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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD12B_chr14_50867053_50909970 | 50870908 | CAAGAAAG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0205 | 1 | 376 | 0.0027 | -12 | c.-12 others(23): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1144 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870975 | GAAAGAAA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02602.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0110 | 1 | 376 | 0.0027 | -12 | c.-11 others(23): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1077 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870979 | GAAAGAGA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02615.hp2 NA18906.hp2 |
a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0019 | 2 | 376 | 0.0053 | -12 | c.-11 others(23): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1073 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50881938 | TGTCGTTG others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01167.hp2 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0162a0001c0001t0001g0296a0001c0001t0003g0191others(20): Show | 25 | 376 | 0.0665 | -12 | c.486 others(27): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50901763 | AAGACTAT others(5): Show |
A | intron_variant | MODIFIER | HG02738.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138a0001c0001t0001g0145 | 2 | 376 | 0.0053 | -12 | c.781 others(25): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12_chr20_25295214_25395835 | 25360227 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0193 | 1 | 316 | 0.0032 | -12 | c.192 others(31): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00609.hp1 HG02004.hp1 HG02015.hp2 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(1): Show | 11 | 344 | 0.0320 | -12 | c.*87 others(21): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31682781 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 417 | 0.0024 | -12 | c.*44 others(23): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4173 | chr6 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1873485 | TGGCTGGT others(5): Show |
T | downstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 416 | 0.0024 | -12 | c.*37 others(23): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 3324 | chr19 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71896681 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 186 | 0.0054 | -12 | c.-4+ others(29): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713900 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 360 | 0.0028 | -12 | c.590 others(31): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80725812 | TTTTGTTT others(5): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01496.hp1 HG02145.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011 | a0001c0001t0001g0065a0001c0001t0001g0127a0001c0001t0001g0184others(16): Show | 20 | 360 | 0.0556 | -12 | c.591 others(31): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127966702 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03927.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0048 | a0001c0001t0002g0257a0003c0003t0048g0256 | 2 | 344 | 0.0058 | -12 | c.-18 others(29): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127971482 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0003 | a0003c0003t0048 | a0003c0003t0048g0256 | 1 | 344 | 0.0029 | -12 | c.-18 others(29): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128029363 | CACAAACA others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02622.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0034a0003c0003t0059a0003c0003t0060 | a0003c0003t0034g0134a0003c0003t0034g0136a0003c0003t0059g0135others(1): Show | 4 | 344 | 0.0116 | -12 | c.118 others(29): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128039144 | CATATATA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0001c0001t0025a0001c0001t0046others(9): Show | a0001c0001t0013g0215a0001c0001t0013g0236a0001c0001t0013g0237others(24): Show | 27 | 344 | 0.0785 | -12 | c.*33 others(23): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3361 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
ABHD1_chr2_27118815_27135812 | 27121387 | TTTTTTTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02451.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0009 | 4 | 400 | 0.0100 | -12 | c.-25 others(23): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 2427 | chr2 | TogoVar | ||||||
ABHD1_chr2_27118815_27135812 | 27127236 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 | 1 | 400 | 0.0025 | -12 | c.115 others(29): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89115370 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01099.hp1 HG01433.hp1 others(34): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0087others(34): Show | 37 | 234 | 0.1581 | -12 | c.-6- others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89127710 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0022a0001c0001t0009g0025 | 2 | 234 | 0.0086 | -12 | c.194 others(31): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89170080 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0003a0001c0001t0004g0093a0001c0001t0008g0011others(4): Show | 7 | 234 | 0.0299 | -12 | c.539 others(29): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183380 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 234 | 0.0043 | -12 | c.723 others(29): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183382 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01169.hp2 HG02027.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0028 | a0001c0001t0003g0026a0001c0001t0003g0121a0001c0001t0003g0124others(4): Show | 7 | 234 | 0.0299 | -12 | c.723 others(29): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183384 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02738.hp2 HG03704.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0027 | a0001c0001t0003g0048a0001c0001t0003g0049a0001c0001t0003g0056others(4): Show | 7 | 234 | 0.0299 | -12 | c.723 others(29): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89205128 | TTCTCTCT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03486.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033 | a0001c0001t0002g0094a0001c0001t0033g0164 | 2 | 234 | 0.0086 | -12 | c.*97 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21673601 | GTTTTGTT others(5): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01081.hp2 others(16): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0041a0001c0001t0001g0095a0001c0001t0001g0096others(16): Show | 19 | 304 | 0.0625 | -12 | c.556 others(29): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21677674 | GTTATTTA others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00735.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0040a0001c0001t0001g0107others(30): Show | 34 | 304 | 0.1118 | -12 | c.555 others(29): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21679558 | TCGCTCTG others(5): Show |
T | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0264 | 1 | 304 | 0.0033 | -12 | c.555 others(29): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21700827 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01884.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0038others(15): Show | 18 | 304 | 0.0592 | -12 | c.509 others(29): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22600829 | GGGGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 424 | 0.0024 | -12 | c.24- others(25): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58254851 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0051 | 1 | 302 | 0.0033 | -12 | c.-25 others(29): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58256098 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 302 | 0.0033 | -12 | c.-25 others(27): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58264387 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01099.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0079a0001c0001t0001g0135a0001c0001t0001g0157others(20): Show | 23 | 302 | 0.0762 | -12 | c.120 others(29): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58264436 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01934.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0283a0001c0001t0005g0226 | 2 | 302 | 0.0066 | -12 | c.120 others(29): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286842 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG03453.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0249a0001c0001t0008g0254 | 2 | 302 | 0.0066 | -12 | c.837 others(29): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD8_chr19_17287131_17308425 | 17289411 | AAATAATA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0280 | 2 | 386 | 0.0052 | -12 | c.*32 others(23): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2719 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761617 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01255.hp1 HG01891.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016 | a0001c0001t0001g0051a0001c0001t0003g0165a0001c0001t0003g0281others(2): Show | 5 | 358 | 0.0140 | -12 | c.821 others(29): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26818158 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02109.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0347a0001c0001t0006g0348a0001c0001t0006g0350others(4): Show | 7 | 358 | 0.0196 | -12 | c.285 others(29): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26834548 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0352 | 1 | 358 | 0.0028 | -12 | c.118 others(31): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26843475 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 358 | 0.0028 | -12 | c.117 others(31): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26843477 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0036a0001c0001t0001g0040others(6): Show | 9 | 358 | 0.0251 | -12 | c.117 others(31): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26843479 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00735.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0034a0001c0001t0001g0037others(8): Show | 11 | 358 | 0.0307 | -12 | c.117 others(31): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26843481 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 358 | 0.0028 | -12 | c.117 others(31): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26843483 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 358 | 0.0028 | -12 | c.117 others(31): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26857320 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02004.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144a0001c0001t0002g0355 | 2 | 358 | 0.0056 | -12 | c.117 others(29): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26858537 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02015.hp1 HG02135.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0312a0001c0001t0003g0011a0001c0001t0003g0286others(28): Show | 31 | 358 | 0.0866 | -12 | c.117 others(29): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203338951 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01975.hp2 HG02109.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0006a0001c0001t0002g0016a0001c0001t0002g0017others(20): Show | 23 | 320 | 0.0719 | -12 | c.117 others(31): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203342552 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0037 | a0001c0001t0003g0317a0001c0001t0037g0320 | 2 | 320 | 0.0063 | -12 | c.117 others(31): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203358107 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 320 | 0.0031 | -12 | c.118 others(29): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203365622 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0153a0001c0001t0011g0154a0001c0001t0011g0155 | 3 | 320 | 0.0094 | -12 | c.118 others(29): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |