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 | 20713237 | A | AT | intron_variant | MODIFIER | HG01891.hp1 HG01981.hp2 HG02559.hp2 others(5): Show |
a0001a0005a0007others(5): Show | a0001c0001a0005c0006a0007c0016others(5): Show | a0001c0001t0001a0005c0006t0001a0007c0016t0006others(5): Show | a0001c0001t0001g0343 a0005c0006t0001g0263 a0007c0016t0006g0059 others(5): Show |
8 | 347 | 0.0231 | 1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20714348 | C | CA | intron_variant | MODIFIER | HG00438.hp2 HG02056.hp1 HG02135.hp2 others(5): Show |
a0002a0003a0006others(5): Show | a0002c0035a0003c0053a0006c0019others(5): Show | a0002c0035t0005a0003c0053t0001a0006c0019t0001others(5): Show | a0002c0035t0005g0093 a0003c0053t0001g0237 a0006c0019t0001g0321 others(5): Show |
8 | 343 | 0.0233 | 1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20715726 | C | CT | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00738.hp1 others(54): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0005a0001c0061others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(35): Show | a0001c0001t0001g0116 a0001c0001t0001g0241 a0001c0001t0001g0293 others(54): Show |
57 | 351 | 0.1624 | 1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20716504 | A | AT | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 HG02976.hp1 others(6): Show |
a0001a0004a0007others(6): Show | a0001c0001a0004c0008a0007c0016others(6): Show | a0001c0001t0001a0004c0008t0005a0007c0016t0006others(6): Show | a0001c0001t0001g0343 a0004c0008t0005g0339 a0007c0016t0006g0059 others(6): Show |
9 | 358 | 0.0251 | 1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20717437 | C | CT | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG01070.hp2 others(31): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0077others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(17): Show | a0001c0001t0001g0208 a0001c0001t0001g0270 a0001c0001t0001g0293 others(31): Show |
34 | 275 | 0.1236 | 1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20717883 | C | CT | intron_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG01169.hp1 others(16): Show |
a0001a0003a0004others(12): Show | a0001c0001a0001c0005a0003c0053others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(15): Show | a0001c0001t0001g0264 a0001c0001t0002g0266 a0001c0005t0001g0228 others(16): Show |
19 | 39 | 0.4872 | 1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20718079 | G | GT | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00738.hp1 others(50): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0005a0001c0061others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(34): Show | a0001c0001t0001g0116 a0001c0001t0001g0241 a0001c0001t0001g0296 others(50): Show |
53 | 357 | 0.1485 | 1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20720943 | C | CA | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(125): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0005a0001c0064others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(56): Show | a0001c0001t0001g0056 a0001c0001t0001g0138 a0001c0001t0001g0222 others(124): Show |
128 | 183 | 0.6995 | 1 | c.242 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20724186 | C | CT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(56): Show |
a0004a0008a0010others(8): Show | a0004c0004a0004c0008a0008c0009others(13): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0024others(24): Show | a0004c0004t0001g0002 a0004c0004t0001g0134 a0004c0004t0001g0135 others(55): Show |
59 | 358 | 0.1648 | 1 | c.262 others(9): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20724628 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG02257.hp1 others(6): Show |
a0002a0004a0005others(2): Show | a0002c0012a0004c0004a0005c0015others(4): Show | a0002c0012t0001a0004c0004t0001a0004c0004t0002others(5): Show | a0002c0012t0001g0082 a0004c0004t0001g0134 a0004c0004t0002g0279 others(6): Show |
9 | 75 | 0.1200 | 1 | c.262 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20726358 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(89): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0005a0001c0064others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(40): Show | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0208 others(88): Show |
92 | 118 | 0.7797 | 1 | c.262 others(9): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20727860 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(199): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0005a0001c0061others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(71): Show | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0137 others(198): Show |
202 | 358 | 0.5642 | 1 | c.272 others(9): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20731355 | G | GA | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02717.hp2 others(9): Show |
a0002a0003a0004others(6): Show | a0002c0014a0002c0048a0003c0010others(8): Show | a0002c0014t0011a0002c0048t0012a0003c0010t0002others(8): Show | a0002c0014t0011g0012 a0002c0048t0012g0062 a0003c0010t0002g0149 others(9): Show |
12 | 350 | 0.0343 | 1 | c.286 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20731365 | A | AT | intron_variant | MODIFIER | HG00280.hp1 HG01515.hp1 HG02683.hp2 others(3): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0002a0006c0019others(1): Show | a0001c0001t0001a0003c0002t0001a0006c0019t0001others(2): Show | a0001c0001t0001g0241 a0003c0002t0001g0148 a0003c0002t0001g0194 others(3): Show |
6 | 345 | 0.0174 | 1 | c.286 others(20): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20731367 | A | AT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(106): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0005a0001c0064others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(45): Show | a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0001t0001g0138 others(106): Show |
109 | 323 | 0.3375 | 1 | c.286 others(20): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20731369 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(90): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0005a0001c0061others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(53): Show | a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0002g0265 others(90): Show |
93 | 133 | 0.6992 | 1 | c.286 others(20): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20737286 | T | TA | intron_variant | MODIFIER | HG02135.hp2 NA18612.hp2 NA18949.hp2 others(2): Show |
a0009a0013a0062others(2): Show | a0009c0018a0013c0022a0062c0081others(2): Show | a0009c0018t0008a0013c0022t0021a0062c0081t0008others(2): Show | a0009c0018t0008g0312 a0013c0022t0021g0161 a0062c0081t0008g0106 others(2): Show |
5 | 358 | 0.0140 | 1 | c.286 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20737752 | T | TA | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG01074.hp1 others(21): Show |
a0001a0003a0007others(13): Show | a0001c0001a0001c0005a0003c0002others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(16): Show | a0001c0001t0001g0116 a0001c0001t0001g0248 a0001c0001t0001g0264 others(21): Show |
24 | 358 | 0.0670 | 1 | c.286 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20739221 | A | AG | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(244): Show |
a0001a0002a0003others(40): Show | a0001c0001a0001c0005a0001c0061others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(90): Show | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0137 others(242): Show |
247 | 339 | 0.7286 | 1 | c.302 others(8): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20741102 | C | CA | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG01952.hp2 others(10): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0005a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(9): Show | a0001c0001t0001g0137 a0001c0001t0002g0069 a0001c0005t0001g0246 others(10): Show |
13 | 356 | 0.0365 | 1 | c.302 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20746106 | C | CT | intron_variant | MODIFIER | HG01981.hp1 HG02074.hp2 HG02135.hp2 others(34): Show |
a0002a0005a0006others(21): Show | a0002c0003a0005c0015a0006c0007others(27): Show | a0002c0003t0009a0002c0003t0011a0005c0015t0004others(30): Show | a0002c0003t0009g0014 a0002c0003t0011g0015 a0005c0015t0004g0055 others(34): Show |
37 | 358 | 0.1034 | 1 | c.342 others(9): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20749395 | A | AT | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01192.hp2 others(41): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0005a0001c0061others(23): Show | a0001c0001t0001a0001c0005t0001a0001c0061t0001others(23): Show | a0001c0001t0001g0056 a0001c0001t0001g0137 a0001c0001t0001g0222 others(41): Show |
44 | 245 | 0.1796 | 1 | c.343 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20751257 | T | TA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(102): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0005a0002c0003others(56): Show | a0001c0001t0002a0001c0005t0002a0002c0003t0007others(65): Show | a0001c0001t0002g0069 a0001c0001t0002g0217 a0001c0001t0002g0244 others(101): Show |
105 | 358 | 0.2933 | 1 | c.343 others(10): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20757528 | C | CT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp1 others(42): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0003a0002c0012others(24): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(31): Show | a0001c0001t0001g0239 a0001c0001t0001g0270 a0002c0003t0001g0347 others(42): Show |
45 | 321 | 0.1402 | 1 | c.*19 others(12): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 521 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20757973 | C | CT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(66): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0005a0002c0003others(31): Show | a0001c0001t0002a0001c0005t0002a0002c0003t0007others(37): Show | a0001c0001t0002g0069 a0001c0001t0002g0217 a0001c0001t0002g0244 others(66): Show |
69 | 354 | 0.1949 | 1 | c.*23 others(12): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 966 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20758300 | C | CT | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01255.hp2 HG01433.hp1 others(15): Show |
a0001a0002a0003others(5): Show | a0001c0005a0001c0061a0002c0003others(9): Show | a0001c0005t0001a0001c0061t0001a0002c0003t0003others(9): Show | a0001c0005t0001g0247 a0001c0061t0001g0267 a0002c0003t0003g0038 others(15): Show |
18 | 268 | 0.0672 | 1 | c.*26 others(12): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 1293 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20758303 | T | TC | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG02965.hp2 others(1): Show |
a0002a0036 | a0002c0014a0002c0035a0002c0048others(1): Show | a0002c0014t0011a0002c0035t0005a0002c0048t0012others(1): Show | a0002c0014t0011g0012 a0002c0035t0005g0093 a0002c0048t0012g0062 others(1): Show |
4 | 358 | 0.0112 | 1 | c.*26 others(12): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 1296 | chr7 | TogoVar | |||||||
ABCB6_chr2_219204772_219223958 | 219205858 | C | CA | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG02257.hp2 others(8): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0009 | a0001c0001t0001a0001c0002t0002a0008c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0042 others(3): Show |
11 | 354 | 0.0311 | 1 | c.*40 others(6): Show |
ABCB6 | ENSG00000115657.14 | transcript | ENST00000265316.9 | protein_coding | 3913 | chr2 | TogoVar | |||||||
ABCB6_chr2_219204772_219223958 | 219211764 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0002a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(37): Show |
237 | 347 | 0.6830 | 1 | c.196 others(9): Show |
ABCB6 | ENSG00000115657.14 | transcript | ENST00000265316.9 | protein_coding | 14/18 | chr2 | TogoVar | |||||||
ABCB6_chr2_219204772_219223958 | 219217643 | C | CA | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00642.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0002t0002g0002 others(4): Show |
35 | 354 | 0.0989 | 1 | c.687 others(7): Show |
ABCB6 | ENSG00000115657.14 | transcript | ENST00000265316.9 | protein_coding | 2/18 | chr2 | TogoVar | |||||||
ABCB6_chr2_219204772_219223958 | 219217920 | T | TA | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp1 others(39): Show |
a0001a0012 | a0001c0001a0001c0002a0012c0017 | a0001c0001t0001a0001c0002t0002a0012c0017t0002 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0002t0002g0003 others(11): Show |
42 | 348 | 0.1207 | 1 | c.550 others(8): Show |
ABCB6 | ENSG00000115657.14 | transcript | ENST00000265316.9 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
ABCB6_chr2_219204772_219223958 | 219223087 | C | CT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01243.hp2 HG02055.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(6): Show |
23 | 308 | 0.0747 | 1 | c.-44 others(6): Show |
ABCB6 | ENSG00000115657.14 | transcript | ENST00000265316.9 | protein_coding | 4130 | chr2 | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75050782 | G | GA | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0011a0001c0003t0016 | a0001c0003t0006g0219 a0001c0003t0006g0220 a0001c0003t0006g0221 others(6): Show |
9 | 230 | 0.0391 | 1 | c.*25 others(12): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 265 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75051141 | G | GA | 3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG00738.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0010g0040 a0001c0001t0010g0147 a0001c0001t0010g0196 others(20): Show |
23 | 226 | 0.1018 | 1 | c.*22 others(6): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 16/16 | 2228 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75052134 | G | GT | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01884.hp1 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0007 others(14): Show |
17 | 230 | 0.0739 | 1 | c.*12 others(6): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 16/16 | 1235 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75052466 | C | CA | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(151): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0024 others(150): Show |
154 | 208 | 0.7404 | 1 | c.*90 others(5): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 16/16 | 903 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75052777 | C | CA | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01884.hp1 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0007 others(14): Show |
17 | 221 | 0.0769 | 1 | c.*59 others(5): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 16/16 | 592 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75052793 | C | CA | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01884.hp1 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0007 others(14): Show |
17 | 230 | 0.0739 | 1 | c.*57 others(5): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 16/16 | 576 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75055553 | C | CA | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01255.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(4): Show | a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0065 others(19): Show |
22 | 113 | 0.1947 | 1 | c.204 others(10): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 15/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75055858 | A | AT | intron_variant | MODIFIER | HG01243.hp1 HG02015.hp1 HG02109.hp2 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0002g0111 a0001c0001t0004g0051 a0001c0001t0004g0052 others(13): Show |
16 | 228 | 0.0702 | 1 | c.204 others(10): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 15/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75060439 | G | GT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01884.hp1 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0007 others(14): Show |
17 | 230 | 0.0739 | 1 | c.193 others(9): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 14/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75064861 | G | GA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(168): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0024 others(167): Show |
171 | 223 | 0.7668 | 1 | c.183 others(9): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 13/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75074999 | G | GA | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0011a0001c0003t0016 | a0001c0003t0006g0219 a0001c0003t0006g0220 a0001c0003t0006g0221 others(4): Show |
7 | 230 | 0.0304 | 1 | c.855 others(8): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 6/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75085851 | A | AT | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG01258.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(24): Show |
27 | 204 | 0.1324 | 1 | c.454 others(9): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75088846 | C | CA | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0011a0001c0003t0016 | a0001c0003t0006g0219 a0001c0003t0006g0220 a0001c0003t0006g0221 others(6): Show |
9 | 106 | 0.0849 | 1 | c.453 others(10): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75091675 | G | GA | intron_variant | MODIFIER | HG01109.hp1 HG02523.hp1 HG02630.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0119 a0001c0001t0001g0170 a0001c0001t0002g0061 others(7): Show |
10 | 221 | 0.0452 | 1 | c.453 others(9): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75101084 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(210): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0024 others(208): Show |
213 | 230 | 0.9261 | 1 | c.334 others(9): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01978.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0198 a0001c0001t0002g0066 a0001c0001t0002g0079 others(9): Show |
12 | 33 | 0.3636 | 1 | c.334 others(9): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75108581 | G | GA | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01167.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0161 a0001c0001t0001g0181 a0001c0001t0001g0202 others(16): Show |
19 | 224 | 0.0848 | 1 | c.333 others(9): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75112750 | G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(177): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0003c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0024 others(175): Show |
180 | 230 | 0.7826 | 1 | c.333 others(8): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar |