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 | 20629145 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(43): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0002c0012others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(26): Show | a0001c0001t0001g0241 a0001c0001t0002g0069 a0001c0001t0002g0217 others(43): Show |
46 | 66 | 0.6970 | 8 | c.259 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20634238 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19006.hp1 NA19011.hp2 others(2): Show |
a0002a0030a0051 | a0002c0003a0002c0014a0030c0033others(1): Show | a0002c0003t0003a0002c0014t0003a0030c0033t0003others(1): Show | a0002c0003t0003g0046 a0002c0003t0003g0049 a0002c0014t0003g0003 others(2): Show |
5 | 96 | 0.0521 | 8 | c.314 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20661534 | C | CTCTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01243.hp1 others(17): Show |
a0002a0007a0011others(5): Show | a0002c0003a0002c0012a0002c0035others(12): Show | a0002c0003t0003a0002c0012t0001a0002c0035t0005others(14): Show | a0002c0003t0003g0018 a0002c0012t0001g0090 a0002c0012t0001g0092 others(17): Show |
20 | 337 | 0.0593 | 8 | c.170 others(27): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20663775 | G | GCATGATC others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02622.hp2 others(2): Show |
a0002a0007a0010others(1): Show | a0002c0003a0007c0016a0010c0025others(1): Show | a0002c0003t0009a0007c0016t0001a0007c0016t0003others(2): Show | a0002c0003t0009g0014 a0007c0016t0001g0117 a0007c0016t0003g0008 others(2): Show |
5 | 358 | 0.0140 | 8 | c.170 others(27): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20665724 | A | AAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01069.hp1 others(36): Show |
a0001a0002a0003others(19): Show | a0001c0001a0002c0003a0002c0012others(24): Show | a0001c0001t0001a0002c0003t0003a0002c0012t0001others(27): Show | a0001c0001t0001g0255 a0001c0001t0001g0293 a0001c0001t0001g0296 others(36): Show |
39 | 193 | 0.2021 | 8 | c.170 others(27): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20665768 | G | GATACATA others(1): Show |
intron_variant | MODIFIER | HG03688.hp2 NA18980.hp2 NA19057.hp1 |
a0001a0003a0013 | a0001c0001a0003c0002a0013c0023 | a0001c0001t0001a0003c0002t0001a0013c0023t0001 | a0001c0001t0001g0325 a0003c0002t0001g0154 a0013c0023t0001g0182 |
3 | 127 | 0.0236 | 8 | c.170 others(27): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20679471 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(132): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0005a0001c0061others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(69): Show | a0001c0001t0001g0208 a0001c0001t0001g0223 a0001c0001t0001g0231 others(132): Show |
135 | 151 | 0.8940 | 8 | c.170 others(27): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20691582 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00639.hp1 others(21): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0061others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(15): Show | a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0001t0002g0069 others(21): Show |
24 | 84 | 0.2857 | 8 | c.201 others(27): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20704075 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02559.hp2 others(3): Show |
a0001a0005a0007others(2): Show | a0001c0061a0005c0006a0005c0015others(3): Show | a0001c0061t0001a0005c0006t0001a0005c0015t0004others(3): Show | a0001c0061t0001g0267 a0005c0006t0001g0282 a0005c0015t0004g0215 others(3): Show |
6 | 48 | 0.1250 | 8 | c.233 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20711778 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01069.hp2 others(6): Show |
a0001a0004a0005others(5): Show | a0001c0001a0004c0004a0005c0006others(5): Show | a0001c0001t0002a0004c0004t0024a0005c0006t0001others(5): Show | a0001c0001t0002g0295 a0004c0004t0024g0142 a0005c0006t0001g0282 others(6): Show |
9 | 292 | 0.0308 | 8 | c.242 others(27): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20750383 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02647.hp2 others(4): Show |
a0002a0036a0042others(2): Show | a0002c0014a0002c0035a0002c0048others(4): Show | a0002c0014t0011a0002c0035t0005a0002c0048t0012others(4): Show | a0002c0014t0011g0012 a0002c0035t0005g0093 a0002c0048t0012g0062 others(4): Show |
7 | 219 | 0.0320 | 8 | c.343 others(27): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75047062 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01975.hp1 HG02257.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0188 others(9): Show |
12 | 72 | 0.1667 | 8 | c.*63 others(19): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3985 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75094019 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01081.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0033 a0001c0001t0001g0116 a0001c0001t0001g0118 others(26): Show |
29 | 116 | 0.2500 | 8 | c.453 others(25): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75104046 | A | AGTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02615.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0163 others(1): Show |
4 | 230 | 0.0174 | 8 | c.334 others(25): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01081.hp2 HG02074.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017 | a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0132 others(11): Show |
14 | 35 | 0.4000 | 8 | c.334 others(25): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75122861 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01243.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0143 a0001c0001t0001g0217 a0001c0001t0002g0044 others(12): Show |
15 | 24 | 0.6250 | 8 | c.169 others(25): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75136597 | C | CTGGAGGC others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0011a0001c0003t0016 | a0001c0003t0006g0219 a0001c0003t0006g0220 a0001c0003t0006g0221 others(6): Show |
9 | 230 | 0.0391 | 8 | c.168 others(27): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75153756 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00609.hp1 others(49): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0123 others(48): Show |
52 | 75 | 0.6933 | 8 | c.168 others(25): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48243993 | G | GAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03453.hp1 HG03471.hp1 others(1): Show |
a0003a0004a0016 | a0003c0018a0003c0029a0004c0028others(1): Show | a0003c0018t0018a0003c0029t0015a0004c0028t0012others(1): Show | a0003c0018t0018g0132 a0003c0029t0015g0019 a0004c0028t0012g0131 others(1): Show |
4 | 125 | 0.0320 | 8 | c.-19 others(25): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 1/29 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15944717 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 HG02886.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005a0001c0002t0007others(2): Show | a0001c0002t0001g0103 a0001c0002t0005g0117 a0001c0002t0007g0034 others(2): Show |
5 | 107 | 0.0467 | 8 | c.-50 others(19): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4898 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999769 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02602.hp1 HG02735.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0086 a0001c0001t0001g0215 a0001c0001t0003g0030 others(4): Show |
7 | 194 | 0.0361 | 8 | c.49- others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15999809 | C | CTCTCCTC others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01081.hp1 HG01243.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0002t0001g0080 a0001c0002t0001g0137 a0001c0002t0003g0189 others(3): Show |
6 | 86 | 0.0698 | 8 | c.49- others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16004024 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(20): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0002t0001g0012 a0001c0002t0001g0139 a0001c0002t0001g0234 others(20): Show |
23 | 248 | 0.0927 | 8 | c.49- others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16007214 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01981.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0006a0001c0002t0004others(1): Show | a0001c0001t0004g0170 a0001c0001t0004g0240 a0001c0001t0006g0166 others(3): Show |
6 | 152 | 0.0395 | 8 | c.49- others(21): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16010037 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02080.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0011others(5): Show | a0001c0001t0005g0094 a0001c0001t0010g0041 a0001c0001t0011g0097 others(6): Show |
9 | 42 | 0.2143 | 8 | c.351 others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16034023 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01496.hp2 HG01517.hp1 others(11): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0008a0001c0001t0016a0001c0002t0001others(8): Show | a0001c0001t0008g0002 a0001c0001t0016g0018 a0001c0001t0016g0019 others(11): Show |
14 | 59 | 0.2373 | 8 | c.677 others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16039241 | G | GTGTATGT others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02922.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0170 a0001c0001t0004g0240 a0001c0001t0006g0166 others(1): Show |
4 | 229 | 0.0175 | 8 | c.809 others(25): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16040060 | T | TTGTATGT others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02132.hp2 NA18965.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0007others(2): Show | a0001c0001t0001g0138 a0001c0001t0003g0011 a0001c0005t0007g0228 others(2): Show |
5 | 193 | 0.0259 | 8 | c.809 others(25): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16040064 | T | TTGTATGT others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02809.hp1 HG02922.hp2 others(3): Show |
a0001a0008 | a0001c0002a0001c0009a0008c0021 | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(2): Show | a0001c0002t0001g0212 a0001c0002t0001g0221 a0001c0002t0006g0108 others(3): Show |
6 | 105 | 0.0571 | 8 | c.809 others(25): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16124335 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02809.hp1 others(1): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0021 | a0001c0001t0020a0001c0002t0006a0001c0002t0019others(1): Show | a0001c0001t0020g0102 a0001c0002t0006g0183 a0001c0002t0019g0100 others(1): Show |
4 | 150 | 0.0267 | 8 | c.359 others(25): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 24/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16124337 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(120): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(53): Show | a0001c0001t0001g0037 a0001c0001t0001g0069 a0001c0001t0001g0071 others(120): Show |
123 | 240 | 0.5125 | 8 | c.359 others(25): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 24/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16124400 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02735.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0007others(2): Show | a0001c0001t0001g0069 a0001c0001t0004g0118 a0001c0002t0007g0034 others(3): Show |
6 | 125 | 0.0480 | 8 | c.359 others(25): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 24/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16125739 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(179): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(77): Show | a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0037 others(179): Show |
182 | 197 | 0.9239 | 8 | c.371 others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 25/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16132510 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02258.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0004others(4): Show | a0001c0001t0001g0248 a0001c0001t0008g0181 a0001c0002t0004g0207 others(4): Show |
7 | 119 | 0.0588 | 8 | c.396 others(25): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16137666 | C | CCTCTGCC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp2 others(32): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0003a0001c0001t0012a0001c0002t0003others(11): Show | a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0030 others(32): Show |
35 | 248 | 0.1411 | 8 | c.429 others(25): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99795801 | A | AAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(42): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(10): Show | a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0151 others(42): Show |
45 | 47 | 0.9574 | 8 | c.633 others(25): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 6/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99806077 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(67): Show |
a0001a0004a0013others(4): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(13): Show | a0001c0001t0001g0062 a0001c0001t0004g0121 a0001c0002t0002g0034 others(67): Show |
70 | 81 | 0.8642 | 8 | c.153 others(25): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 11/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99839075 | C | CGGGCAGG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp1 others(53): Show |
a0001a0002a0012 | a0001c0001a0001c0030a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0030t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0054 others(51): Show |
56 | 334 | 0.1677 | 8 | c.361 others(27): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50651066 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp1 others(62): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 others(62): Show |
65 | 241 | 0.2697 | 8 | c.46- others(23): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025467 | C | CACACCCA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG01069.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0028 | a0001c0001t0001a0001c0001t0002a0001c0003t0010others(1): Show | a0001c0001t0001g0185 a0001c0001t0002g0170 a0001c0003t0010g0209 others(1): Show |
4 | 30 | 0.1333 | 8 | c.387 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95029988 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(69): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(39): Show | a0001c0001t0001g0055 a0001c0001t0001g0145 a0001c0001t0001g0181 others(69): Show |
72 | 92 | 0.7826 | 8 | c.387 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95029988 | T | TATCTATC others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00738.hp2 others(5): Show |
a0001a0002 | a0001c0010a0001c0014a0001c0065others(2): Show | a0001c0010t0007a0001c0014t0007a0001c0065t0007others(2): Show | a0001c0010t0007g0143 a0001c0010t0007g0165 a0001c0014t0007g0175 others(5): Show |
8 | 28 | 0.2857 | 8 | c.387 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95047476 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01192.hp2 HG01255.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0064 a0001c0001t0001g0082 a0001c0001t0002g0196 others(15): Show |
18 | 70 | 0.2571 | 8 | c.345 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 27/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95054021 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02451.hp2 HG02965.hp1 others(3): Show |
a0001a0002 | a0001c0013a0001c0023a0001c0054others(3): Show | a0001c0013t0004a0001c0023t0003a0001c0054t0003others(3): Show | a0001c0013t0004g0012 a0001c0023t0003g0073 a0001c0054t0003g0131 others(3): Show |
6 | 24 | 0.2500 | 8 | c.336 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 26/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95062486 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(101): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(44): Show | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0064 others(101): Show |
104 | 149 | 0.6980 | 8 | c.336 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 26/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95064260 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG03579.hp2 others(2): Show |
a0001a0002 | a0001c0017a0001c0025a0001c0041others(1): Show | a0001c0017t0006a0001c0025t0009a0001c0041t0009others(1): Show | a0001c0017t0006g0135 a0001c0025t0009g0122 a0001c0041t0009g0127 others(2): Show |
5 | 198 | 0.0253 | 8 | c.321 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 25/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95086087 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00639.hp1 others(30): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0020others(15): Show | a0001c0001t0001g0157 a0001c0001t0001g0192 a0001c0001t0001g0212 others(30): Show |
33 | 74 | 0.4459 | 8 | c.253 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 20/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95095286 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01261.hp1 HG01361.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0002others(6): Show | a0001c0001t0001g0174 a0001c0001t0001g0240 a0001c0002t0001g0108 others(7): Show |
10 | 136 | 0.0735 | 8 | c.253 others(29): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 20/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95109391 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00609.hp1 others(40): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(25): Show | a0001c0001t0001g0082 a0001c0001t0001g0183 a0001c0001t0001g0191 others(40): Show |
43 | 89 | 0.4831 | 8 | c.253 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 20/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95126720 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG02717.hp2 others(7): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0215 a0001c0001t0002g0168 a0001c0002t0001g0160 others(7): Show |
10 | 122 | 0.0820 | 8 | c.245 others(29): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar |