view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD2_chr15_89083456_89207355 | 89205128 | TTCTCTCT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02970.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0041 | a0001c0001t0001g0195 a0001c0001t0018g0037 a0001c0001t0041g0011 |
3 | 50 | 0.0600 | -8 | c.*97 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | |||||||
ABHD4_chr14_22593300_22617963 | 22600829 | GGGGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00738.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0058 others(11): Show |
37 | 225 | 0.1644 | -8 | c.24- others(21): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58264387 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00735.hp2 others(44): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0227 a0001c0001t0001g0236 a0001c0001t0002g0004 others(43): Show |
47 | 100 | 0.4700 | -8 | c.120 others(25): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58264440 | CACACATA others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0154 a0001c0001t0005g0216 a0001c0001t0005g0228 |
3 | 300 | 0.0100 | -8 | c.120 others(25): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761617 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG01346.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 others(19): Show |
22 | 194 | 0.1134 | -8 | c.821 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761655 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG03834.hp2 NA18962.hp1 NA19068.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0001 a0001c0001t0003g0308 a0001c0001t0003g0315 others(1): Show |
4 | 356 | 0.0112 | -8 | c.821 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26816986 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(37): Show |
40 | 54 | 0.7407 | -8 | c.285 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26818158 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02976.hp1 HG04199.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0245 a0001c0001t0003g0344 a0001c0001t0005g0321 others(5): Show |
8 | 38 | 0.2105 | -8 | c.285 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26820993 | AGCACTTC others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(69): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(69): Show |
72 | 356 | 0.2022 | -8 | c.285 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26834548 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0104 a0001c0001t0001g0105 others(33): Show |
36 | 97 | 0.3711 | -8 | c.118 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26835615 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(122): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 others(121): Show |
125 | 354 | 0.3531 | -8 | c.118 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203338955 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01256.hp2 HG01884.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0002g0008 a0001c0001t0002g0021 a0001c0001t0002g0025 others(9): Show |
12 | 314 | 0.0382 | -8 | c.117 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203342552 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02155.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0014 a0001c0001t0002g0056 a0001c0001t0003g0210 others(3): Show |
6 | 145 | 0.0414 | -8 | c.117 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203357759 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(183): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 others(183): Show |
186 | 315 | 0.5905 | -8 | c.118 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203370186 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG00741.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0202 a0001c0001t0001g0218 a0001c0001t0001g0297 others(24): Show |
27 | 110 | 0.2455 | -8 | c.285 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100830106 | CATACATA others(1): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG02922.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0002a0002c0008others(2): Show | a0001c0005t0001a0002c0002t0007a0002c0008t0019others(2): Show | a0001c0005t0001g0147 a0002c0002t0007g0155 a0002c0008t0019g0144 others(2): Show |
5 | 177 | 0.0282 | -8 | c.245 others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 32/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100830110 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02071.hp1 NA18906.hp2 NA18947.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0002c0002others(3): Show | a0001c0001t0006a0001c0017t0007a0002c0002t0003others(4): Show | a0001c0001t0006g0203 a0001c0017t0007g0016 a0002c0002t0003g0070 others(5): Show |
8 | 94 | 0.0851 | -8 | c.245 others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 32/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100841194 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(34): Show |
a0002a0007a0017 | a0002c0002a0002c0006a0002c0008others(5): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0005others(17): Show | a0002c0002t0002g0053 a0002c0002t0002g0061 a0002c0002t0002g0087 others(34): Show |
37 | 91 | 0.4066 | -8 | c.176 others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 21/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100843542 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02615.hp2 others(3): Show |
a0006 | a0006c0011a0006c0042 | a0006c0011t0007a0006c0011t0012a0006c0011t0022others(2): Show | a0006c0011t0007g0157 a0006c0011t0012g0139 a0006c0011t0022g0171 others(3): Show |
6 | 113 | 0.0531 | -8 | c.172 others(27): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 20/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100918282 | GTCCACCC others(1): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01071.hp1 HG01081.hp2 others(7): Show |
a0001a0003a0004others(2): Show | a0001c0013a0001c0048a0003c0050others(3): Show | a0001c0013t0002a0001c0013t0005a0001c0048t0001others(4): Show | a0001c0013t0002g0116 a0001c0013t0002g0122 a0001c0013t0005g0114 others(7): Show |
10 | 236 | 0.0424 | -8 | c.259 others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 2/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100940786 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | NA18941.hp2 NA18970.hp2 NA18993.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0017a0002c0010others(2): Show | a0001c0001t0018a0001c0017t0007a0002c0010t0002others(2): Show | a0001c0001t0018g0082 a0001c0017t0007g0016 a0002c0010t0002g0066 others(2): Show |
5 | 207 | 0.0242 | -8 | c.80- others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100956214 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG02055.hp1 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0008others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0001g0137 a0001c0001t0004g0177 a0001c0001t0007g0166 others(9): Show |
12 | 64 | 0.1875 | -8 | c.80- others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100956254 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01346.hp2 HG02004.hp1 |
a0001a0004 | a0001c0022a0004c0015 | a0001c0022t0001a0004c0015t0001 | a0001c0022t0001g0125 a0004c0015t0001g0123 a0004c0015t0001g0126 |
3 | 236 | 0.0127 | -8 | c.80- others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | |||||||
ABL2_chr1_179094330_179234677 | 179136709 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01099.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0009a0001c0001t0024a0002c0005t0017 | a0001c0001t0009g0157 a0001c0001t0009g0187 a0001c0001t0009g0188 others(11): Show |
14 | 97 | 0.1443 | -8 | c.158 others(25): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ABL2_chr1_179094330_179234677 | 179156882 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(103): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 others(103): Show |
106 | 135 | 0.7852 | -8 | c.158 others(27): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ABL2_chr1_179094330_179234677 | 179214519 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG01081.hp2 others(22): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0001c0001t0005a0001c0001t0022others(3): Show | a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 others(22): Show |
25 | 51 | 0.4902 | -8 | c.157 others(27): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114434280 | AACACACA others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG01123.hp2 HG01255.hp1 others(25): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0064a0001c0001t0082a0001c0001t0100others(13): Show | a0001c0001t0064g0037 a0001c0001t0082g0181 a0001c0001t0100g0245 others(25): Show |
28 | 40 | 0.7000 | -8 | c.*19 others(19): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 23/23 | 1972 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114460323 | GGGCGCGG others(1): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02451.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008others(1): Show | a0001c0001t0156a0001c0001t0157a0001c0002t0012others(3): Show | a0001c0001t0156g0110 a0001c0001t0157g0115 a0001c0002t0012g0246 others(4): Show |
7 | 254 | 0.0276 | -8 | c.144 others(27): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 12/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114512847 | GGAAGGAA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00733.hp1 others(37): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0004a0001c0001t0010a0001c0001t0016others(32): Show | a0001c0001t0004g0100 a0001c0001t0004g0178 a0001c0001t0010g0185 others(37): Show |
40 | 237 | 0.1688 | -8 | c.895 others(27): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114536227 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01433.hp1 HG01978.hp2 others(7): Show |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0003g0083 a0001c0001t0004g0136 a0001c0001t0007g0080 others(7): Show |
10 | 41 | 0.2439 | -8 | c.894 others(25): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114583404 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02630.hp2 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0047a0001c0001t0087a0001c0001t0116others(2): Show | a0001c0001t0047g0162 a0001c0001t0087g0019 a0001c0001t0116g0114 others(2): Show |
5 | 225 | 0.0222 | -8 | c.380 others(25): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114601049 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01952.hp1 HG01993.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0093a0001c0002t0003a0001c0002t0008others(12): Show | a0001c0001t0093g0146 a0001c0002t0003g0151 a0001c0002t0008g0131 others(12): Show |
15 | 17 | 0.8824 | -8 | c.379 others(23): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114638622 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02071.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0001t0028a0001c0001t0105others(5): Show | a0001c0001t0007g0080 a0001c0001t0028g0247 a0001c0001t0105g0145 others(5): Show |
8 | 28 | 0.2857 | -8 | c.244 others(27): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114649400 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(129): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(101): Show | a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0244 others(129): Show |
132 | 179 | 0.7374 | -8 | c.244 others(25): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 7969730 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00642.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0030others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(40): Show |
43 | 49 | 0.8776 | -8 | c.182 others(27): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8066360 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0058 others(41): Show |
44 | 99 | 0.4444 | -8 | c.676 others(25): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 6/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8145745 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01099.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0027others(1): Show | a0001c0001t0001g0165 a0001c0001t0002g0051 a0001c0001t0002g0312 others(4): Show |
7 | 62 | 0.1129 | -8 | c.10+ others(25): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
ABLIM3_chr5_149136493_149265542 | 149171922 | CTATTCTA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(133): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0035 others(131): Show |
136 | 256 | 0.5313 | -8 | c.14- others(25): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149179296 | CTGTTTGT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(131): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0028 others(129): Show |
134 | 249 | 0.5382 | -8 | c.14- others(23): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149225915 | TCATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(109): Show |
a0001 | a0001c0001a0001c0006a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0044 others(107): Show |
112 | 256 | 0.4375 | -8 | c.758 others(25): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149225982 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 HG01516.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0035 others(6): Show |
9 | 166 | 0.0542 | -8 | c.758 others(25): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABLIM3_chr5_149136493_149265542 | 149248859 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02615.hp2 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0018 a0001c0001t0002g0072 a0001c0001t0004g0073 others(11): Show |
14 | 54 | 0.2593 | -8 | c.170 others(25): Show |
ABLIM3 | ENSG00000173210.21 | transcript | ENST00000309868.12 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ABRA_chr8_106754483_106775244 | 106764652 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01516.hp2 HG01517.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0028 others(3): Show |
17 | 436 | 0.0390 | -8 | c.669 others(25): Show |
ABRA | ENSG00000174429.4 | transcript | ENST00000311955.4 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 999323 | CTATATAT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02895.hp1 NA19090.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0013a0001c0003t0012 | a0001c0001t0001g0123 a0001c0001t0013g0027 a0001c0003t0012g0118 |
3 | 71 | 0.0423 | -8 | c.*67 others(19): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 4195 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1018087 | GGCTGGAG others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01106.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0062 a0001c0001t0001g0132 a0001c0001t0001g0134 others(18): Show |
21 | 336 | 0.0625 | -8 | c.179 others(27): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1031526 | CCCCCGCA others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01081.hp1 others(13): Show |
a0001a0004a0005 | a0001c0001a0004c0011a0005c0015 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0094 a0001c0001t0002g0103 a0001c0001t0002g0125 others(13): Show |
16 | 336 | 0.0476 | -8 | c.179 others(29): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1037013 | ATCCTTCC others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0002t0007a0001c0002t0042others(5): Show | a0001c0001t0008g0006 a0001c0002t0007g0295 a0001c0002t0042g0015 others(5): Show |
8 | 336 | 0.0238 | -8 | c.179 others(29): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1057308 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01346.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0002g0065 |
3 | 250 | 0.0120 | -8 | c.138 others(25): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 12/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1057643 | CTGTGTAT others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG01192.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0003g0223 a0001c0001t0004g0335 a0001c0001t0004g0336 others(15): Show |
18 | 336 | 0.0536 | -8 | c.138 others(25): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 12/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1079788 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG02074.hp2 HG02300.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0046others(3): Show | a0001c0001t0004g0301 a0001c0001t0006g0093 a0001c0001t0006g0161 others(5): Show |
8 | 14 | 0.5714 | -8 | c.640 others(23): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 5/22 | chr17 | TogoVar |