.0026 | -10 | c.*63 others(21): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 4137 | chr8 | TogoVar | ||||||
AZIN2_chr1_33076153_33128492 | 33102460 | GAAAGTCA others(3): Show |
G | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 322 | 0.0031 | -10 | c.102 others(29): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
AZIN2_chr1_33076153_33128492 | 33125733 | CCCTTTCC others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0145 | 1 | 322 | 0.0031 | -10 | c.*55 others(21): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 2242 | chr1 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833302 | GAAGAAGA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0014 | 1 | 391 | 0.0026 | -10 | c.*14 others(21): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1285 | chr19 | TogoVar | ||||||
B2M_chr15_44706517_44723145 | 44721362 | GACACACA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(4): Show | 31 | 385 | 0.0805 | -10 | c.*37 others(21): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 3218 | chr15 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235474950 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG02895.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0186a0001c0001t0011g0212a0001c0001t0011g0214others(2): Show | 5 | 344 | 0.0145 | -10 | c.652 others(27): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235480905 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG00738.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0129a0001c0001t0002g0039a0001c0001t0002g0040others(32): Show | 35 | 344 | 0.1017 | -10 | c.556 others(25): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235498843 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp1 others(59): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0005a0001c0001t0035a0001c0001t0057others(14): Show | a0001c0001t0005g0221a0001c0001t0005g0222a0001c0001t0035g0093others(58): Show | 62 | 344 | 0.1802 | -10 | c.113 others(27): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167303644 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01169.hp2 HG01346.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0045a0001c0001t0047others(2): Show | a0001c0001t0019g0020a0001c0001t0045g0045a0001c0001t0047g0019others(2): Show | 5 | 118 | 0.0424 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167325702 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00673.hp2 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0046a0001c0001t0001g0062others(61): Show | 64 | 118 | 0.5424 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167346767 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0060 | 1 | 118 | 0.0085 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167351955 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00738.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0046a0001c0001t0001g0062a0001c0001t0001g0068others(39): Show | 42 | 118 | 0.3559 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167352270 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0025 | 1 | 118 | 0.0085 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167365585 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 118 | 0.0085 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167369061 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(1): Show | a0001c0001t0002g0094a0001c0001t0010g0092a0001c0001t0018g0093others(1): Show | 4 | 118 | 0.0339 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167408015 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0097others(6): Show | 9 | 118 | 0.0763 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167408063 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0060 | 1 | 118 | 0.0085 | -10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167512558 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03139.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0034others(1): Show | a0001c0001t0005g0051a0001c0001t0005g0101a0001c0001t0010g0092others(2): Show | 5 | 118 | 0.0424 | -10 | c.-41 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |