regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB11_chr2_168915781_169036324 | 168975269 | A | ATATT | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02896.hp2 others(5): Show |
a0001a0009 | a0001c0002a0001c0007a0001c0016others(1): Show | a0001c0002t0004a0001c0007t0001a0001c0016t0008others(2): Show | a0001c0002t0004g0134a0001c0002t0004g0187a0001c0002t0004g0192others(5): Show | 8 | 306 | 0.0261 | 4 | c.130 others(23): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975628 | T | TATAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(183): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(33): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(59): Show | a0001c0001t0001g0048a0001c0001t0001g0073a0001c0001t0001g0074others(182): Show | 186 | 306 | 0.6078 | 4 | c.130 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975641 | A | ATATT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(183): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(33): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(59): Show | a0001c0001t0001g0048a0001c0001t0001g0073a0001c0001t0001g0074others(182): Show | 186 | 306 | 0.6078 | 4 | c.130 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 169003323 | C | CGTGT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01255.hp2 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(20): Show | a0001c0001t0001g0239a0001c0001t0001g0241a0001c0001t0001g0242others(55): Show | 58 | 306 | 0.1895 | 4 | c.390 others(21): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 5/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 169016962 | G | GTCTC | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(101): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(32): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(53): Show | a0001c0001t0001g0239a0001c0001t0001g0241a0001c0001t0001g0242others(101): Show | 104 | 306 | 0.3399 | 4 | c.77- others(17): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 169016979 | T | TACAC | intron_variant | MODIFIER | HG00323.hp1 HG01255.hp1 HG01884.hp1 others(29): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0002others(18): Show | a0001c0001t0001g0181a0001c0001t0001g0184a0001c0001t0001g0188others(29): Show | 32 | 306 | 0.1046 | 4 | c.77- others(17): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87516731 | C | CTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp2 others(28): Show |
a0001a0007a0009others(1): Show | a0001c0003a0001c0006a0007c0011others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0006t0001others(3): Show | a0001c0003t0001g0109a0001c0003t0001g0161a0001c0003t0001g0164others(28): Show | 31 | 352 | 0.0881 | 4 | c.292 others(19): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 23/27 | chr7 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87530830 | C | CAAGA | intron_variant | MODIFIER | HG01081.hp1 HG02055.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0065a0001c0001t0004g0049a0001c0001t0004g0182others(3): Show | 6 | 352 | 0.0171 | 4 | c.268 others(21): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87530838 | C | CAAGA | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp2 others(12): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0119a0001c0001t0001g0191a0001c0001t0003g0024others(9): Show | 15 | 352 | 0.0426 | 4 | c.268 others(21): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87530842 | A | AAAGC | intron_variant | MODIFIER | HG01192.hp2 HG01258.hp2 HG01261.hp1 others(12): Show |
a0001a0002a0016others(2): Show | a0001c0006a0002c0002a0002c0009others(4): Show | a0001c0006t0004a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0006t0004g0103a0002c0002t0001g0148a0002c0002t0001g0168others(12): Show | 15 | 352 | 0.0426 | 4 | c.268 others(21): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 21/27 | chr7 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87589805 | G | GGAGA | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0021others(10): Show | a0001c0001t0001g0250a0001c0001t0001g0306a0001c0001t0001g0307others(18): Show | 21 | 352 | 0.0597 | 4 | c.118 others(21): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | ||||||
ABCB4_chr7_87396696_87480680 | 87415348 | T | TAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(194): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0020others(173): Show | 197 | 290 | 0.6793 | 4 | c.268 others(23): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 21/27 | chr7 | TogoVar | ||||||
ABCB4_chr7_87396696_87480680 | 87426944 | A | AGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00597.hp2 others(68): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0192a0001c0001t0001g0195a0001c0001t0001g0197others(61): Show | 71 | 290 | 0.2448 | 4 | c.189 others(19): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 15/27 | chr7 | TogoVar | ||||||
ABCB4_chr7_87396696_87480680 | 87433669 | G | GTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01934.hp2 HG02155.hp2 others(6): Show |
a0002 | a0002c0005a0002c0009a0002c0012 | a0002c0005t0001a0002c0009t0001a0002c0012t0001 | a0002c0005t0001g0042a0002c0005t0001g0051a0002c0005t0001g0052others(6): Show | 9 | 290 | 0.0310 | 4 | c.173 others(23): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 14/27 | chr7 | TogoVar | ||||||
ABCB4_chr7_87396696_87480680 | 87441408 | T | TATAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00735.hp2 others(38): Show |
a0002 | a0002c0004a0002c0005a0002c0009others(5): Show | a0002c0004t0001a0002c0005t0001a0002c0009t0001others(5): Show | a0002c0004t0001g0003a0002c0004t0001g0008a0002c0004t0001g0009others(34): Show | 41 | 290 | 0.1414 | 4 | c.135 others(23): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 12/27 | chr7 | TogoVar | ||||||
ABCB4_chr7_87396696_87480680 | 87451139 | A | ATTTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(101): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0006a0001c0026others(10): Show | a0001c0002t0001a0001c0002t0003a0001c0006t0001others(11): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0010others(85): Show | 104 | 290 | 0.3586 | 4 | c.708 others(19): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 7/27 | chr7 | TogoVar | ||||||
ABCB4_chr7_87396696_87480680 | 87460620 | T | TTTTA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(12): Show |
a0001a0002 | a0001c0007a0002c0005 | a0001c0007t0001a0002c0005t0001 | a0001c0007t0001g0034a0001c0007t0001g0037a0001c0007t0001g0047others(12): Show | 15 | 290 | 0.0517 | 4 | c.286 others(21): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 4/27 | chr7 | TogoVar | ||||||
ABCB4_chr7_87396696_87480680 | 87460622 | G | GTATT | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00738.hp2 others(24): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0001g0179a0001c0001t0001g0194a0001c0001t0001g0211others(23): Show | 27 | 290 | 0.0931 | 4 | c.286 others(21): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 4/27 | chr7 | TogoVar | ||||||
ABCB4_chr7_87396696_87480680 | 87473726 | A | AGTGT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(89): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0003a0001c0007others(6): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(7): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0010others(74): Show | 92 | 290 | 0.3172 | 4 | c.81- others(19): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 2/27 | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20615582 | C | CGTGT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(56): Show |
a0001a0002a0004others(22): Show | a0001c0001a0001c0005a0002c0003others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(35): Show | a0001c0001t0001g0114a0001c0001t0001g0272a0001c0001t0002g0087others(56): Show | 59 | 360 | 0.1639 | 4 | c.-27 others(13): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 84 | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20618764 | C | CTTTT | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01978.hp1 others(10): Show |
a0002a0007a0011others(1): Show | a0002c0003a0002c0012a0002c0014others(4): Show | a0002c0003t0003a0002c0003t0011a0002c0012t0003others(5): Show | a0002c0003t0003g0045a0002c0003t0003g0046a0002c0003t0003g0047others(10): Show | 13 | 360 | 0.0361 | 4 | c.-22 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20626852 | G | GGGGT | intron_variant | MODIFIER | HG02135.hp1 HG02165.hp2 NA18970.hp1 others(1): Show |
a0003a0008a0041 | a0003c0002a0008c0009a0041c0055 | a0003c0002t0001a0008c0009t0001a0041c0055t0001 | a0003c0002t0001g0229a0008c0009t0001g0228a0008c0009t0001g0230others(1): Show | 4 | 360 | 0.0111 | 4 | c.108 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20626854 | G | GGTGT | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00673.hp2 others(22): Show |
a0001a0003a0004others(10): Show | a0001c0001a0003c0002a0004c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(15): Show | a0001c0001t0001g0114a0001c0001t0001g0181a0001c0001t0002g0250others(22): Show | 25 | 360 | 0.0694 | 4 | c.108 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20626856 | T | TGTGC | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02615.hp2 others(7): Show |
a0002a0007a0010others(3): Show | a0002c0012a0002c0041a0007c0011others(7): Show | a0002c0012t0001a0002c0041t0001a0007c0011t0004others(7): Show | a0002c0012t0001g0121a0002c0041t0001g0119a0007c0011t0004g0124others(7): Show | 10 | 360 | 0.0278 | 4 | c.108 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20629037 | A | AAAAT | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01261.hp2 others(2): Show |
a0001a0004a0026 | a0001c0005a0004c0004a0004c0008others(1): Show | a0001c0005t0001a0004c0004t0001a0004c0008t0002others(1): Show | a0001c0005t0001g0285a0001c0005t0001g0311a0004c0004t0001g0337others(2): Show | 5 | 360 | 0.0139 | 4 | c.259 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20629145 | C | CGTGT | intron_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG01175.hp2 others(17): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0012a0003c0002others(9): Show | a0001c0001t0001a0002c0012t0001a0002c0012t0003others(11): Show | a0001c0001t0001g0302a0002c0012t0001g0084a0002c0012t0001g0088others(17): Show | 20 | 360 | 0.0556 | 4 | c.259 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20633014 | T | TAATA | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG03041.hp1 others(1): Show |
a0007a0018a0019others(1): Show | a0007c0016a0018c0072a0019c0071others(1): Show | a0007c0016t0006a0018c0072t0013a0019c0071t0001others(1): Show | a0007c0016t0006g0057a0018c0072t0013g0056a0019c0071t0001g0358others(1): Show | 4 | 360 | 0.0111 | 4 | c.314 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20633072 | C | CAAAT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00597.hp2 others(113): Show |
a0002a0005a0007others(30): Show | a0002c0003a0002c0012a0002c0014others(44): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0009others(60): Show | a0002c0003t0003g0001a0002c0003t0003g0005a0002c0003t0003g0014others(113): Show | 116 | 360 | 0.3222 | 4 | c.314 others(19): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20634238 | T | TTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00609.hp1 others(27): Show |
a0001a0002a0004others(13): Show | a0001c0001a0002c0003a0002c0012others(17): Show | a0001c0001t0001a0002c0003t0003a0002c0012t0001others(20): Show | a0001c0001t0001g0264a0002c0003t0003g0025a0002c0012t0001g0121others(27): Show | 30 | 360 | 0.0833 | 4 | c.314 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20665724 | A | AAGAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0005a0001c0064others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(73): Show | a0001c0001t0001g0114a0001c0001t0001g0181a0001c0001t0001g0182others(115): Show | 118 | 360 | 0.3278 | 4 | c.170 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20665768 | G | GATAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
a0001a0002a0003others(41): Show | a0001c0001a0001c0005a0001c0061others(63): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(83): Show | a0001c0001t0001g0054a0001c0001t0001g0114a0001c0001t0001g0138others(220): Show | 223 | 360 | 0.6194 | 4 | c.170 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20674749 | T | TACAC | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(79): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0005a0002c0003others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(46): Show | a0001c0001t0001g0138a0001c0001t0001g0141a0001c0001t0001g0142others(79): Show | 82 | 360 | 0.2278 | 4 | c.170 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20676161 | T | TACAC | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG03688.hp1 others(4): Show |
a0012a0016a0028others(3): Show | a0012c0013a0016c0021a0028c0034others(3): Show | a0012c0013t0001a0016c0021t0014a0028c0034t0001others(4): Show | a0012c0013t0001g0101a0016c0021t0014g0105a0028c0034t0001g0108others(4): Show | 7 | 360 | 0.0194 | 4 | c.170 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20676167 | T | TACAC | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00738.hp2 others(23): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0002c0012others(13): Show | a0001c0001t0001a0001c0005t0001a0002c0012t0001others(15): Show | a0001c0001t0001g0181a0001c0001t0001g0329a0001c0005t0001g0270others(23): Show | 26 | 360 | 0.0722 | 4 | c.170 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20683558 | T | TTAAG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00738.hp2 others(8): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0004c0004t0001others(3): Show | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0147others(8): Show | 11 | 360 | 0.0306 | 4 | c.186 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20691582 | T | TTTTA | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG02280.hp1 others(5): Show |
a0002a0004a0005others(5): Show | a0002c0003a0004c0004a0005c0015others(5): Show | a0002c0003t0003a0004c0004t0002a0005c0015t0004others(5): Show | a0002c0003t0003g0005a0004c0004t0002g0116a0005c0015t0004g0310others(5): Show | 8 | 360 | 0.0222 | 4 | c.201 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20710381 | A | AAAGG | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp1 others(57): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0002c0003others(22): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(30): Show | a0001c0001t0001g0142a0001c0001t0001g0152a0001c0001t0001g0181others(57): Show | 60 | 360 | 0.1667 | 4 | c.242 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20711778 | C | CTCTT | intron_variant | MODIFIER | HG01106.hp1 HG01258.hp1 HG01358.hp2 others(8): Show |
a0001a0004a0005others(3): Show | a0001c0001a0004c0008a0005c0006others(4): Show | a0001c0001t0002a0004c0008t0001a0005c0006t0001others(5): Show | a0001c0001t0002g0297a0004c0008t0001g0187a0005c0006t0001g0184others(8): Show | 11 | 360 | 0.0306 | 4 | c.242 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20717883 | C | CTTTT | intron_variant | MODIFIER | HG01361.hp2 HG01981.hp1 HG02647.hp1 others(7): Show |
a0001a0005a0006others(5): Show | a0001c0001a0001c0061a0005c0015others(6): Show | a0001c0001t0001a0001c0061t0001a0005c0015t0004others(6): Show | a0001c0001t0001g0265a0001c0001t0001g0302a0001c0061t0001g0278others(7): Show | 10 | 360 | 0.0278 | 4 | c.242 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20724199 | C | CTTAT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(321): Show |
a0001a0002a0003others(62): Show | a0001c0001a0001c0005a0001c0061others(95): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(133): Show | a0001c0001t0001g0054a0001c0001t0001g0114a0001c0001t0001g0138others(321): Show | 324 | 360 | 0.9000 | 4 | c.262 others(22): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20726358 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01175.hp2 others(6): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0003a0004c0004others(5): Show | a0001c0001t0001a0002c0003t0001a0004c0004t0002others(5): Show | a0001c0001t0001g0114a0002c0003t0001g0349a0004c0004t0002g0149others(6): Show | 9 | 360 | 0.0250 | 4 | 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 | 20731369 | A | AAAAT | intron_variant | MODIFIER | HG00408.hp2 HG01106.hp2 HG03490.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0002others(1): Show | a0001c0001t0001a0002c0003t0003a0003c0002t0001others(1): Show | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0263others(11): Show | 14 | 360 | 0.0389 | 4 | c.286 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20731369 | A | AATAT | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp1 others(32): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0003a0002c0012others(13): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0003others(17): Show | a0001c0001t0001g0152a0001c0001t0001g0258a0001c0001t0002g0146others(32): Show | 35 | 360 | 0.0972 | 4 | c.286 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20731385 | T | TACAC | intron_variant | MODIFIER | HG02135.hp2 NA18612.hp2 NA18949.hp2 others(1): Show |
a0009a0013a0046others(1): Show | a0009c0018a0013c0022a0046c0057others(1): Show | a0009c0018t0008a0013c0022t0021a0046c0057t0008others(1): Show | a0009c0018t0008g0171a0013c0022t0021g0202a0046c0057t0008g0237others(1): Show | 4 | 360 | 0.0111 | 4 | c.286 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20749139 | T | TCCTC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(55): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0002c0003others(18): Show | a0001c0001t0002a0001c0005t0002a0002c0003t0007others(21): Show | a0001c0001t0002g0087a0001c0001t0002g0146a0001c0001t0002g0155others(55): Show | 58 | 360 | 0.1611 | 4 | c.342 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20749395 | A | ATTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(77): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0005a0002c0003others(44): Show | a0001c0001t0002a0001c0005t0002a0002c0003t0011others(48): Show | a0001c0001t0002g0146a0001c0001t0002g0155a0001c0001t0002g0250others(77): Show | 80 | 360 | 0.2222 | 4 | c.343 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20750383 | T | TACAC | intron_variant | MODIFIER | HG00621.hp2 HG01361.hp1 HG02145.hp1 others(25): Show |
a0001a0005a0007others(16): Show | a0001c0001a0005c0015a0007c0011others(18): Show | a0001c0001t0001a0005c0015t0004a0007c0011t0004others(20): Show | a0001c0001t0001g0054a0001c0001t0001g0331a0005c0015t0004g0281others(25): Show | 28 | 360 | 0.0778 | 4 | c.343 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20757258 | C | CCCAT | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG02965.hp2 others(1): Show |
a0002a0066 | a0002c0014a0002c0035a0002c0048others(1): Show | a0002c0014t0011a0002c0035t0005a0002c0048t0012others(1): Show | a0002c0014t0011g0007a0002c0035t0005g0091a0002c0048t0012g0060others(1): Show | 4 | 360 | 0.0111 | 4 | c.*16 others(15): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 251 | chr7 | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75047062 | G | GACAC | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00621.hp1 others(89): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0001t0001g0024others(89): Show | 92 | 232 | 0.3966 | 4 | c.*63 others(15): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3985 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75052466 | C | CAAAA | 3_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02630.hp1 HG03225.hp1 |
a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0225a0001c0003t0012g0226a0001c0003t0012g0227 | 3 | 232 | 0.0129 | 4 | c.*90 others(13): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 16/16 | 903 | chrX | TogoVar |