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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD12B_chr14_50867053_50909970 | 50871026 | A | AAAGAAAG others(13): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 HG02300.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0004 | a0001c0001t0001g0339 a0001c0005t0004g0333 |
2 | 198 | 0.0101 | 20 | c.-11 others(31): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1026 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25313578 | A | AAAAATAA others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02809.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 others(1): Show |
4 | 54 | 0.0741 | 20 | c.619 others(37): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0228 | 1 | 93 | 0.0108 | 20 | c.422 others(35): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0248 | 1 | 93 | 0.0108 | 20 | c.422 others(35): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02738.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0002 | a0001c0001t0009g0290 a0001c0002t0002g0165 |
2 | 94 | 0.0213 | 20 | c.422 others(35): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD16B_chr20_63856498_63867988 | 63866088 | A | ATTTCTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 1 | 384 | 0.0026 | 20 | c.*31 others(31): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 3101 | chr20 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01109.hp2 HG01175.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 others(15): Show |
18 | 45 | 0.4000 | 20 | c.590 others(37): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80705362 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02970.hp1 NA18939.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0321 a0001c0001t0005g0017 a0001c0001t0007g0179 |
4 | 342 | 0.0117 | 20 | c.590 others(37): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80723138 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 2 | 185 | 0.0108 | 20 | c.591 others(39): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128033524 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG03225.hp2 |
a0003 | a0003c0003 | a0003c0003t0034a0003c0003t0060 | a0003c0003t0034g0134 a0003c0003t0034g0136 a0003c0003t0060g0118 |
3 | 174 | 0.0172 | 20 | c.134 others(39): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89127706 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 197 | 0.0051 | 20 | c.194 others(39): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205128 | T | TTCTCTCT others(13): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 48 | 0.0208 | 20 | c.*97 others(31): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89205179 | T | TCTCTCTC others(13): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 229 | 0.0044 | 20 | c.*97 others(31): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2825 | chr15 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21704716 | C | CGAGCGGG others(13): Show |
5_prime_UTR_variant | MODIFIER | HG01891.hp1 HG01934.hp1 HG02015.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0003g0254 others(20): Show |
23 | 172 | 0.1337 | 20 | c.-71 others(27): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 1/9 | 52 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21708807 | G | GGCAACAG others(13): Show |
upstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 302 | 0.0033 | 20 | c.-41 others(31): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4034 | chr18 | TogoVar | |||||||
ABHD5_chr3_43685938_43727725 | 43715083 | C | CCCTGTGT others(13): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0034 | 1 | 284 | 0.0035 | 20 | c.773 others(33): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 5/6 | chr3 | TogoVar | |||||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GCATATAT others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02809.hp2 HG02965.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0065 a0001c0001t0001g0162 others(7): Show |
10 | 93 | 0.1075 | 20 | c.837 others(37): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | chr3 | TogoVar | |||||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 84 | 0.0119 | 20 | c.837 others(37): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286850 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01358.hp1 HG01934.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0022 a0001c0001t0003g0009 a0001c0001t0003g0010 others(6): Show |
11 | 49 | 0.2245 | 20 | c.837 others(37): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286852 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 34 | 0.0294 | 20 | c.837 others(37): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 219 | 0.0046 | 20 | c.821 others(37): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 219 | 0.0046 | 20 | c.821 others(37): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26773215 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0071 a0001c0001t0001g0239 a0001c0001t0006g0348 others(2): Show |
5 | 123 | 0.0407 | 20 | c.463 others(37): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203370186 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0156 | 1 | 84 | 0.0119 | 20 | c.285 others(37): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203385139 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG00733.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0186 a0001c0001t0001g0202 a0001c0001t0001g0212 others(26): Show |
29 | 157 | 0.1847 | 20 | c.480 others(37): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203395448 | T | TATATACA others(13): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0190 | 1 | 80 | 0.0125 | 20 | c.726 others(35): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203434040 | A | ATATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0135 a0001c0001t0004g0146 |
2 | 272 | 0.0074 | 20 | c.*66 others(31): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1872 | chr2 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203434040 | A | ATATCTAT others(13): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0124 a0001c0001t0004g0125 |
2 | 272 | 0.0074 | 20 | c.*66 others(31): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1872 | chr2 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100820455 | A | ATTATAAT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(18): Show |
a0004a0007a0011others(2): Show | a0004c0007a0004c0015a0004c0049others(5): Show | a0004c0007t0001a0004c0007t0004a0004c0007t0038others(9): Show | a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0093 others(18): Show |
21 | 236 | 0.0890 | 20 | c.294 others(37): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 39/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100869330 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02055.hp1 HG02970.hp1 others(2): Show |
a0004a0005a0006others(1): Show | a0004c0015a0005c0016a0006c0011others(1): Show | a0004c0015t0001a0005c0016t0013a0006c0011t0026others(1): Show | a0004c0015t0001g0037 a0005c0016t0013g0013 a0005c0016t0013g0152 others(2): Show |
5 | 25 | 0.2000 | 20 | c.911 others(37): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 9/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100883604 | C | CAATAAGA others(13): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0206 | 1 | 236 | 0.0042 | 20 | c.696 others(37): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 6/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100894938 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01258.hp2 HG01993.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0002a0001c0009t0001a0002c0002t0002others(4): Show | a0001c0001t0002g0071 a0001c0009t0001g0086 a0001c0009t0001g0124 others(6): Show |
9 | 56 | 0.1607 | 20 | c.461 others(37): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100894965 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0022 | 1 | 216 | 0.0046 | 20 | c.461 others(37): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100940829 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0017a0001c0035others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(13): Show | a0001c0001t0002g0164 a0001c0001t0003g0085 a0001c0001t0014g0188 others(17): Show |
20 | 23 | 0.8696 | 20 | c.80- others(37): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 1/67 | chr3 | TogoVar | |||||||
ABL2_chr1_179094330_179234677 | 179178401 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 150 | 0.0067 | 20 | c.158 others(39): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ABL2_chr1_179094330_179234677 | 179232673 | A | AAAATAAA others(13): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0009 | a0009c0015 | a0009c0015t0055 | a0009c0015t0055g0313 | 1 | 145 | 0.0069 | 20 | c.-32 others(31): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 2997 | chr1 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114491012 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03225.hp2 |
a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0133 a0001c0002t0020g0154 |
2 | 9 | 0.2222 | 20 | c.982 others(35): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 7/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114491012 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0005 a0001c0001t0023g0007 |
2 | 9 | 0.2222 | 20 | c.982 others(35): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 7/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114491012 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0005 | a0002c0005t0091 | a0002c0005t0091g0111 | 1 | 8 | 0.1250 | 20 | c.982 others(35): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 7/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114491012 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0155 | a0001c0002t0155g0159 | 1 | 8 | 0.1250 | 20 | c.982 others(35): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 7/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114500731 | A | AGGAAGGG others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00735.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0001t0024a0001c0001t0028others(7): Show | a0001c0001t0005g0036 a0001c0001t0024g0182 a0001c0001t0028g0088 others(9): Show |
12 | 104 | 0.1154 | 20 | c.895 others(37): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114558902 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03540.hp2 HG03710.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0005a0001c0001t0010a0001c0001t0028others(4): Show | a0001c0001t0005g0036 a0001c0001t0010g0185 a0001c0001t0028g0088 others(4): Show |
7 | 128 | 0.0547 | 20 | c.674 others(39): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 4/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114583468 | C | CACATATA others(13): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0003 | a0001c0003t0136 | a0001c0003t0136g0045 | 1 | 133 | 0.0075 | 20 | c.380 others(37): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114583468 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0228 | 1 | 133 | 0.0075 | 20 | c.380 others(37): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114584135 | A | AAAAAGAA others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0026a0002c0005t0091 | a0001c0001t0026g0130 a0002c0005t0091g0111 |
2 | 206 | 0.0097 | 20 | c.380 others(37): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114634129 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp2 NA18964.hp1 |
a0001a0003 | a0001c0002a0001c0007a0003c0023 | a0001c0002t0066a0001c0007t0019a0003c0023t0012 | a0001c0002t0066g0169 a0001c0007t0019g0132 a0003c0023t0012g0134 |
3 | 60 | 0.0500 | 20 | c.244 others(39): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114641878 | G | GTTGTTTT others(13): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02965.hp2 |
a0001 | a0001c0002a0001c0022 | a0001c0002t0110a0001c0022t0160 | a0001c0002t0110g0157 a0001c0022t0160g0152 |
2 | 245 | 0.0082 | 20 | c.244 others(39): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 7969730 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG01123.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(4): Show | a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0056 others(16): Show |
19 | 25 | 0.7600 | 20 | c.182 others(39): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 7973075 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03710.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0002 | a0001c0001t0004g0150 a0001c0003t0002g0060 |
2 | 118 | 0.0169 | 20 | c.182 others(39): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 7977790 | C | CAATAAAT others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(73): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0032 others(73): Show |
76 | 184 | 0.4130 | 20 | c.182 others(39): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar |