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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD17C_chr15_80690310_80760621 | 80713382 | T | TTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 360 | 0.0028 | 10 | c.590 others(29): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713900 | C | CCACACAC others(3): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02970.hp1 NA18997.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0119a0001c0001t0001g0158a0001c0001t0001g0182others(5): Show | 8 | 360 | 0.0222 | 10 | c.590 others(29): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80723138 | A | ATATGTGT others(3): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 360 | 0.0028 | 10 | c.591 others(29): 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(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG02056.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0119a0001c0001t0001g0179a0001c0001t0001g0199others(12): Show | 15 | 360 | 0.0417 | 10 | c.591 others(29): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89127706 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03130.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0091a0001c0001t0001g0148a0001c0001t0002g0219others(2): Show | 5 | 234 | 0.0214 | 10 | c.194 others(29): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89127722 | C | CACACATA others(3): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0105 | 1 | 234 | 0.0043 | 10 | c.194 others(29): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89146355 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02735.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0021a0001c0001t0042a0001c0007t0007 | a0001c0001t0021g0167a0001c0001t0042g0057a0001c0007t0007g0225 | 3 | 234 | 0.0128 | 10 | c.195 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183368 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0035 | 1 | 234 | 0.0043 | 10 | c.723 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183382 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0022a0001c0008t0001 | a0001c0001t0001g0103a0001c0001t0001g0160a0001c0001t0001g0174others(2): Show | 5 | 234 | 0.0214 | 10 | c.723 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA18961.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0131a0001c0001t0005g0125 | 2 | 234 | 0.0086 | 10 | c.723 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | AAAAAATA others(3): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01256.hp2 HG03688.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054a0001c0001t0002g0071a0001c0001t0002g0107others(3): Show | 6 | 234 | 0.0256 | 10 | c.723 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | AAAATATA others(3): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 234 | 0.0043 | 10 | c.723 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095a0001c0001t0001g0100 | 2 | 234 | 0.0086 | 10 | c.723 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89205128 | T | TTCTCTCT others(3): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 HG01884.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0001g0110a0001c0001t0001g0142a0001c0001t0006g0193others(3): Show | 6 | 234 | 0.0256 | 10 | c.*97 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205168 | C | CTCTCTCT others(3): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG02027.hp2 HG02071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048a0001c0001t0003g0121a0001c0001t0003g0145others(1): Show | 4 | 234 | 0.0171 | 10 | c.*97 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2814 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21653077 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 304 | 0.0033 | 10 | c.105 others(29): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 8/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21680852 | A | ATGTGTAT others(3): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02451.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0007a0001c0001t0011others(1): Show | a0001c0001t0005g0276a0001c0001t0005g0277a0001c0001t0007g0285others(4): Show | 7 | 304 | 0.0230 | 10 | c.555 others(27): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21704714 | G | GGCGAGCG others(3): Show |
5_prime_UTR_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0139 | 1 | 304 | 0.0033 | 10 | c.-59 others(17): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 1/9 | 50 | chr18 | TogoVar | |||||
ABHD3_chr18_21645901_21709774 | 21704716 | C | CGAGCGGG others(3): Show |
5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(110): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(6): Show | a0001c0001t0002g0005a0001c0001t0002g0140a0001c0001t0002g0141others(109): Show | 113 | 304 | 0.3717 | 10 | c.-61 others(17): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 1/9 | 52 | chr18 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43715085 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01255.hp2 HG01952.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0172a0001c0001t0003g0176a0001c0001t0003g0177others(12): Show | 15 | 286 | 0.0525 | 10 | c.773 others(23): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58256096 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(144): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(138): Show | 147 | 302 | 0.4868 | 10 | c.-25 others(25): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GCATATAT others(3): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18956.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0184a0001c0001t0001g0199 | 3 | 302 | 0.0099 | 10 | c.837 others(27): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286850 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02145.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222a0001c0001t0003g0255a0001c0001t0003g0286others(1): Show | 4 | 302 | 0.0133 | 10 | c.837 others(27): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58286870 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03195.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0185a0001c0001t0001g0235 | 3 | 302 | 0.0099 | 10 | c.837 others(27): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD8_chr19_17287131_17308425 | 17301776 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288a0001c0001t0001g0289 | 2 | 386 | 0.0052 | 10 | c.-8- others(23): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761617 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03195.hp1 NA18952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0171a0001c0001t0002g0206a0001c0001t0002g0251others(2): Show | 5 | 358 | 0.0140 | 10 | c.821 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATACACA others(3): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 358 | 0.0028 | 10 | c.821 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATATACA others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01243.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0045a0001c0001t0001g0048others(9): Show | 12 | 358 | 0.0335 | 10 | c.821 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02486.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0163 | 2 | 358 | 0.0056 | 10 | c.821 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0110 | 2 | 358 | 0.0056 | 10 | c.821 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26773215 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0352 | 1 | 358 | 0.0028 | 10 | c.463 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26816986 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02622.hp2 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0289a0001c0001t0003g0301a0001c0001t0003g0304others(5): Show | 8 | 358 | 0.0224 | 10 | c.285 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26818631 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(35): Show | 38 | 358 | 0.1062 | 10 | c.285 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26833769 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02723.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0004 | a0001c0001t0004g0084a0002c0003t0004g0358 | 2 | 358 | 0.0056 | 10 | c.118 others(29): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26851348 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0079 | 1 | 358 | 0.0028 | 10 | c.117 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203328895 | T | TCGGCCGC others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0320 | 1 | 320 | 0.0031 | 10 | c.117 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203340235 | G | GTGGGGAG others(3): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 320 | 0.0031 | 10 | c.117 others(29): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203355830 | A | AAAACTGT others(3): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 320 | 0.0031 | 10 | 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 | 203358071 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03195.hp2 HG04204.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0018a0001c0001t0004g0134a0001c0001t0004g0148others(5): Show | 8 | 320 | 0.0250 | 10 | c.118 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203364091 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02809.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019a0001c0001t0002g0020a0001c0001t0002g0079 | 3 | 320 | 0.0094 | 10 | c.118 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203370186 | T | TTCTCTCT others(3): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02155.hp1 HG06807.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0013 | a0001c0001t0002g0036a0001c0001t0005g0100a0001c0001t0005g0109others(4): Show | 7 | 320 | 0.0219 | 10 | c.285 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203386430 | G | GTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0162a0001c0001t0006g0173 | 2 | 320 | 0.0063 | 10 | c.480 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203395432 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG00597.hp1 HG03688.hp1 HG03831.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0025 | a0001c0001t0001g0241a0001c0001t0001g0285a0001c0001t0001g0296others(2): Show | 5 | 320 | 0.0156 | 10 | c.726 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203395448 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0206a0001c0001t0003g0208 | 2 | 320 | 0.0063 | 10 | c.726 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203395448 | T | TATATACA others(3): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0299a0001c0001t0003g0287 | 2 | 320 | 0.0063 | 10 | c.726 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203395448 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18980.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245a0001c0001t0001g0304a0001c0001t0001g0316 | 3 | 320 | 0.0094 | 10 | c.726 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203395448 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG01081.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216a0001c0001t0001g0228a0001c0001t0001g0257others(7): Show | 10 | 320 | 0.0313 | 10 | c.726 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203408833 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01169.hp1 HG03491.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0212a0001c0001t0001g0236a0001c0001t0006g0164 | 3 | 320 | 0.0094 | 10 | c.119 others(29): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203434056 | C | CTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0183 | 1 | 320 | 0.0031 | 10 | c.*67 others(21): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1888 | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203434056 | C | CTATCTAT others(3): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0098 | 1 | 320 | 0.0031 | 10 | c.*67 others(21): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1888 | chr2 | TogoVar |