view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYNC1I2_chr2_171682469_171755158 | 171708063 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 HG01934.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0046a0001c0001t0001g0066others(8): Show | 11 | 334 | 0.0329 | 8 | c.335 others(23): Show |
DYNC1I2 | ENSG00000077380.16 | transcript | ENST00000397119.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYNC1I2_chr2_171682469_171755158 | 171710122 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18522.hp2 NA18941.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0174a0001c0001t0003g0135a0001c0001t0003g0171others(4): Show | 7 | 334 | 0.0210 | 8 | c.336 others(25): Show |
DYNC1I2 | ENSG00000077380.16 | transcript | ENST00000397119.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYNC1I2_chr2_171682469_171755158 | 171747207 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18950.hp1 NA18950.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0249a0001c0001t0003g0171a0001c0001t0003g0182others(2): Show | 5 | 334 | 0.0150 | 8 | c.180 others(25): Show |
DYNC1I2 | ENSG00000077380.16 | transcript | ENST00000397119.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYNC1LI1_chr3_32520974_32575858 | 32526653 | C | CCACACAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG02622.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0013 | a0001c0001t0010g0048a0001c0001t0010g0049a0001c0001t0010g0050others(3): Show | 6 | 336 | 0.0179 | 8 | c.*13 others(17): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 13/13 | 145 | chr3 | TogoVar | ||||||
DYNC1LI1_chr3_32520974_32575858 | 32532487 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG00738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0274a0001c0001t0002g0275 | 4 | 336 | 0.0119 | 8 | c.108 others(25): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 8/12 | chr3 | TogoVar | |||||||
DYNC2H1_chr11_103104426_103484863 | 103233830 | A | ATATGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG04199.hp2 NA18951.hp2 others(2): Show |
a0004a0007a0015others(1): Show | a0004c0004a0007c0013a0015c0031others(1): Show | a0004c0004t0001a0007c0013t0001a0015c0031t0001others(1): Show | a0004c0004t0001g0084a0004c0004t0001g0086a0007c0013t0001g0089others(2): Show | 5 | 262 | 0.0191 | 8 | c.944 others(25): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 60/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103276188 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG01071.hp2 others(50): Show |
a0002a0004a0006others(14): Show | a0002c0007a0002c0022a0002c0027others(18): Show | a0002c0007t0001a0002c0022t0001a0002c0027t0001others(18): Show | a0002c0007t0001g0070a0002c0007t0001g0071a0002c0022t0001g0043others(50): Show | 53 | 262 | 0.2023 | 8 | c.106 others(29): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 70/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103309168 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03669.hp1 NA18941.hp1 others(5): Show |
a0001a0011 | a0001c0001a0011c0035 | a0001c0001t0001a0011c0035t0001 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0109others(5): Show | 8 | 262 | 0.0305 | 8 | c.114 others(29): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 78/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103386450 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(59): Show |
a0001a0002a0006others(8): Show | a0001c0001a0001c0006a0001c0010others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(19): Show | a0001c0001t0001g0101a0001c0001t0001g0108a0001c0001t0001g0122others(59): Show | 62 | 262 | 0.2366 | 8 | c.121 others(31): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 83/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103395492 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02965.hp1 others(2): Show |
a0002a0011a0012 | a0002c0046a0011c0065a0012c0015 | a0002c0046t0002a0011c0065t0002a0012c0015t0002 | a0002c0046t0002g0217a0011c0065t0002g0203a0012c0015t0002g0225others(2): Show | 5 | 262 | 0.0191 | 8 | c.121 others(29): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 83/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103457569 | A | AAAATAAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(76): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0006others(21): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(22): Show | a0001c0001t0001g0101a0001c0001t0001g0106a0001c0001t0001g0107others(76): Show | 79 | 262 | 0.3015 | 8 | c.126 others(29): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 87/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103457572 | A | ATAATGAA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01167.hp1 HG01256.hp1 others(30): Show |
a0001a0002a0008others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(14): Show | a0001c0001t0001g0196a0001c0001t0001g0237a0001c0001t0001g0240others(30): Show | 33 | 262 | 0.1260 | 8 | c.126 others(29): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 87/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103483022 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02895.hp2 HG02897.hp2 others(3): Show |
a0001a0004a0006others(1): Show | a0001c0006a0004c0004a0006c0012others(1): Show | a0001c0006t0001a0004c0004t0001a0006c0012t0001others(1): Show | a0001c0006t0001g0053a0004c0004t0001g0088a0006c0012t0001g0210others(3): Show | 6 | 262 | 0.0229 | 8 | c.*37 others(19): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 3160 | chr11 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158870516 | C | CTAATTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp2 others(88): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0012a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(6): Show | a0001c0001t0002g0105a0001c0001t0002g0106a0001c0001t0002g0107others(88): Show | 91 | 274 | 0.3321 | 8 | c.70- others(21): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I2_chr9_128628653_128661847 | 128640012 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01167.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0024a0001c0001t0001g0131a0001c0001t0001g0134others(28): Show | 33 | 368 | 0.0897 | 8 | c.435 others(23): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 2/8 | chr9 | TogoVar | |||||||
DYNC2I2_chr9_128628653_128661847 | 128649688 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00609.hp1 others(28): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0002t0001g0029a0001c0002t0001g0215a0001c0002t0001g0217others(27): Show | 31 | 368 | 0.0842 | 8 | c.186 others(25): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
DYNLL2_chr17_58078419_58100542 | 58083458 | A | AGCGGGCG others(1): Show |
5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01256.hp2 HG01361.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0043a0001c0001t0044 | a0001c0001t0006g0001a0001c0001t0006g0009a0001c0001t0043g0001others(1): Show | 8 | 306 | 0.0261 | 8 | c.-22 others(17): Show |
DYNLL2 | ENSG00000264364.3 | transcript | ENST00000579991.3 | protein_coding | 1/3 | 3612 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DYNLT1_chr6_158631474_158649743 | 158636051 | G | GTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG03139.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0027a0001c0002t0001g0015 | 3 | 396 | 0.0076 | 8 | c.*77 others(17): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 422 | chr6 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196311661 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0147 | 3 | 330 | 0.0091 | 8 | c.247 others(25): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196316890 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0033a0001c0001t0001g0146others(1): Show | 8 | 330 | 0.0242 | 8 | c.114 others(23): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
DYNLT3_chrX_37833836_37852571 | 37834543 | C | CTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013a0001c0001t0002g0025 | 2 | 324 | 0.0062 | 8 | c.*60 others(19): Show |
DYNLT3 | ENSG00000165169.11 | transcript | ENST00000378578.9 | protein_coding | 4292 | chrX | TogoVar | |||||||
DYNLT5_chr1_66747459_66784047 | 66750003 | C | CTCTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(106): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(10): Show | a0001c0001t0001g0019a0001c0001t0001g0039a0001c0001t0001g0042others(51): Show | 109 | 402 | 0.2711 | 8 | c.-25 others(19): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 2455 | chr1 | TogoVar | |||||||
DYRK1A_chr21_37361773_37531358 | 37383837 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(96): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0002g0111a0001c0001t0002g0113a0001c0001t0002g0117others(94): Show | 99 | 350 | 0.2829 | 8 | c.-77 others(27): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37406741 | A | ATATATCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(101): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(206): Show | 210 | 350 | 0.6000 | 8 | c.-76 others(27): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37417529 | C | CTTTTTCT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00673.hp2 HG01106.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0025a0001c0001t0031others(8): Show | a0001c0001t0006g0004a0001c0001t0025g0042a0001c0001t0025g0344others(10): Show | 13 | 350 | 0.0371 | 8 | c.-76 others(25): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37451358 | A | ATCCCTCC others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00609.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015a0001c0001t0022others(10): Show | a0001c0001t0007g0135a0001c0001t0007g0137a0001c0001t0007g0139others(20): Show | 23 | 350 | 0.0657 | 8 | c.11- others(25): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37454085 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01169.hp2 HG01515.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(7): Show | a0001c0001t0002g0122a0001c0001t0002g0126a0001c0001t0002g0128others(16): Show | 19 | 350 | 0.0543 | 8 | c.11- others(25): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37457013 | T | TTTACTTA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00741.hp1 HG01255.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0106a0001c0001t0002g0111a0001c0001t0002g0118others(37): Show | 40 | 350 | 0.1143 | 8 | c.11- others(25): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37457037 | C | CTTACTTA others(1): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0129 | a0001c0001t0041g0299a0001c0001t0041g0300a0001c0001t0129g0238 | 3 | 350 | 0.0086 | 8 | c.11- others(25): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37457037 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18989.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0120a0001c0001t0009g0275a0001c0001t0009g0276 | 3 | 350 | 0.0086 | 8 | c.11- others(25): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37458268 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00609.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0017a0001c0001t0001g0053a0001c0001t0001g0054others(53): Show | 58 | 350 | 0.1657 | 8 | c.11- others(25): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37463203 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01891.hp2 HG01993.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013a0001c0001t0023others(7): Show | a0001c0001t0006g0027a0001c0001t0013g0253a0001c0001t0023g0015others(7): Show | 10 | 350 | 0.0286 | 8 | c.11- others(23): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37479606 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02015.hp2 HG02135.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0057others(6): Show | 9 | 350 | 0.0257 | 8 | c.301 others(25): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37479612 | G | GTTTTTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0111a0001c0001t0002g0117a0001c0001t0002g0118others(47): Show | 52 | 350 | 0.1486 | 8 | c.301 others(25): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37479616 | T | TTGTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01256.hp1 HG01258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(5): Show | a0001c0001t0002g0187a0001c0001t0004g0221a0001c0001t0012g0115others(7): Show | 11 | 350 | 0.0314 | 8 | c.301 others(25): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37503078 | G | GTTTGACT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(127): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0002g0106a0001c0001t0002g0111a0001c0001t0002g0113others(124): Show | 130 | 350 | 0.3714 | 8 | c.121 others(27): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37529463 | T | TGGAGGGA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0020a0001c0001t0039others(2): Show | a0001c0001t0011g0337a0001c0001t0011g0338a0001c0001t0011g0341others(6): Show | 9 | 350 | 0.0257 | 8 | c.*16 others(21): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 3106 | chr21 | TogoVar | |||||||
DYRK3_chr1_206630536_206660158 | 206659808 | G | GCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG01346.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0054a0001c0001t0002g0093others(2): Show | 6 | 396 | 0.0152 | 8 | c.*10 others(21): Show |
DYRK3 | ENSG00000143479.18 | transcript | ENST00000367109.8 | protein_coding | 4651 | chr1 | TogoVar | |||||||
DYRK3_chr1_206630536_206660158 | 206659808 | G | GCGCACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG03927.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0146a0001c0001t0004g0008a0001c0001t0004g0099others(1): Show | 4 | 396 | 0.0101 | 8 | c.*10 others(21): Show |
DYRK3 | ENSG00000143479.18 | transcript | ENST00000367109.8 | protein_coding | 4651 | chr1 | TogoVar | |||||||
DYRK3_chr1_206630536_206660158 | 206659808 | G | GCGCGCAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01256.hp2 HG01993.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(13): Show | 17 | 396 | 0.0429 | 8 | c.*10 others(21): Show |
DYRK3 | ENSG00000143479.18 | transcript | ENST00000367109.8 | protein_coding | 4651 | chr1 | TogoVar | |||||||
DYRK4_chr12_4557208_4618875 | 4561447 | C | CTTTTTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02630.hp2 HG02683.hp1 others(7): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0024a0001c0001t0001g0252a0001c0003t0001g0253others(7): Show | 10 | 414 | 0.0242 | 8 | c.-79 others(17): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 760 | chr12 | TogoVar | |||||||
DYRK4_chr12_4557208_4618875 | 4578308 | T | TTGTCTCT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01167.hp1 others(62): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(16): Show | a0001c0001t0001g0024a0001c0001t0001g0240a0001c0001t0001g0243others(61): Show | 65 | 414 | 0.1570 | 8 | c.132 others(27): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DYRK4_chr12_4557208_4618875 | 4586705 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03209.hp1 HG03225.hp2 |
a0001a0006 | a0001c0009a0001c0032a0006c0018 | a0001c0009t0001a0001c0032t0001a0006c0018t0001 | a0001c0009t0001g0244a0001c0032t0001g0111a0006c0018t0001g0110 | 3 | 414 | 0.0073 | 8 | c.133 others(25): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DYRK4_chr12_4557208_4618875 | 4601876 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02258.hp2 HG02723.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0249a0001c0001t0001g0303a0001c0002t0001g0082others(11): Show | 14 | 414 | 0.0338 | 8 | c.112 others(27): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DYRK4_chr12_4557208_4618875 | 4606293 | G | GCTATCTA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01243.hp1 others(73): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(15): Show | a0001c0001t0001g0084a0001c0001t0001g0093a0001c0001t0001g0096others(71): Show | 76 | 414 | 0.1836 | 8 | c.130 others(27): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71470713 | C | CTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01123.hp2 HG02040.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0025a0002c0067others(2): Show | a0001c0001t0001a0001c0025t0002a0002c0067t0001others(2): Show | a0001c0001t0001g0037a0001c0025t0002g0188a0002c0067t0001g0038others(2): Show | 5 | 192 | 0.0260 | 8 | c.89- others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 1/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71470737 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01071.hp1 HG01433.hp2 others(1): Show |
a0001a0003a0024 | a0001c0002a0001c0076a0003c0062others(1): Show | a0001c0002t0001a0001c0076t0001a0003c0062t0001others(1): Show | a0001c0002t0001g0119a0001c0076t0001g0120a0003c0062t0001g0102others(1): Show | 4 | 192 | 0.0208 | 8 | c.89- others(25): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 1/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71481695 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02630.hp2 HG03225.hp1 others(6): Show |
a0001a0005a0026 | a0001c0001a0001c0002a0001c0015others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0015t0001others(5): Show | a0001c0001t0001g0192a0001c0002t0002g0166a0001c0015t0001g0003others(6): Show | 9 | 192 | 0.0469 | 8 | c.145 others(23): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 2/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71532830 | T | TTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00642.hp1 others(16): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0037a0001c0001t0001g0087a0001c0001t0002g0180others(16): Show | 19 | 192 | 0.0990 | 8 | c.128 others(27): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 13/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71565246 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02630.hp1 HG02809.hp2 others(3): Show |
a0001a0003a0015others(2): Show | a0001c0005a0001c0010a0003c0082others(3): Show | a0001c0005t0001a0001c0010t0004a0003c0082t0003others(3): Show | a0001c0005t0001g0056a0001c0010t0004g0033a0003c0082t0003g0185others(3): Show | 6 | 192 | 0.0313 | 8 | c.251 others(27): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 24/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |