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 | 20720943 | CAA | C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00738.hp1 others(40): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0005a0001c0061others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(27): Show | a0001c0001t0001g0116 a0001c0001t0001g0241 a0001c0001t0001g0296 others(40): Show |
43 | 98 | 0.4388 | -2 | c.242 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20723361 | TAG | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(47): Show |
a0004a0008a0010others(8): Show | a0004c0004a0004c0008a0008c0009others(11): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0024others(20): Show | a0004c0004t0001g0002 a0004c0004t0001g0134 a0004c0004t0001g0135 others(46): Show |
50 | 358 | 0.1397 | -2 | c.262 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20724628 | CAA | C | intron_variant | MODIFIER | HG00738.hp1 HG02615.hp1 HG02717.hp1 others(8): Show |
a0012a0018a0033others(3): Show | a0012c0026a0012c0031a0012c0042others(5): Show | a0012c0026t0004a0012c0026t0006a0012c0031t0004others(7): Show | a0012c0026t0004g0078 a0012c0026t0004g0130 a0012c0026t0006g0072 others(8): Show |
11 | 77 | 0.1429 | -2 | c.262 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20736855 | CCT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp1 others(67): Show |
a0001a0002a0003others(18): Show | a0001c0001a0002c0003a0003c0002others(24): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0003others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0223 a0001c0001t0001g0232 others(66): Show |
70 | 358 | 0.1955 | -2 | c.286 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20748370 | GAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(127): Show |
a0001a0002a0003others(44): Show | a0001c0001a0001c0005a0002c0003others(67): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(83): Show | a0001c0001t0001g0056 a0001c0001t0001g0222 a0001c0001t0002g0069 others(126): Show |
130 | 358 | 0.3631 | -2 | c.342 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20748650 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(182): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0005a0001c0064others(55): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0001others(63): Show | a0001c0001t0001g0001 a0001c0001t0001g0116 a0001c0001t0001g0138 others(181): Show |
185 | 198 | 0.9343 | -2 | c.342 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20750383 | TAC | T | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp2 HG01952.hp1 others(21): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0077a0002c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0077t0001others(18): Show | a0001c0001t0001g0208 a0001c0001t0001g0344 a0001c0001t0002g0217 others(21): Show |
24 | 236 | 0.1017 | -2 | c.343 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20757528 | CTT | C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02135.hp2 others(11): Show |
a0002a0005a0007others(9): Show | a0002c0003a0005c0015a0007c0011others(9): Show | a0002c0003t0009a0005c0015t0004a0007c0011t0004others(9): Show | a0002c0003t0009g0014 a0005c0015t0004g0215 a0007c0011t0004g0060 others(11): Show |
14 | 290 | 0.0483 | -2 | c.*19 others(13): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 521 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20760384 | CAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(93): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0005a0002c0003others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(59): Show | a0001c0001t0001g0232 a0001c0001t0002g0069 a0001c0001t0002g0217 others(93): Show |
96 | 142 | 0.6761 | -2 | c.*47 others(13): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3377 | chr7 | TogoVar | |||||||
ABCB6_chr2_219204772_219223958 | 219207485 | CTG | C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02451.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 3 | 356 | 0.0084 | -2 | c.*24 others(13): Show |
ABCB6 | ENSG00000115657.14 | transcript | ENST00000265316.9 | protein_coding | 2286 | chr2 | TogoVar | |||||||
ABCB6_chr2_219204772_219223958 | 219211621 | CTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG02615.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0002a0001c0002t0008others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0040 others(3): Show |
12 | 29 | 0.4138 | -2 | c.196 others(19): Show |
ABCB6 | ENSG00000115657.14 | transcript | ENST00000265316.9 | protein_coding | 14/18 | chr2 | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75047062 | GAC | G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02723.hp2 NA18747.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0003t0006 | a0001c0001t0001g0032 a0001c0001t0009g0026 a0001c0003t0006g0219 others(1): Show |
4 | 64 | 0.0625 | -2 | c.*63 others(13): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3985 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75068127 | CAT | C | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0219 a0001c0003t0006g0220 a0001c0003t0006g0221 others(2): Show |
5 | 230 | 0.0217 | -2 | c.165 others(19): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 12/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75077916 | CTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0011a0001c0003t0016 | a0001c0003t0006g0219 a0001c0003t0006g0220 a0001c0003t0006g0221 others(6): Show |
9 | 223 | 0.0404 | -2 | c.454 others(19): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75082771 | GAA | G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00609.hp1 others(96): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0024 others(95): Show |
99 | 230 | 0.4304 | -2 | c.454 others(19): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75104047 | GTT | G | intron_variant | MODIFIER | HG01258.hp1 HG01993.hp1 HG02165.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0124 a0001c0001t0002g0071 others(2): Show |
5 | 26 | 0.1923 | -2 | c.334 others(19): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75122861 | GGT | G | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02572.hp1 others(8): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0006a0001c0003t0011a0002c0002t0003 | a0001c0003t0006g0219 a0001c0003t0006g0220 a0001c0003t0006g0221 others(8): Show |
11 | 20 | 0.5500 | -2 | c.169 others(19): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75129606 | AAT | A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 a0001c0001t0002g0045 |
2 | 229 | 0.0087 | -2 | c.169 others(21): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75138223 | TAC | T | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp1 HG02109.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0004g0051 others(6): Show |
9 | 24 | 0.3750 | -2 | c.168 others(21): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75144616 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(209): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0024 others(207): Show |
212 | 229 | 0.9258 | -2 | c.168 others(21): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75156926 | CAG | C | upstream_gene_variant | MODIFIER | HG01258.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0146 |
2 | 221 | 0.0090 | -2 | c.-65 others(11): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 644 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75159770 | ATT | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(104): Show |
a0001a0004a0005 | a0001c0001a0004c0007a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0024 others(103): Show |
107 | 130 | 0.8231 | -2 | c.-35 others(13): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3488 | chrX | TogoVar | |||||||
ABCB8_chr7_151023450_151052782 | 151027682 | ATT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(136): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0002a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(28): Show | a0001c0001t0001g0123 a0001c0001t0004g0030 a0001c0001t0004g0079 others(72): Show |
139 | 356 | 0.3904 | -2 | c.-83 others(11): Show |
ABCB8 | ENSG00000197150.13 | transcript | ENST00000358849.9 | protein_coding | 767 | chr7 | TogoVar | |||||||
ABCB8_chr7_151023450_151052782 | 151032693 | CAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02615.hp1 others(8): Show |
a0001a0006 | a0001c0001a0001c0025a0006c0008 | a0001c0001t0004a0001c0025t0031a0006c0008t0004 | a0001c0001t0004g0030 a0001c0001t0004g0103 a0001c0001t0004g0105 others(4): Show |
11 | 366 | 0.0301 | -2 | c.96- others(15): Show |
ABCB8 | ENSG00000197150.13 | transcript | ENST00000358849.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB9_chr12_122923992_122971463 | 122930412 | CTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02040.hp2 HG02055.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0004g0003 a0001c0001t0004g0009 others(13): Show |
19 | 247 | 0.0769 | -2 | c.204 others(19): Show |
ABCB9 | ENSG00000150967.19 | transcript | ENST00000280560.13 | protein_coding | 11/11 | chr12 | TogoVar | |||||||
ABCB9_chr12_122923992_122971463 | 122930766 | CTT | C | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02622.hp1 others(8): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0038 others(5): Show |
11 | 270 | 0.0407 | -2 | c.204 others(19): Show |
ABCB9 | ENSG00000150967.19 | transcript | ENST00000280560.13 | protein_coding | 11/11 | chr12 | TogoVar | |||||||
ABCB9_chr12_122923992_122971463 | 122968636 | CTT | C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01884.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0131 a0001c0001t0001g0174 others(15): Show |
23 | 101 | 0.2277 | -2 | c.-24 others(13): Show |
ABCB9 | ENSG00000150967.19 | transcript | ENST00000280560.13 | protein_coding | 2174 | chr12 | TogoVar | |||||||
ABCB9_chr12_122923992_122971463 | 122969174 | ACC | A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02055.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007 | a0001c0001t0004g0003 a0001c0001t0004g0009 a0001c0001t0004g0020 others(12): Show |
20 | 41 | 0.4878 | -2 | c.-29 others(13): Show |
ABCB9 | ENSG00000150967.19 | transcript | ENST00000280560.13 | protein_coding | 2712 | chr12 | TogoVar | |||||||
ABCB9_chr12_122923992_122971463 | 122971386 | CAA | C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02055.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007 | a0001c0001t0004g0003 a0001c0001t0004g0009 a0001c0001t0004g0020 others(12): Show |
20 | 223 | 0.0897 | -2 | c.-51 others(13): Show |
ABCB9 | ENSG00000150967.19 | transcript | ENST00000280560.13 | protein_coding | 4924 | chr12 | TogoVar | |||||||
ABCC10_chr6_43422541_43455427 | 43428870 | CTG | C | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01257.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0008 | a0001c0001t0001a0002c0003t0001a0005c0008t0001 | a0001c0001t0001g0021 a0002c0003t0001g0036 a0002c0003t0001g0037 others(3): Show |
8 | 340 | 0.0235 | -2 | c.161 others(17): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABCC10_chr6_43422541_43455427 | 43429372 | TTG | T | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02886.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0004t0002others(1): Show | a0001c0001t0001g0121 a0002c0003t0001g0098 a0002c0003t0001g0099 others(3): Show |
6 | 99 | 0.0606 | -2 | c.161 others(19): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABCC10_chr6_43422541_43455427 | 43437433 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(106): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0016 others(70): Show |
109 | 160 | 0.6813 | -2 | c.187 others(19): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABCC10_chr6_43422541_43455427 | 43440918 | CAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01433.hp1 others(6): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0002c0017others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0017t0001others(1): Show | a0001c0001t0001g0187 a0002c0003t0001g0036 a0002c0003t0001g0037 others(5): Show |
9 | 146 | 0.0616 | -2 | c.212 others(19): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABCC10_chr6_43422541_43455427 | 43454252 | AAG | A | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01517.hp2 HG02523.hp2 |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0020 a0005c0008t0001g0035 |
3 | 340 | 0.0088 | -2 | c.*41 others(13): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 3826 | chr6 | TogoVar | |||||||
ABCC10_chr6_43422541_43455427 | 43455287 | CCG | C | downstream_gene_variant | MODIFIER | HG01257.hp1 HG01496.hp1 HG02135.hp1 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0002c0007others(2): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0005others(3): Show | a0001c0001t0001g0125 a0002c0003t0001g0009 a0002c0003t0001g0019 others(14): Show |
20 | 340 | 0.0588 | -2 | c.*51 others(13): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 4861 | chr6 | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48164744 | TCC | T | downstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01070.hp1 others(24): Show |
a0003a0006a0007others(3): Show | a0003c0023a0006c0011a0006c0012others(5): Show | a0003c0023t0004a0006c0011t0002a0006c0012t0007others(5): Show | a0003c0023t0004g0032 a0006c0011t0002g0005 a0006c0011t0002g0124 others(21): Show |
27 | 156 | 0.1731 | -2 | c.*25 others(13): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 1028 | chr16 | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48173813 | CAG | C | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01175.hp2 others(16): Show |
a0003a0006a0010others(1): Show | a0003c0006a0003c0023a0003c0029others(3): Show | a0003c0006t0004a0003c0023t0004a0003c0029t0015others(3): Show | a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 others(15): Show |
19 | 156 | 0.1218 | -2 | c.369 others(21): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 26/29 | chr16 | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48182440 | ATT | A | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG02723.hp2 others(3): Show |
a0008 | a0008c0008 | a0008c0008t0003 | a0008c0008t0003g0006 a0008c0008t0003g0136 a0008c0008t0003g0137 others(2): Show |
6 | 156 | 0.0385 | -2 | c.325 others(21): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 23/29 | chr16 | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48199672 | ATT | A | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01070.hp2 others(48): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0020others(15): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0013others(16): Show | a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0044 others(48): Show |
51 | 64 | 0.7969 | -2 | c.208 others(19): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 15/29 | chr16 | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48217905 | CAT | C | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG03239.hp2 |
a0004a0018 | a0004c0017a0018c0025 | a0004c0017t0001a0018c0025t0001 | a0004c0017t0001g0029 a0004c0017t0001g0031 a0018c0025t0001g0030 |
3 | 156 | 0.0192 | -2 | c.778 others(19): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 6/29 | chr16 | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48221737 | GGT | G | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp1 HG01109.hp2 others(32): Show |
a0003a0004a0006others(4): Show | a0003c0006a0003c0018a0003c0023others(11): Show | a0003c0006t0004a0003c0018t0018a0003c0023t0004others(12): Show | a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 others(31): Show |
35 | 155 | 0.2258 | -2 | c.777 others(17): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 6/29 | chr16 | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48227475 | CAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02723.hp2 others(6): Show |
a0006a0008 | a0006c0011a0008c0008 | a0006c0011t0002a0008c0008t0003 | a0006c0011t0002g0005 a0006c0011t0002g0124 a0006c0011t0002g0125 others(4): Show |
9 | 105 | 0.0857 | -2 | c.395 others(17): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 4/29 | chr16 | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48231675 | AAG | A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02145.hp2 others(8): Show |
a0004a0006a0015 | a0004c0009a0006c0011a0015c0022 | a0004c0009t0001a0004c0009t0010a0006c0011t0002others(1): Show | a0004c0009t0001g0126 a0004c0009t0001g0128 a0004c0009t0001g0129 others(7): Show |
11 | 156 | 0.0705 | -2 | c.99+ others(15): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 2/29 | chr16 | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48239561 | CAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02965.hp2 HG02970.hp2 others(3): Show |
a0004a0006a0016 | a0004c0027a0006c0012a0016c0026 | a0004c0027t0001a0006c0012t0007a0016c0026t0017 | a0004c0027t0001g0034 a0006c0012t0007g0020 a0006c0012t0007g0021 others(3): Show |
6 | 108 | 0.0556 | -2 | c.-18 others(19): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 1/29 | chr16 | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48245621 | GGA | G | intron_variant | MODIFIER | HG02486.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0005 a0006c0011t0002g0124 a0006c0011t0002g0125 |
4 | 156 | 0.0256 | -2 | c.-19 others(19): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 1/29 | chr16 | TogoVar | |||||||
ABCC12_chr16_48075882_48160993 | 48098090 | GAC | G | intron_variant | MODIFIER | HG00735.hp2 HG01496.hp2 HG02040.hp1 others(21): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0019others(9): Show | a0001c0001t0001g0067 a0001c0001t0001g0096 a0002c0002t0001g0002 others(18): Show |
24 | 92 | 0.2609 | -2 | c.303 others(21): Show |
ABCC12 | ENSG00000140798.17 | transcript | ENST00000311303.8 | protein_coding | 23/30 | chr16 | TogoVar | |||||||
ABCC12_chr16_48075882_48160993 | 48141368 | CAG | C | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp2 HG02622.hp2 others(15): Show |
a0005a0008a0009others(1): Show | a0005c0010a0005c0021a0005c0029others(4): Show | a0005c0010t0002a0005c0021t0002a0005c0029t0018others(6): Show | a0005c0010t0002g0023 a0005c0010t0002g0024 a0005c0010t0002g0027 others(13): Show |
18 | 132 | 0.1364 | -2 | c.276 others(15): Show |
ABCC12 | ENSG00000140798.17 | transcript | ENST00000311303.8 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
ABCC12_chr16_48075882_48160993 | 48143986 | CTT | C | frameshift_variant | HIGH | HG01496.hp2 HG02622.hp2 HG02647.hp1 others(4): Show |
a0005 | a0005c0010a0005c0021a0005c0029others(1): Show | a0005c0010t0002a0005c0021t0002a0005c0029t0018others(1): Show | a0005c0010t0002g0023 a0005c0010t0002g0024 a0005c0010t0002g0027 others(4): Show |
7 | 132 | 0.0530 | -2 | c.197 others(9): Show |
p.Lys others(4): Show |
ABCC12 | ENSG00000140798.17 | transcript | ENST00000311303.8 | protein_coding | 4/31 | 670/7385 | 197/4080 | 66/1359 | chr16 | TogoVar | |||
ABCC12_chr16_48075882_48160993 | 48148237 | CAA | C | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp2 HG02622.hp2 others(15): Show |
a0005a0008a0009others(2): Show | a0005c0010a0005c0021a0005c0029others(4): Show | a0005c0010t0002a0005c0021t0002a0005c0029t0018others(6): Show | a0005c0010t0002g0023 a0005c0010t0002g0024 a0005c0010t0002g0027 others(13): Show |
18 | 105 | 0.1714 | -2 | c.-50 others(19): Show |
ABCC12 | ENSG00000140798.17 | transcript | ENST00000311303.8 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
ABCC12_chr16_48075882_48160993 | 48149244 | CAA | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(12): Show |
a0004a0012a0013others(6): Show | a0004c0013a0012c0016a0013c0017others(6): Show | a0004c0013t0003a0012c0016t0005a0013c0017t0002others(6): Show | a0004c0013t0003g0108 a0004c0013t0003g0114 a0012c0016t0005g0004 others(10): Show |
15 | 119 | 0.1261 | -2 | c.-50 others(19): Show |
ABCC12 | ENSG00000140798.17 | transcript | ENST00000311303.8 | protein_coding | 2/30 | chr16 | TogoVar |