| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CYP46A1_chr14_99679298_99732301 | 99691323 | T | TGGGGGGG others(6): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0184 | 1 | 374 | 0.0027 | 13 | c.200 others(28): Show |
CYP46A1 | ENSG00000036530.9 | transcript | ENST00000261835.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| CYP46A1_chr14_99679298_99732301 | 99719378 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 374 | 0.0027 | 13 | c.980 others(30): Show |
CYP46A1 | ENSG00000036530.9 | transcript | ENST00000261835.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| CYP4F11_chr19_15907377_15939529 | 15923280 | T | TCTCTCTC others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 |
a0001a0003 | a0001c0008a0003c0016 | a0001c0008t0041a0003c0016t0025 | a0001c0008t0041g0372a0003c0016t0025g0074 | 2 | 386 | 0.0052 | 13 | c.918 others(28): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 6/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15926850 | C | CTCTTCTG others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
a0001a0002a0005others(4): Show | a0001c0005a0001c0011a0002c0001others(9): Show | a0001c0005t0007a0001c0005t0103a0001c0005t0104others(97): Show | a0001c0005t0007g0062a0001c0005t0007g0063a0001c0005t0007g0064others(161): Show | 165 | 386 | 0.4275 | 13 | c.525 others(28): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 4/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15932577 | T | TGAGCGAG others(6): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0001 | a0002c0001t0184 | a0002c0001t0184g0361 | 1 | 386 | 0.0026 | 13 | c.198 others(30): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F12_chr19_15668087_15702174 | 15678425 | G | GCAAGATG others(6): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0204 | 1 | 410 | 0.0024 | 13 | c.343 others(26): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 3/12 | chr19 | TogoVar | ||||||
| CYP4F22_chr19_15503525_15557317 | 15509889 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01081.hp2 HG01175.hp1 others(10): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0245a0001c0001t0001g0253a0001c0001t0002g0244others(10): Show | 13 | 384 | 0.0339 | 13 | c.-10 others(32): Show |
CYP4F22 | ENSG00000171954.13 | transcript | ENST00000269703.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CYP4F22_chr19_15503525_15557317 | 15509893 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00738.hp2 others(23): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0193others(23): Show | 26 | 384 | 0.0677 | 13 | c.-10 others(32): Show |
CYP4F22 | ENSG00000171954.13 | transcript | ENST00000269703.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CYP4F22_chr19_15503525_15557317 | 15510966 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0015 | 1 | 384 | 0.0026 | 13 | c.-10 others(32): Show |
CYP4F22 | ENSG00000171954.13 | transcript | ENST00000269703.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CYP4F22_chr19_15503525_15557317 | 15545648 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02922.hp1 HG02976.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0006 | a0001c0001t0001a0002c0003t0003a0005c0006t0005 | a0001c0001t0001g0372a0002c0003t0003g0004a0005c0006t0005g0009 | 4 | 384 | 0.0104 | 13 | c.113 others(32): Show |
CYP4F22 | ENSG00000171954.13 | transcript | ENST00000269703.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CYP4F22_chr19_15503525_15557317 | 15547018 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00735.hp1 HG01123.hp2 others(11): Show |
a0001a0004a0011 | a0001c0001a0004c0007a0011c0014 | a0001c0001t0002a0004c0007t0002a0011c0014t0011 | a0001c0001t0002g0038a0001c0001t0002g0041a0001c0001t0002g0049others(11): Show | 14 | 384 | 0.0365 | 13 | c.113 others(32): Show |
CYP4F22 | ENSG00000171954.13 | transcript | ENST00000269703.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CYP4F3_chr19_15635897_15667825 | 15650783 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0011 | a0011c0016 | a0011c0016t0043 | a0011c0016t0043g0052 | 1 | 424 | 0.0024 | 13 | c.918 others(28): Show |
CYP4F3 | ENSG00000186529.16 | transcript | ENST00000221307.13 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CYP4F3_chr19_15635897_15667825 | 15656524 | T | TCTATCTA others(6): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG02273.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0040a0001c0004t0005a0001c0004t0007others(4): Show | a0001c0001t0040g0230a0001c0004t0005g0046a0001c0004t0005g0047others(10): Show | 13 | 424 | 0.0307 | 13 | c.111 others(32): Show |
CYP4F3 | ENSG00000186529.16 | transcript | ENST00000221307.13 | protein_coding | 9/12 | chr19 | TogoVar | ||||||
| CYP4F3_chr19_15635897_15667825 | 15662272 | C | CAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG01175.hp2 HG03486.hp1 HG03669.hp1 others(9): Show |
a0001 | a0001c0004 | a0001c0004t0007a0001c0004t0081 | a0001c0004t0007g0045a0001c0004t0007g0048a0001c0004t0007g0050others(9): Show | 12 | 424 | 0.0283 | 13 | c.*28 others(24): Show |
CYP4F3 | ENSG00000186529.16 | transcript | ENST00000221307.13 | protein_coding | 13/13 | 2908 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| CYP4F3_chr19_15635897_15667825 | 15667541 | A | ATATCTAT others(6): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG02055.hp1 HG02451.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(10): Show | a0001c0001t0002g0237a0001c0001t0002g0259a0001c0001t0002g0260others(17): Show | 20 | 424 | 0.0472 | 13 | c.*81 others(24): Show |
CYP4F3 | ENSG00000186529.16 | transcript | ENST00000221307.13 | protein_coding | 4717 | chr19 | TogoVar | ||||||
| CYP4Z1_chr1_47062231_47123318 | 47122517 | T | TTTAATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 318 | 0.0031 | 13 | c.*45 others(24): Show |
CYP4Z1 | ENSG00000186160.5 | transcript | ENST00000334194.4 | protein_coding | 4200 | chr1 | TogoVar | ||||||
| CYRIA_chr2_16544459_16670834 | 16642625 | T | TCAGACTC others(6): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02257.hp2 HG02486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0189a0001c0001t0001g0279a0001c0001t0003g0134others(5): Show | 8 | 290 | 0.0276 | 13 | c.-16 others(34): Show |
CYRIA | ENSG00000197872.11 | transcript | ENST00000381323.7 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
| CYRIB_chr8_129834593_130021560 | 129877663 | G | GTGTGTGT others(6): Show |
intron_variant | MODIFIER | HG03139.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0253a0001c0001t0020g0275 | 2 | 288 | 0.0069 | 13 | c.73+ others(28): Show |
CYRIB | ENSG00000153310.22 | transcript | ENST00000694912.1 | protein_coding | 5/13 | chr8 | TogoVar | ||||||
| CYRIB_chr8_129834593_130021560 | 129883112 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 288 | 0.0035 | 13 | c.-10 others(30): Show |
CYRIB | ENSG00000153310.22 | transcript | ENST00000694912.1 | protein_coding | 4/13 | chr8 | TogoVar | ||||||
| CYSLTR2_chr13_48648929_48716226 | 48695068 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0156 | 1 | 318 | 0.0031 | 13 | c.-10 others(32): Show |
CYSLTR2 | ENSG00000152207.8 | transcript | ENST00000682523.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CYSTM1_chr5_140170188_140248789 | 140177068 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100a0001c0001t0003g0101 | 2 | 324 | 0.0062 | 13 | c.-21 others(30): Show |
CYSTM1 | ENSG00000120306.11 | transcript | ENST00000261811.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CYSTM1_chr5_140170188_140248789 | 140177078 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0007others(61): Show | 69 | 324 | 0.2130 | 13 | c.-21 others(30): Show |
CYSTM1 | ENSG00000120306.11 | transcript | ENST00000261811.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CYSTM1_chr5_140170188_140248789 | 140177078 | A | AAAAACAA others(6): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 324 | 0.0031 | 13 | c.-21 others(30): Show |
CYSTM1 | ENSG00000120306.11 | transcript | ENST00000261811.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CYSTM1_chr5_140170188_140248789 | 140226617 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 324 | 0.0031 | 13 | c.188 others(32): Show |
CYSTM1 | ENSG00000120306.11 | transcript | ENST00000261811.6 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
| CYTH1_chr17_78669048_78787273 | 78690393 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0265a0001c0001t0003g0068a0001c0001t0003g0069others(4): Show | 7 | 378 | 0.0185 | 13 | c.891 others(30): Show |
CYTH1 | ENSG00000108669.18 | transcript | ENST00000446868.8 | protein_coding | 11/13 | chr17 | TogoVar | ||||||
| CYTH3_chr7_6156779_6277624 | 6259794 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0174 | 1 | 348 | 0.0029 | 13 | c.34+ others(30): Show |
CYTH3 | ENSG00000008256.17 | transcript | ENST00000350796.8 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
| CYTL1_chr4_5009586_5024458 | 5023032 | T | TGTGTGTG others(6): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 446 | 0.0045 | 13 | c.-35 others(24): Show |
CYTL1 | ENSG00000170891.11 | transcript | ENST00000307746.9 | protein_coding | 3575 | chr4 | TogoVar | ||||||
| DAAM1_chr14_59183667_59376403 | 59327402 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01952.hp1 HG02165.hp1 others(5): Show |
a0001a0005 | a0001c0003a0001c0004a0005c0011 | a0001c0003t0002a0001c0003t0006a0001c0003t0056others(2): Show | a0001c0003t0002g0060a0001c0003t0002g0063a0001c0003t0002g0097others(5): Show | 8 | 298 | 0.0269 | 13 | c.137 others(30): Show |
DAAM1 | ENSG00000100592.16 | transcript | ENST00000360909.8 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| DAAM2_chr6_39787376_39909869 | 39787715 | T | TGATTGCC others(6): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 | a0009 | a0009c0041 | a0009c0041t0014 | a0009c0041t0014g0147 | 1 | 300 | 0.0033 | 13 | c.-48 others(24): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 4660 | chr6 | TogoVar | ||||||
| DAAM2_chr6_39787376_39909869 | 39789919 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01358.hp1 HG01952.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0025 | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(1): Show | a0001c0001t0001g0127a0001c0001t0001g0137a0001c0001t0008g0149others(3): Show | 6 | 300 | 0.0200 | 13 | c.-26 others(24): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 2456 | chr6 | TogoVar | ||||||
| DAAM2_chr6_39787376_39909869 | 39828570 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03927.hp2 NA18522.hp2 others(4): Show |
a0001a0002a0015 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0003others(3): Show | a0001c0001t0001g0281a0001c0002t0002g0184a0001c0002t0002g0202others(4): Show | 7 | 300 | 0.0233 | 13 | c.-56 others(32): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DAB1_chr1_56989778_57429060 | 57049450 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 138 | 0.0073 | 13 | c.723 others(32): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 9/14 | chr1 | TogoVar | ||||||
| DAB1_chr1_56989778_57429060 | 57206968 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0086 | 1 | 138 | 0.0073 | 13 | c.68- others(30): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 2/14 | chr1 | TogoVar | ||||||
| DAB1_chr1_56989778_57429060 | 57207446 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 138 | 0.0073 | 13 | c.68- others(30): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 2/14 | chr1 | TogoVar | ||||||
| DAB1_chr1_56989778_57429060 | 57218515 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02602.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0128a0001c0005t0001g0082 | 2 | 138 | 0.0145 | 13 | c.67+ others(30): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 2/14 | chr1 | TogoVar | ||||||
| DAB1_chr1_56989778_57429060 | 57238894 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107 | 1 | 138 | 0.0073 | 13 | c.67+ others(30): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 2/14 | chr1 | TogoVar | ||||||
| DAB1_chr1_56989778_57429060 | 57421904 | G | GGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG03139.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0003 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0003g0016others(1): Show | 4 | 138 | 0.0290 | 13 | c.-13 others(32): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
| DAB1_chr1_56989778_57429060 | 57421917 | C | CGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02109.hp2 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0008a0001c0001t0002g0012a0001c0001t0005g0009others(3): Show | 6 | 138 | 0.0435 | 13 | c.-13 others(32): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
| DACH1_chr13_71432966_71872204 | 71693296 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0003 | a0003c0003t0013 | a0003c0003t0013g0006 | 1 | 102 | 0.0098 | 13 | c.849 others(32): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
| DACH1_chr13_71432966_71872204 | 71735276 | A | ATATGGGA others(6): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02004.hp1 HG02572.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0045a0001c0001t0003g0010others(7): Show | 10 | 102 | 0.0980 | 13 | c.849 others(32): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
| DACH1_chr13_71432966_71872204 | 71735277 | T | TATGGGAT others(6): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 102 | 0.0098 | 13 | c.849 others(32): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
| DACH2_chrX_86143451_86837602 | 86667545 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG04228.hp1 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035a0001c0001t0002g0144 | 2 | 166 | 0.0121 | 13 | c.772 others(32): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DACH2_chrX_86143451_86837602 | 86698519 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02965.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042a0001c0001t0002g0161 | 2 | 166 | 0.0121 | 13 | c.931 others(30): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DACH2_chrX_86143451_86837602 | 86698521 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01099.hp1 HG02129.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0047a0001c0001t0001g0074others(4): Show | 7 | 166 | 0.0422 | 13 | c.931 others(30): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DACH2_chrX_86143451_86837602 | 86698537 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 166 | 0.0060 | 13 | c.931 others(30): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DACT1_chr14_58632962_58653321 | 58652810 | C | CTTCCTTC others(6): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02965.hp2 |
a0001 | a0001c0011 | a0001c0011t0008 | a0001c0011t0008g0014 | 2 | 388 | 0.0052 | 13 | c.*56 others(24): Show |
DACT1 | ENSG00000165617.16 | transcript | ENST00000395153.8 | protein_coding | 4490 | chr14 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168320161 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG04199.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0006 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0028others(5): Show | 10 | 476 | 0.0210 | 13 | c.-52 others(22): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 385 | chr6 | TogoVar | ||||||
| DAG1_chr3_49465267_49540615 | 49528275 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02965.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093a0001c0002t0002g0094 | 2 | 238 | 0.0084 | 13 | c.286 others(30): Show |
DAG1 | ENSG00000173402.13 | transcript | ENST00000308775.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DAGLB_chr7_6404129_6452954 | 6407147 | A | AAAATTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG02015.hp1 others(16): Show |
a0001a0004 | a0001c0002a0001c0015a0001c0017others(1): Show | a0001c0002t0002a0001c0015t0002a0001c0017t0002others(1): Show | a0001c0002t0002g0090a0001c0002t0002g0091a0001c0002t0002g0093others(16): Show | 19 | 380 | 0.0500 | 13 | c.*26 others(24): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 1981 | chr7 | TogoVar | ||||||
| DAGLB_chr7_6404129_6452954 | 6407147 | A | AAATTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0359 | 1 | 380 | 0.0026 | 13 | c.*26 others(24): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 1981 | chr7 | TogoVar |