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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC4_chr13_95014835_95306451 | 95176219 | AGGGCAGG others(6): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 HG02886.hp2 others(1): Show |
a0002a0015 | a0002c0005a0002c0020a0002c0060others(1): Show | a0002c0005t0002a0002c0020t0004a0002c0060t0004others(1): Show | a0002c0005t0002g0017a0002c0020t0004g0016a0002c0060t0004g0022others(1): Show | 4 | 248 | 0.0161 | -13 | c.172 others(32): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 13/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95176223 | CAGGGGGG others(6): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0021 | 1 | 248 | 0.0040 | -13 | c.172 others(32): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 13/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95259973 | GTTTCTCA others(6): Show |
G | intron_variant | MODIFIER | HG02155.hp2 HG03017.hp1 NA18950.hp1 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0011a0002c0004a0003c0016others(1): Show | a0001c0011t0008a0002c0004t0008a0003c0016t0008others(1): Show | a0001c0011t0008g0244a0002c0004t0008g0241a0003c0016t0008g0245others(1): Show | 4 | 248 | 0.0161 | -13 | c.75- others(30): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95283360 | GGTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0042 | a0001c0042t0004 | a0001c0042t0004g0040 | 1 | 248 | 0.0040 | -13 | c.74+ others(30): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95283361 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01074.hp1 others(70): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(45): Show | a0001c0001t0001g0063a0001c0001t0001g0083a0001c0001t0001g0084others(70): Show | 73 | 248 | 0.2944 | -13 | c.74+ others(30): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 183916420 | ATTTTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00738.hp2 others(17): Show |
a0001a0008 | a0001c0002a0008c0015 | a0001c0002t0001a0008c0015t0001 | a0001c0002t0001g0029a0001c0002t0001g0030a0001c0002t0001g0031others(17): Show | 20 | 378 | 0.0529 | -13 | c.*48 others(24): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 3513 | chr3 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16218872 | ATTTAGTA others(6): Show |
A | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0197 | 1 | 357 | 0.0028 | -13 | c.474 others(28): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 4/30 | chr16 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17437091 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0072 | 1 | 330 | 0.0030 | -13 | c.163 others(32): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 10/38 | chr11 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21816036 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 212 | 0.0047 | -13 | c.389 others(30): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 33/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21824916 | ATTTTGTT others(6): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG01106.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(26): Show | 30 | 212 | 0.1415 | -13 | c.366 others(32): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21841347 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0127 | 1 | 212 | 0.0047 | -13 | c.347 others(30): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 29/39 | chr12 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94477227 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0256 | 1 | 362 | 0.0028 | -13 | c.628 others(30): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD4_chr14_74280269_74307934 | 74306160 | ATATATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG02135.hp2 NA18953.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0094a0001c0001t0001g0135others(4): Show | 15 | 384 | 0.0391 | -13 | c.-32 others(24): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3227 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306162 | ATATATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0003 | a0003c0003t0013 | a0003c0003t0013g0136 | 1 | 384 | 0.0026 | -13 | c.-32 others(24): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3229 | chr14 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30596204 | GTTTCTTT others(6): Show |
G | downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 415 | 0.0024 | -13 | c.*55 others(24): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 4683 | chr6 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42217679 | CTTTTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02698.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0038a0001c0001t0007g0046 | 2 | 354 | 0.0057 | -13 | c.-15 others(24): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 1460 | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42293950 | ACCACACA others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(191): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0076a0001c0001t0001g0089a0001c0001t0001g0096others(187): Show | 194 | 354 | 0.5480 | -13 | c.165 others(30): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42295333 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 354 | 0.0028 | -13 | c.177 others(30): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG2_chr4_88085269_88163639 | 88125607 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0078 | 1 | 350 | 0.0029 | -13 | c.532 others(30): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 5/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88157201 | ATGACACT others(6): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp1 others(162): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0174a0001c0001t0001g0175a0001c0001t0001g0176others(159): Show | 165 | 350 | 0.4714 | -13 | c.-20 others(30): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119147451 | AGAAAGAA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0092a0001c0001t0007g0094a0001c0001t0008g0038others(1): Show | 5 | 388 | 0.0129 | -13 | c.-19 others(24): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1600 | chr11 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119147505 | GAAAGAAA others(6): Show |
G | upstream_gene_variant | MODIFIER | HG02647.hp1 HG03540.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0031 | 2 | 388 | 0.0052 | -13 | c.-18 others(24): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1546 | chr11 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25325003 | TGATACCA others(6): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0267a0001c0001t0004g0291a0001c0005t0004g0293others(1): Show | 4 | 316 | 0.0127 | -13 | c.317 others(30): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25360227 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0304a0001c0001t0009g0305a0001c0001t0009g0306others(2): Show | 5 | 316 | 0.0158 | -13 | c.192 others(32): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004 | 10 | 344 | 0.0291 | -13 | c.*87 others(22): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | ||||||
ABHD14B_chr3_51963515_51979049 | 51968314 | ACCTCCCC others(6): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG01074.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0030a0001c0001t0001g0045others(1): Show | 14 | 324 | 0.0432 | -13 | c.*10 others(24): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 200 | chr3 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31706251 | TTCTTTTC others(6): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01257.hp1 others(16): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002 | a0001c0002t0001g0004a0001c0003t0002g0005a0001c0003t0002g0026others(3): Show | 19 | 417 | 0.0456 | -13 | c.-29 others(24): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 2928 | chr6 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1874746 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | -13 | c.*24 others(24): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127966702 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02451.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0043 | a0001c0001t0002g0258a0001c0001t0043g0259 | 2 | 344 | 0.0058 | -13 | c.-18 others(30): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128039151 | ATATATAT others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0208 | 1 | 344 | 0.0029 | -13 | c.*33 others(24): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3339 | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128044193 | AAGGAATT others(6): Show |
A | downstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 344 | 0.0029 | -13 | c.*83 others(24): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4241 | chr4 | TogoVar | ||||||
ABHD1_chr2_27118815_27135812 | 27134038 | TGAGGCGG others(6): Show |
T | downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 400 | 0.0025 | -13 | c.*32 others(24): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 3227 | chr2 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89115420 | GTGTGTGT others(6): Show |
G | intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 234 | 0.0043 | -13 | c.-6- others(26): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89170080 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0031 | a0001c0001t0018g0036a0001c0001t0031g0229 | 2 | 234 | 0.0086 | -13 | c.539 others(30): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183383 | AAATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047a0001c0001t0003g0155 | 2 | 234 | 0.0086 | -13 | c.723 others(30): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183385 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 234 | 0.0043 | -13 | c.723 others(30): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21664991 | CTGGAGTG others(6): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0193a0001c0001t0003g0255 | 2 | 304 | 0.0066 | -13 | c.556 others(28): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43703744 | TATGTACC others(6): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(74): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(15): Show | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0011others(52): Show | 77 | 286 | 0.2692 | -13 | c.506 others(30): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58252229 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 302 | 0.0033 | -13 | c.-26 others(30): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD8_chr19_17287131_17308425 | 17289410 | CAAATAAT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02809.hp1 HG03453.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0004g0180a0001c0001t0005g0124a0001c0001t0008g0185others(3): Show | 6 | 386 | 0.0155 | -13 | c.*32 others(24): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2720 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26818158 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0349a0001c0001t0006g0353 | 2 | 358 | 0.0056 | -13 | c.285 others(30): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26843478 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02040.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0057a0001c0001t0005g0276 | 2 | 358 | 0.0056 | -13 | c.117 others(32): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26843480 | AAAAAAAT others(6): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0283 | 1 | 358 | 0.0028 | -13 | c.117 others(32): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26843482 | AAAAATAT others(6): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0277a0001c0001t0003g0278a0001c0001t0003g0280others(2): Show | 5 | 358 | 0.0140 | -13 | c.117 others(32): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26857320 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0356 | 1 | 358 | 0.0028 | -13 | c.117 others(30): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26858537 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02976.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0285a0001c0001t0003g0345a0001c0001t0003g0346 | 3 | 358 | 0.0084 | -13 | c.117 others(30): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100800151 | AATTTCTC others(6): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0218 | 1 | 238 | 0.0042 | -13 | c.375 others(32): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 51/67 | chr3 | TogoVar | ||||||
ABL1_chr9_130830254_130892675 | 130859672 | CTTTCCTT others(6): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0247 | 1 | 278 | 0.0036 | -13 | c.550 others(30): Show |
ABL1 | ENSG00000097007.20 | transcript | ENST00000318560.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ABL2_chr1_179094330_179234677 | 179101996 | CTTTTTTT others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01928.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0065a0002c0005t0022 | a0001c0001t0065g0037a0002c0005t0022g0253a0002c0005t0022g0275others(2): Show | 5 | 350 | 0.0143 | -13 | c.*57 others(24): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 12/12 | 5709 | chr1 | TogoVar | |||||
ABL2_chr1_179094330_179234677 | 179174901 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0096a0001c0001t0097 | a0001c0001t0096g0306a0001c0001t0097g0304 | 2 | 350 | 0.0057 | -13 | c.158 others(32): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar |