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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB5_chr7_20610667_20762008 | 20679485 | A | AAAAAAAG | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG02055.hp2 others(6): Show |
a0002a0007a0023others(6): Show | a0002c0003a0007c0016a0023c0073others(6): Show | a0002c0003t0003a0007c0016t0006a0023c0073t0017others(6): Show | a0002c0003t0003g0018 a0007c0016t0006g0059 a0023c0073t0017g0057 others(6): Show |
9 | 355 | 0.0254 | 7 | c.170 others(26): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20704075 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(26): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0005a0003c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0264 a0001c0001t0002g0217 others(25): Show |
29 | 71 | 0.4085 | 7 | c.233 others(24): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20707801 | C | CTTTTTTT | intron_variant | MODIFIER | HG01175.hp1 HG01928.hp2 HG02055.hp1 others(9): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0002a0004c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(8): Show | a0001c0001t0001g0208 a0001c0001t0002g0069 a0001c0001t0002g0273 others(9): Show |
12 | 21 | 0.5714 | 7 | c.242 others(26): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCC10_chr6_43422541_43455427 | 43429369 | T | TGTGTGTG | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02970.hp2 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0002 | a0001c0001t0001g0096 a0002c0007t0002g0094 a0002c0007t0002g0095 |
3 | 221 | 0.0136 | 7 | c.161 others(24): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 2/21 | chr6 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15947947 | A | ACCTTCCT | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02735.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0139 a0001c0002t0001g0234 a0001c0002t0003g0233 |
3 | 248 | 0.0121 | 7 | c.-18 others(18): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1668 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15982803 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02895.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0025 | a0001c0001t0006a0001c0001t0010a0001c0001t0016others(3): Show | a0001c0001t0006g0096 a0001c0001t0010g0120 a0001c0001t0016g0018 others(4): Show |
7 | 56 | 0.1250 | 7 | c.49- others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15999809 | C | CTCTCTCT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01978.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0003a0001c0002t0007others(2): Show | a0001c0001t0001g0220 a0001c0002t0003g0014 a0001c0002t0007g0034 others(2): Show |
5 | 85 | 0.0588 | 7 | c.49- others(22): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16010037 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG00673.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(4): Show | a0001c0001t0001g0071 a0001c0001t0001g0160 a0001c0001t0006g0171 others(8): Show |
11 | 44 | 0.2500 | 7 | c.351 others(22): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16034023 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0017a0001c0002t0001others(14): Show | a0001c0001t0003g0061 a0001c0001t0017g0023 a0001c0002t0001g0139 others(34): Show |
37 | 82 | 0.4512 | 7 | c.677 others(22): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16125739 | G | GAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01168.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0005a0001c0001t0008a0001c0002t0001others(4): Show | a0001c0001t0005g0101 a0001c0001t0008g0002 a0001c0002t0001g0028 others(7): Show |
10 | 25 | 0.4000 | 7 | c.371 others(22): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 25/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16132510 | G | GTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01928.hp2 HG01934.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0004others(4): Show | a0001c0001t0001g0084 a0001c0001t0004g0247 a0001c0002t0004g0191 others(5): Show |
8 | 120 | 0.0667 | 7 | c.396 others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16139611 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp2 HG02135.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0010a0001c0001t0011a0001c0001t0014others(5): Show | a0001c0001t0010g0041 a0001c0001t0010g0087 a0001c0001t0010g0120 others(7): Show |
10 | 96 | 0.1042 | 7 | c.448 others(26): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 30/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50651066 | G | GAAAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG02615.hp1 HG02976.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0252 others(6): Show |
10 | 186 | 0.0538 | 7 | c.46- others(22): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50671702 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01081.hp1 HG02055.hp1 others(6): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0005a0005c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0005t0002others(2): Show | a0001c0001t0001g0190 a0001c0001t0002g0097 a0001c0001t0002g0293 others(6): Show |
9 | 91 | 0.0989 | 7 | c.224 others(26): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95037084 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01433.hp1 others(7): Show |
a0001a0002 | a0001c0010a0001c0014a0001c0022others(5): Show | a0001c0010t0007a0001c0014t0007a0001c0022t0022others(5): Show | a0001c0010t0007g0165 a0001c0014t0007g0175 a0001c0014t0007g0190 others(7): Show |
10 | 23 | 0.4348 | 7 | c.373 others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 29/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95047476 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG01169.hp2 HG02155.hp1 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(12): Show | a0001c0001t0001g0212 a0001c0001t0005g0044 a0001c0002t0001g0167 others(15): Show |
18 | 70 | 0.2571 | 7 | c.345 others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 27/30 | chr13 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16152192 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(75): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0004a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0001g0079 others(75): Show |
78 | 95 | 0.8211 | 7 | c.420 others(26): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 29/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16174759 | A | ACCCCCCC | intron_variant | MODIFIER | HG01256.hp2 HG02451.hp1 NA18947.hp2 others(6): Show |
a0001a0005a0015 | a0001c0001a0001c0004a0005c0031others(1): Show | a0001c0001t0001a0001c0004t0001a0005c0031t0001others(1): Show | a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0227 others(6): Show |
9 | 237 | 0.0380 | 7 | c.266 others(26): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 20/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16174760 | A | ACCCCCCC | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01257.hp1 others(11): Show |
a0001a0005a0010others(2): Show | a0001c0002a0001c0026a0005c0012others(3): Show | a0001c0002t0001a0001c0026t0001a0005c0012t0001others(3): Show | a0001c0002t0001g0010 a0001c0002t0001g0085 a0001c0002t0001g0093 others(11): Show |
14 | 156 | 0.0897 | 7 | c.266 others(26): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 20/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16227415 | T | TGACATCC | upstream_gene_variant | MODIFIER | HG00597.hp2 HG02135.hp1 HG02155.hp2 others(11): Show |
a0001a0005a0016others(1): Show | a0001c0001a0001c0002a0005c0012others(2): Show | a0001c0001t0001a0001c0002t0001a0005c0012t0001others(2): Show | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0143 others(11): Show |
14 | 356 | 0.0393 | 7 | c.-39 others(18): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 3922 | chr16 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17415065 | G | GAAGAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(317): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0004others(77): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(84): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(313): Show |
320 | 328 | 0.9756 | 7 | c.229 others(24): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 18/38 | chr11 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17450685 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00609.hp1 others(60): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0006others(21): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(22): Show | a0001c0001t0001g0076 a0001c0001t0001g0173 a0001c0003t0001g0030 others(60): Show |
63 | 244 | 0.2582 | 7 | c.117 others(26): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | |||||||
ABCD4_chr14_74280269_74307934 | 74280649 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(183): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0004a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(103): Show |
186 | 188 | 0.9894 | 7 | c.*58 others(18): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 4619 | chr14 | TogoVar | |||||||
ABCF1_chr6_30566442_30596522 | 30576276 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01358.hp2 HG02135.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0001 | a0001c0001t0001g0007 a0001c0001t0001g0199 a0001c0001t0001g0200 others(7): Show |
17 | 116 | 0.1466 | 7 | c.74- others(22): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184191739 | G | GTTCCTTT | intron_variant | MODIFIER | HG01257.hp1 HG01261.hp2 HG02055.hp1 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0009 | 10 | 330 | 0.0303 | 7 | c.156 others(24): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88125607 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG01261.hp2 HG02615.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0080 a0001c0001t0001g0165 a0001c0001t0001g0170 others(4): Show |
7 | 62 | 0.1129 | 7 | c.532 others(24): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 5/15 | chr4 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119147517 | G | GGAAGGAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(50): Show |
a0001 | a0001c0001a0001c0009a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(15): Show |
53 | 349 | 0.1519 | 7 | c.-18 others(18): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1534 | chr11 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43887143 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG01884.hp1 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0002others(3): Show | a0001c0001t0011a0002c0003t0039a0002c0003t0041others(7): Show | a0001c0001t0011g0011 a0001c0001t0011g0124 a0002c0003t0039g0170 others(10): Show |
14 | 131 | 0.1069 | 7 | c.*92 others(18): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 4156 | chr2 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322382 | T | TATATATA | intron_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01891.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0004 | a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0234 others(5): Show |
8 | 313 | 0.0256 | 7 | c.422 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25359423 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0004 | a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0234 others(6): Show |
9 | 146 | 0.0616 | 7 | c.192 others(26): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25360227 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp2 others(20): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0006 | a0001c0002t0002a0001c0002t0006a0001c0003t0002others(1): Show | a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 others(20): Show |
23 | 92 | 0.2500 | 7 | c.192 others(26): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25387589 | T | TAAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01891.hp1 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0234 others(14): Show |
18 | 154 | 0.1169 | 7 | c.191 others(24): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25387590 | T | TAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(79): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0007a0004c0009t0001 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(79): Show |
82 | 125 | 0.6560 | 7 | c.191 others(24): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108215424 | C | CGCCCCTA | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01081.hp2 HG01243.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0022 others(14): Show |
41 | 388 | 0.1057 | 7 | c.-32 others(18): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2967 | chr13 | TogoVar | |||||||
ABHD15_chr17_29555547_29572037 | 29568662 | G | GGGGGCGC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(61): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0034 others(25): Show |
64 | 415 | 0.1542 | 7 | c.-16 others(18): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 1626 | chr17 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31694387 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(85): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0002others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0026 others(35): Show |
88 | 129 | 0.6822 | 7 | c.430 others(22): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 5/19 | chr6 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1874746 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG02723.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0004g0026 |
12 | 71 | 0.1690 | 7 | c.*24 others(18): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | |||||||
ABHD1_chr2_27118815_27135812 | 27134629 | C | CGCGCACT | downstream_gene_variant | MODIFIER | HG02451.hp2 HG03209.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 3 | 398 | 0.0075 | 7 | c.*38 others(18): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 3818 | chr2 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89170080 | C | CTTTTTTT | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(3): Show | a0001c0001t0001g0200 a0001c0001t0006g0164 a0001c0001t0010g0171 others(3): Show |
6 | 10 | 0.6000 | 7 | c.539 others(24): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | ATATATAT | intron_variant | MODIFIER | HG02622.hp1 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0112 |
2 | 92 | 0.0217 | 7 | c.723 others(24): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | chr15 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21653077 | A | AAAAAAAG | intron_variant | MODIFIER | HG01081.hp2 HG01358.hp2 HG01891.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0041 a0001c0001t0002g0150 a0001c0001t0002g0153 others(15): Show |
18 | 127 | 0.1417 | 7 | c.105 others(26): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 8/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21668217 | A | AAAAAAAG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00735.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0066 others(24): Show |
27 | 290 | 0.0931 | 7 | c.556 others(24): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD6_chr3_58232792_58299734 | 58271766 | G | GTTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0236 others(3): Show |
6 | 58 | 0.1034 | 7 | c.523 others(22): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58282217 | G | GCCAGGAA | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0238 a0001c0001t0008g0239 a0001c0001t0008g0248 others(3): Show |
6 | 300 | 0.0200 | 7 | c.682 others(24): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17290983 | C | CAAACAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(63): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0274 a0001c0001t0002g0092 a0001c0001t0002g0094 others(53): Show |
66 | 382 | 0.1728 | 7 | c.*16 others(18): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1147 | chr19 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26851348 | A | ATTTTTTT | intron_variant | MODIFIER | HG01099.hp1 HG01261.hp2 HG01358.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0004g0081 others(12): Show |
15 | 72 | 0.2083 | 7 | c.117 others(24): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26858454 | C | CTTTTTTT | intron_variant | MODIFIER | HG02738.hp2 HG03486.hp1 NA18955.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0015 a0001c0001t0003g0004 a0001c0001t0003g0287 others(4): Show |
7 | 307 | 0.0228 | 7 | c.117 others(24): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203331348 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 others(189): Show |
192 | 219 | 0.8767 | 7 | c.117 others(24): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100841194 | C | CTTTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG02258.hp1 HG02683.hp1 others(2): Show |
a0001a0003a0010others(1): Show | a0001c0013a0003c0027a0010c0061others(1): Show | a0001c0013t0002a0001c0013t0005a0003c0027t0002others(2): Show | a0001c0013t0002g0116 a0001c0013t0005g0118 a0003c0027t0002g0009 others(2): Show |
5 | 59 | 0.0847 | 7 | c.176 others(24): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 21/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100867640 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0009others(5): Show | a0001c0001t0003a0001c0001t0021a0001c0004t0002others(6): Show | a0001c0001t0003g0112 a0001c0001t0021g0076 a0001c0004t0002g0022 others(7): Show |
10 | 83 | 0.1205 | 7 | c.911 others(22): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 9/67 | chr3 | TogoVar |