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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA8_chr17_68862289_68960392 | 68922194 | C | CTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG04184.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090a0001c0001t0001g0157a0001c0001t0001g0169others(2): Show | 5 | 274 | 0.0183 | 6 | c.150 others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68935262 | T | TTGTGTG | intron_variant | MODIFIER | HG01167.hp2 HG02165.hp1 HG02698.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0186a0001c0001t0001g0205a0001c0001t0001g0208others(14): Show | 17 | 274 | 0.0620 | 6 | c.466 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68935540 | C | CTATATA | intron_variant | MODIFIER | HG00544.hp1 HG01517.hp2 HG02071.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0077a0001c0001t0001g0078others(16): Show | 19 | 274 | 0.0693 | 6 | c.466 others(23): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68944316 | T | TTATATA | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG01361.hp1 others(15): Show |
a0001a0026 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(3): Show | a0001c0001t0001g0091a0001c0001t0001g0173a0001c0001t0001g0174others(15): Show | 18 | 274 | 0.0657 | 6 | c.-5- others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68944359 | T | TATACAC | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG02486.hp2 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0002t0001g0035others(7): Show | 10 | 274 | 0.0365 | 6 | c.-5- others(21): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68956352 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(120): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0014others(120): Show | 123 | 274 | 0.4489 | 6 | c.-13 others(17): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 961 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68958857 | A | ATAATAT | upstream_gene_variant | MODIFIER | HG01496.hp1 NA18953.hp1 NA18994.hp2 others(2): Show |
a0001a0006 | a0001c0003a0006c0038 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0003t0001g0101a0001c0003t0002g0100a0001c0003t0003g0097others(2): Show | 5 | 274 | 0.0183 | 6 | c.-38 others(17): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3466 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68958865 | A | ATATAAT | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02145.hp2 HG02451.hp2 others(12): Show |
a0004a0005a0009others(2): Show | a0004c0008a0004c0026a0004c0029others(6): Show | a0004c0008t0001a0004c0026t0001a0004c0029t0001others(6): Show | a0004c0008t0001g0104a0004c0008t0001g0110a0004c0008t0001g0115others(12): Show | 15 | 274 | 0.0547 | 6 | c.-38 others(17): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3474 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68958902 | T | TATATAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01346.hp1 HG02145.hp2 others(14): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0050a0004c0008others(8): Show | a0001c0001t0001a0001c0050t0001a0004c0008t0001others(8): Show | a0001c0001t0001g0234a0001c0050t0001g0194a0004c0008t0001g0104others(14): Show | 17 | 274 | 0.0620 | 6 | c.-38 others(17): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3511 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 68989256 | T | TCTCACA | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp1 HG02630.hp2 others(6): Show |
a0003a0020 | a0003c0003a0020c0024 | a0003c0003t0003a0020c0024t0002 | a0003c0003t0003g0033a0003c0003t0003g0034a0003c0003t0003g0035others(6): Show | 9 | 312 | 0.0289 | 6 | c.395 others(23): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 68989256 | T | TCTCTCA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG01192.hp2 others(38): Show |
a0002a0011 | a0002c0002a0002c0004a0002c0026others(1): Show | a0002c0002t0002a0002c0004t0002a0002c0026t0002others(1): Show | a0002c0002t0002g0011a0002c0002t0002g0064a0002c0002t0002g0065others(38): Show | 41 | 312 | 0.1314 | 6 | c.395 others(23): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 30/38 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 69036871 | C | CAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01167.hp2 others(16): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0008a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(5): Show | a0001c0001t0001g0168a0001c0001t0001g0177a0001c0001t0001g0180others(16): Show | 19 | 312 | 0.0609 | 6 | c.801 others(23): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 6/38 | chr17 | TogoVar | ||||||
ABCB10_chr1_229511582_229563707 | 229535038 | T | TAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG01167.hp1 others(18): Show |
a0001a0003a0006 | a0001c0002a0003c0013a0006c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0002t0001g0049a0001c0002t0002g0004a0001c0002t0002g0058others(17): Show | 21 | 284 | 0.0739 | 6 | c.134 others(25): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | ||||||
ABCB10_chr1_229511582_229563707 | 229558810 | T | TGCGCCC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(111): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0012others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0104others(107): Show | 114 | 284 | 0.4014 | 6 | c.-15 others(15): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 104 | chr1 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168942222 | C | CATATTA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(164): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(30): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(50): Show | a0001c0001t0001g0048a0001c0001t0001g0073a0001c0001t0001g0074others(162): Show | 167 | 306 | 0.5458 | 6 | c.261 others(25): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 21/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168950136 | T | TACACAC | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 HG02647.hp1 others(5): Show |
a0001a0002a0003 | a0001c0048a0001c0049a0002c0019others(4): Show | a0001c0048t0007a0001c0049t0006a0002c0019t0006others(4): Show | a0001c0048t0007g0017a0001c0049t0006g0018a0002c0019t0006g0024others(5): Show | 8 | 306 | 0.0261 | 6 | c.234 others(25): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 19/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168973300 | G | GTATATA | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02257.hp1 others(7): Show |
a0003a0015 | a0003c0013a0003c0018a0003c0024others(3): Show | a0003c0013t0001a0003c0018t0011a0003c0018t0036others(4): Show | a0003c0013t0001g0016a0003c0013t0001g0027a0003c0013t0001g0088others(7): Show | 10 | 306 | 0.0327 | 6 | c.143 others(23): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 13/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 169003323 | C | CGTGTGT | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG02523.hp1 others(14): Show |
a0001a0002a0012 | a0001c0002a0001c0005a0001c0006others(5): Show | a0001c0002t0005a0001c0005t0001a0001c0005t0017others(8): Show | a0001c0002t0005g0254a0001c0005t0001g0117a0001c0005t0001g0118others(14): Show | 17 | 306 | 0.0556 | 6 | c.390 others(23): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 5/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 169016979 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp1 HG01515.hp1 HG01515.hp2 others(8): Show |
a0001a0002a0015 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0004others(5): Show | a0001c0001t0001g0146a0001c0001t0001g0209a0001c0001t0010g0137others(8): Show | 11 | 306 | 0.0360 | 6 | c.77- others(19): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87534917 | T | TAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01123.hp2 HG01952.hp1 others(17): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0003a0003c0004others(4): Show | a0001c0001t0006a0001c0001t0008a0001c0003t0001others(9): Show | a0001c0001t0006g0066a0001c0001t0008g0055a0001c0003t0001g0135others(17): Show | 20 | 352 | 0.0568 | 6 | c.248 others(25): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 20/27 | chr7 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87568242 | C | CAATAAT | intron_variant | MODIFIER | HG02258.hp1 HG02723.hp1 HG04199.hp2 |
a0001a0002 | a0001c0001a0001c0018a0002c0010 | a0001c0001t0006a0001c0018t0017a0002c0010t0002 | a0001c0001t0006g0061a0001c0018t0017g0039a0002c0010t0002g0070 | 3 | 352 | 0.0085 | 6 | c.339 others(23): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 5/27 | chr7 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87589805 | G | GGAGAGA | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01106.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(4): Show | a0001c0001t0001g0256a0001c0001t0001g0257a0001c0001t0001g0260others(13): Show | 16 | 352 | 0.0455 | 6 | c.118 others(23): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87589849 | G | GGAGAGA | intron_variant | MODIFIER | HG00738.hp2 HG02257.hp2 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0278others(1): Show | 4 | 352 | 0.0114 | 6 | c.118 others(23): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | ||||||
ABCB4_chr7_87396696_87480680 | 87426944 | A | AGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00735.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0180a0001c0001t0001g0235others(18): Show | 21 | 290 | 0.0724 | 6 | c.189 others(21): Show |
ABCB4 | ENSG00000005471.19 | transcript | ENST00000649586.2 | protein_coding | 15/27 | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20615582 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01169.hp2 others(30): Show |
a0002a0005a0007others(4): Show | a0002c0003a0002c0012a0002c0014others(13): Show | a0002c0003t0003a0002c0003t0009a0002c0012t0003others(15): Show | a0002c0003t0003g0016a0002c0003t0003g0018a0002c0003t0003g0026others(30): Show | 33 | 360 | 0.0917 | 6 | c.-27 others(15): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 84 | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20626854 | G | GGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp2 others(23): Show |
a0001a0002a0004others(12): Show | a0001c0001a0002c0012a0002c0035others(15): Show | a0001c0001t0002a0002c0012t0001a0002c0035t0001others(17): Show | a0001c0001t0002g0087a0002c0012t0001g0084a0002c0012t0001g0088others(23): Show | 26 | 360 | 0.0722 | 6 | c.108 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20629145 | C | CGTGTGT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(87): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0005a0002c0012others(28): Show | a0001c0001t0001a0001c0005t0001a0002c0012t0001others(35): Show | a0001c0001t0001g0152a0001c0001t0001g0181a0001c0001t0001g0257others(87): Show | 90 | 360 | 0.2500 | 6 | c.259 others(21): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20634238 | T | TTGTGTG | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG00738.hp1 others(56): Show |
a0002a0006a0007others(13): Show | a0002c0003a0002c0012a0002c0014others(20): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0009others(29): Show | a0002c0003t0003g0001a0002c0003t0003g0005a0002c0003t0003g0014others(56): Show | 59 | 360 | 0.1639 | 6 | c.314 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20667668 | T | TCTGCCC | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01257.hp2 others(1): Show |
a0029a0030 | a0029c0039a0030c0038 | a0029c0039t0001a0030c0038t0016a0030c0038t0020 | a0029c0039t0001g0351a0029c0039t0001g0353a0030c0038t0016g0352others(1): Show | 4 | 360 | 0.0111 | 6 | c.170 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20674749 | T | TACACAC | intron_variant | MODIFIER | HG02135.hp2 HG02257.hp2 HG02615.hp2 others(14): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0005a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(11): Show | a0001c0001t0001g0054a0001c0001t0001g0181a0001c0001t0002g0301others(14): Show | 17 | 360 | 0.0472 | 6 | c.170 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20675369 | G | GGGTGCA | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp2 others(31): Show |
a0001a0002a0004others(14): Show | a0001c0001a0002c0012a0002c0035others(20): Show | a0001c0001t0001a0002c0012t0001a0002c0035t0005others(21): Show | a0001c0001t0001g0346a0002c0012t0001g0084a0002c0012t0001g0121others(31): Show | 34 | 360 | 0.0944 | 6 | c.170 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20679471 | C | CAAAAAA | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG02886.hp2 others(5): Show |
a0001a0007a0010others(2): Show | a0001c0001a0007c0011a0010c0026others(4): Show | a0001c0001t0001a0007c0011t0004a0010c0026t0006others(4): Show | a0001c0001t0001g0054a0001c0001t0001g0283a0007c0011t0004g0124others(5): Show | 8 | 360 | 0.0222 | 6 | c.170 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20707801 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(41): Show |
a0001a0004a0005others(16): Show | a0001c0001a0001c0005a0001c0061others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(26): Show | a0001c0001t0001g0138a0001c0001t0001g0141a0001c0001t0001g0142others(41): Show | 44 | 360 | 0.1222 | 6 | c.242 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20711776 | T | TTCTCTC | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(133): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0005a0001c0061others(50): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(66): Show | a0001c0001t0001g0138a0001c0001t0001g0141a0001c0001t0001g0142others(133): Show | 136 | 360 | 0.3778 | 6 | c.242 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20711786 | T | TTCTCTC | intron_variant | MODIFIER | HG00438.hp1 HG02523.hp2 HG03195.hp2 others(4): Show |
a0002a0006a0007others(2): Show | a0002c0014a0006c0007a0007c0047others(2): Show | a0002c0014t0001a0002c0014t0003a0006c0007t0001others(3): Show | a0002c0014t0001g0234a0002c0014t0003g0002a0006c0007t0001g0163others(4): Show | 7 | 360 | 0.0194 | 6 | c.242 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20726358 | C | CTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02559.hp2 others(8): Show |
a0001a0002a0003others(6): Show | a0001c0005a0002c0014a0003c0002others(6): Show | a0001c0005t0001a0002c0014t0001a0003c0002t0001others(6): Show | a0001c0005t0001g0260a0002c0014t0001g0234a0002c0014t0001g0235others(8): Show | 11 | 360 | 0.0306 | 6 | c.262 others(23): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20749395 | A | ATTTTTT | intron_variant | MODIFIER | HG02135.hp2 HG02572.hp2 HG02970.hp2 others(3): Show |
a0002a0007a0009others(3): Show | a0002c0003a0007c0070a0009c0018others(3): Show | a0002c0003t0009a0007c0070t0009a0009c0018t0008others(3): Show | a0002c0003t0009g0008a0007c0070t0009g0009a0009c0018t0008g0171others(3): Show | 6 | 360 | 0.0167 | 6 | c.343 others(25): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB7_chrX_75046048_75161283 | 75047062 | G | GACACAC | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00738.hp1 others(18): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(3): Show | a0001c0001t0001g0034a0001c0001t0001g0126a0001c0001t0001g0130others(18): Show | 21 | 232 | 0.0905 | 6 | c.*63 others(17): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3985 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75093762 | T | TTAATAA | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0113 | 1 | 232 | 0.0043 | 6 | c.453 others(23): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75094019 | C | CATATAT | intron_variant | MODIFIER | HG01261.hp1 HG01952.hp1 HG01978.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0029a0001c0001t0001g0041a0001c0001t0001g0118others(27): Show | 30 | 232 | 0.1293 | 6 | c.453 others(23): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0061a0001c0001t0016g0217 | 2 | 232 | 0.0086 | 6 | c.334 others(23): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75115266 | C | CAAAAAA | intron_variant | MODIFIER | HG02109.hp2 HG03453.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0049a0001c0001t0004g0050a0001c0001t0024g0116 | 3 | 232 | 0.0129 | 6 | c.169 others(21): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75122859 | G | GGTGTGT | intron_variant | MODIFIER | HG02145.hp1 HG03195.hp2 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0017a0005c0008t0017 | a0001c0001t0017g0086a0005c0008t0017g0085 | 2 | 232 | 0.0086 | 6 | c.169 others(23): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75122861 | G | GGTGTGT | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00735.hp1 others(50): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0002g0045a0001c0001t0002g0047a0001c0001t0002g0051others(50): Show | 53 | 232 | 0.2285 | 6 | c.169 others(23): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75138223 | T | TACACAC | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0221a0001c0003t0006g0222a0001c0003t0006g0223others(1): Show | 4 | 232 | 0.0172 | 6 | c.168 others(25): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75153756 | G | GTATATA | intron_variant | MODIFIER | HG02055.hp1 HG02896.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0120a0001c0001t0001g0123a0001c0001t0002g0047others(3): Show | 6 | 232 | 0.0259 | 6 | c.168 others(23): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75153758 | G | GTATATA | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0227 | 1 | 232 | 0.0043 | 6 | c.168 others(23): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75156899 | T | TCACACA | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01981.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0088a0001c0001t0002g0095a0001c0001t0016g0216 | 3 | 232 | 0.0129 | 6 | c.-63 others(15): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 617 | chrX | TogoVar | ||||||
ABCC10_chr6_43422541_43455427 | 43437433 | C | CAAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0029a0001c0001t0001g0141a0001c0001t0001g0143others(5): Show | 9 | 342 | 0.0263 | 6 | c.187 others(23): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABCC11_chr16_48160773_48252539 | 48169966 | T | TTGTTGC | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01070.hp1 others(43): Show |
a0003a0006a0007others(7): Show | a0003c0006a0003c0018a0003c0023others(11): Show | a0003c0006t0004a0003c0018t0002a0003c0018t0018others(13): Show | a0003c0006t0004g0011a0003c0006t0004g0012a0003c0006t0004g0013others(38): Show | 46 | 158 | 0.2911 | 6 | c.389 others(23): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 28/29 | chr16 | TogoVar |