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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC9_chr12_21792389_21946426 | 21845348 | ACT | A | intron_variant | MODIFIER | HG00280.hp1 HG01516.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0097a0001c0001t0001g0103a0001c0001t0022g0018 | 3 | 212 | 0.0142 | -2 | c.309 others(19): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 26/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21866224 | CAT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(67): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0040a0001c0001t0001g0044others(66): Show | 70 | 212 | 0.3302 | -2 | c.219 others(21): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 18/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21884075 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp2 others(40): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0017others(40): Show | 43 | 212 | 0.2028 | -2 | c.191 others(21): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 15/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21901095 | CAG | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(71): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0032others(70): Show | 74 | 212 | 0.3491 | -2 | c.161 others(21): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 12/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21912422 | CAG | C | intron_variant | MODIFIER | HG02559.hp2 HG03041.hp1 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0039a0002c0007t0001g0049 | 2 | 212 | 0.0094 | -2 | c.101 others(19): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 8/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21915215 | TTA | T | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(8): Show | 11 | 212 | 0.0519 | -2 | c.816 others(17): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21915225 | ATG | A | intron_variant | MODIFIER | HG02040.hp2 HG02129.hp1 HG02809.hp1 others(7): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0024a0001c0001t0001g0057a0001c0001t0001g0065others(7): Show | 10 | 212 | 0.0472 | -2 | c.816 others(17): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21918030 | TAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(49): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019others(49): Show | 52 | 212 | 0.2453 | -2 | c.407 others(17): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 5/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21923083 | GAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(132): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(132): Show | 135 | 212 | 0.6368 | -2 | c.406 others(19): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 5/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21932207 | CAA | C | intron_variant | MODIFIER | HG00408.hp1 HG02027.hp2 HG02040.hp2 others(18): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0010a0001c0010t0001 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0009others(18): Show | 21 | 212 | 0.0991 | -2 | c.284 others(19): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 4/39 | chr12 | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153720894 | GAC | G | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 285 | 0.0035 | -2 | c.-43 others(13): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 3961 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153720922 | CCA | C | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 285 | 0.0035 | -2 | c.-43 others(13): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 3933 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153720941 | CCA | C | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 285 | 0.0035 | -2 | c.-43 others(13): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 3914 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153721518 | CAG | C | upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 285 | 0.0035 | -2 | c.-37 others(13): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 3337 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153722981 | CCT | C | upstream_gene_variant | MODIFIER | NA18953.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0059 | 1 | 285 | 0.0035 | -2 | c.-22 others(13): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 1874 | chrX | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153746139 | GAT | G | downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 285 | 0.0035 | -2 | c.*24 others(13): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 1385 | chrX | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39591026 | CAA | C | intron_variant | MODIFIER | HG00733.hp2 HG02129.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0023 | a0001c0001t0009g0013a0001c0001t0023g0080 | 3 | 340 | 0.0088 | -2 | c.164 others(21): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 6/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39596476 | TCC | T | intron_variant | MODIFIER | HG00280.hp1 HG01346.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010a0001c0001t0006g0053 | 3 | 340 | 0.0088 | -2 | c.164 others(21): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 6/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39601388 | AAT | A | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0007a0001c0001t0001g0067a0001c0001t0001g0068others(4): Show | 9 | 340 | 0.0265 | -2 | c.150 others(19): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 5/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39607745 | GTT | G | intron_variant | MODIFIER | HG00733.hp2 HG01515.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0004g0051a0001c0001t0004g0061a0001c0001t0005g0092others(3): Show | 6 | 340 | 0.0177 | -2 | c.112 others(17): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39609089 | CTG | C | intron_variant | MODIFIER | HG00733.hp2 HG02129.hp1 HG03710.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0023 | a0001c0001t0002g0034a0001c0001t0009g0013a0001c0001t0023g0080 | 4 | 340 | 0.0118 | -2 | c.112 others(21): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39621087 | CTT | C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01070.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0002g0034a0001c0001t0004g0078a0001c0001t0004g0079others(10): Show | 18 | 340 | 0.0529 | -2 | c.-14 others(13): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 1285 | chr12 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94415667 | GAC | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(344): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(333): Show | 347 | 362 | 0.9586 | -2 | c.-28 others(13): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 2721 | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94421562 | ATG | A | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014 | a0001c0001t0008g0196a0001c0001t0008g0197a0001c0001t0008g0198others(3): Show | 6 | 362 | 0.0166 | -2 | c.110 others(19): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94426848 | ATT | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(95): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0016others(92): Show | 98 | 362 | 0.2707 | -2 | c.110 others(19): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94438282 | TCA | T | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00609.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002 | a0001c0001t0002g0114a0001c0002t0001g0130a0001c0002t0002g0001others(42): Show | 48 | 362 | 0.1326 | -2 | c.110 others(21): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94438301 | TAC | T | intron_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG01993.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0003g0215others(22): Show | 26 | 362 | 0.0718 | -2 | c.110 others(21): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94456255 | ATT | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0273a0001c0001t0001g0293a0001c0001t0001g0295others(38): Show | 41 | 362 | 0.1133 | -2 | c.111 others(19): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94469491 | GTT | G | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0002t0002 | a0001c0001t0001g0262a0001c0001t0001g0263a0001c0001t0001g0264others(4): Show | 7 | 362 | 0.0193 | -2 | c.335 others(19): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94477227 | CAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0002g0114a0001c0001t0003g0006a0001c0001t0003g0007others(60): Show | 68 | 362 | 0.1879 | -2 | c.628 others(19): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94489576 | CAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(139): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0003g0006a0001c0001t0003g0007a0001c0001t0003g0008others(132): Show | 142 | 362 | 0.3923 | -2 | c.115 others(19): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 13/22 | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94496451 | TTG | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(190): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(186): Show | 193 | 362 | 0.5332 | -2 | c.138 others(21): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94496694 | GTT | G | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01109.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0016a0001c0001t0001g0059a0001c0001t0001g0074others(33): Show | 37 | 362 | 0.1022 | -2 | c.138 others(21): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94505371 | ATT | A | intron_variant | MODIFIER | HG01517.hp1 HG02083.hp2 HG02280.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0027a0001c0001t0001g0032others(12): Show | 15 | 362 | 0.0414 | -2 | c.174 others(21): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94513801 | CAG | C | intron_variant | MODIFIER | HG01928.hp2 HG02615.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0030 | a0001c0001t0005g0226a0001c0001t0005g0227a0001c0001t0005g0268others(1): Show | 4 | 362 | 0.0111 | -2 | c.184 others(21): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD4_chr14_74280269_74307934 | 74282651 | TAA | T | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01884.hp2 others(17): Show |
a0003a0004 | a0003c0003a0004c0005 | a0003c0003t0005a0003c0003t0008a0003c0003t0013others(7): Show | a0003c0003t0005g0020a0003c0003t0005g0131a0003c0003t0005g0132others(12): Show | 20 | 384 | 0.0521 | -2 | c.*38 others(13): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 2617 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74287535 | CAG | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
a0002a0010a0011 | a0002c0002a0002c0012a0010c0014others(1): Show | a0002c0002t0001a0002c0002t0024a0002c0012t0001others(2): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0013others(52): Show | 103 | 384 | 0.2682 | -2 | c.163 others(19): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 17/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74287551 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(117): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0002c0012others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0135a0001c0001t0001g0175a0001c0001t0001g0199others(61): Show | 120 | 384 | 0.3125 | -2 | c.163 others(19): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 17/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74289111 | CAA | C | intron_variant | MODIFIER | HG02135.hp2 HG02451.hp1 HG03139.hp1 others(13): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0005 | a0001c0001t0001g0005a0001c0001t0001g0094a0001c0001t0001g0135others(5): Show | 16 | 384 | 0.0417 | -2 | c.145 others(19): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 14/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74289414 | CCA | C | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01243.hp2 others(24): Show |
a0003a0004a0007 | a0003c0003a0004c0005a0007c0007 | a0003c0003t0005a0003c0003t0008a0003c0003t0009others(11): Show | a0003c0003t0005g0020a0003c0003t0005g0131a0003c0003t0005g0132others(18): Show | 27 | 384 | 0.0703 | -2 | c.145 others(17): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 14/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74300063 | CAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(194): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0008others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0021others(93): Show | 197 | 384 | 0.5130 | -2 | c.157 others(15): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 2/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74303843 | ATT | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01074.hp2 HG01975.hp2 others(23): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0147a0001c0001t0001g0148others(11): Show | 26 | 384 | 0.0677 | -2 | c.-93 others(11): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 910 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306145 | CAT | C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG02083.hp1 others(12): Show |
a0001a0008 | a0001c0001a0008c0018 | a0001c0001t0001a0008c0018t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0012others(7): Show | 15 | 384 | 0.0391 | -2 | c.-32 others(13): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3212 | chr14 | TogoVar | ||||||
ABCE1_chr4_145093311_145134524 | 145103029 | CAG | C | intron_variant | MODIFIER | HG02630.hp2 HG02818.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0125a0001c0004t0004g0130a0001c0004t0004g0131 | 3 | 260 | 0.0115 | -2 | c.-27 others(19): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
ABCE1_chr4_145093311_145134524 | 145112216 | CTT | C | splice_region_variant others(1): Show |
LOW | HG00673.hp1 HG01069.hp2 HG01070.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0014others(35): Show | 73 | 260 | 0.2808 | -2 | c.711 others(13): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABCE1_chr4_145093311_145134524 | 145130892 | TTG | T | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0025 | 7 | 260 | 0.0269 | -2 | c.*33 others(13): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 1369 | chr4 | TogoVar | ||||||
ABCE1_chr4_145093311_145134524 | 145132535 | TAA | T | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01069.hp2 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(40): Show | 75 | 260 | 0.2885 | -2 | c.*49 others(13): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 3012 | chr4 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30569834 | CAG | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG02055.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0161 | 4 | 415 | 0.0096 | -2 | c.-16 others(13): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1607 | chr6 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30575369 | ATT | A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02280.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0100others(5): Show | 12 | 415 | 0.0289 | -2 | c.74- others(17): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABCF1_chr6_30566442_30596522 | 30580328 | CAG | C | intron_variant | MODIFIER | NA18942.hp1 NA18945.hp2 NA18955.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0001g0043others(4): Show | 15 | 415 | 0.0361 | -2 | c.565 others(15): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |