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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPYS_chr8_104374431_104472055 | 104450147 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02602.hp1 HG02647.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0003c0007t0006 | a0001c0001t0001g0137a0001c0001t0001g0140a0001c0001t0002g0334others(1): Show | 4 | 380 | 0.0105 | 8 | c.423 others(25): Show |
DPYS | ENSG00000147647.13 | transcript | ENST00000351513.7 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
DPYS_chr8_104374431_104472055 | 104450159 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18955.hp1 NA18986.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0128a0001c0001t0002g0012others(1): Show | 6 | 380 | 0.0158 | 8 | c.423 others(25): Show |
DPYS | ENSG00000147647.13 | transcript | ENST00000351513.7 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
DQX1_chr2_74513131_74531231 | 74521768 | T | TCTCTCCC others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02970.hp1 HG03209.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0004a0003c0004t0001 | a0001c0001t0001g0046a0001c0001t0004g0021a0003c0004t0001g0013 | 6 | 356 | 0.0169 | 8 | c.149 others(25): Show |
DQX1 | ENSG00000144045.14 | transcript | ENST00000404568.4 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
DR1_chr1_93340907_93374493 | 93357518 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(292): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(90): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0022others(154): Show | 295 | 360 | 0.8194 | 8 | c.385 others(25): Show |
DR1 | ENSG00000117505.13 | transcript | ENST00000370272.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DR1_chr1_93340907_93374493 | 93373652 | A | AAAAGAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 HG04199.hp2 NA18941.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0018others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0041a0001c0001t0002g0068others(4): Show | 11 | 360 | 0.0306 | 8 | c.*13 others(21): Show |
DR1 | ENSG00000117505.13 | transcript | ENST00000370272.9 | protein_coding | 4160 | chr1 | TogoVar | |||||||
DRAM1_chr12_101872580_101928612 | 101889503 | A | AAGGAAAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01106.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0240a0001c0001t0001g0241a0001c0001t0001g0242others(16): Show | 20 | 396 | 0.0505 | 8 | c.132 others(25): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DRAM1_chr12_101872580_101928612 | 101895566 | A | ATTTTTGG others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(140): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0161a0001c0001t0001g0163a0001c0001t0001g0173others(139): Show | 143 | 396 | 0.3611 | 8 | c.132 others(25): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DRAM1_chr12_101872580_101928612 | 101895571 | T | TGGTTTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0361a0001c0001t0009g0363a0001c0001t0009g0364others(3): Show | 6 | 396 | 0.0152 | 8 | c.132 others(25): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
DRAM1_chr12_101872580_101928612 | 101905757 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG01891.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0240a0001c0001t0001g0241a0001c0001t0003g0085others(17): Show | 20 | 396 | 0.0505 | 8 | c.343 others(25): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DRAM1_chr12_101872580_101928612 | 101923093 | A | AAAATAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0038a0001c0001t0040 | a0001c0001t0007g0080a0001c0001t0007g0197a0001c0001t0007g0384others(6): Show | 9 | 396 | 0.0227 | 8 | c.*18 others(19): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 7/7 | 1854 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DRAXIN_chr1_11686710_11730857 | 11699926 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02647.hp1 others(6): Show |
a0004a0008 | a0004c0006a0008c0009 | a0004c0006t0007a0004c0006t0013a0004c0006t0027others(3): Show | a0004c0006t0007g0061a0004c0006t0013g0063a0004c0006t0013g0064others(5): Show | 9 | 398 | 0.0226 | 8 | c.-10 others(25): Show |
DRAXIN | ENSG00000162490.7 | transcript | ENST00000294485.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DRAXIN_chr1_11686710_11730857 | 11718000 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00642.hp2 others(92): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0002a0001c0001t0001g0028a0001c0001t0001g0040others(81): Show | 95 | 398 | 0.2387 | 8 | c.938 others(25): Show |
DRAXIN | ENSG00000162490.7 | transcript | ENST00000294485.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DRAXIN_chr1_11686710_11730857 | 11718884 | A | ATTTGTTT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02976.hp2 HG03098.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0006a0002c0002t0021 | a0001c0001t0003g0181a0001c0001t0006g0179a0002c0002t0021g0010 | 4 | 398 | 0.0101 | 8 | c.938 others(23): Show |
DRAXIN | ENSG00000162490.7 | transcript | ENST00000294485.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DRAXIN_chr1_11686710_11730857 | 11727667 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG02135.hp2 others(30): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0014a0001c0001t0024others(6): Show | a0001c0001t0003g0009a0001c0001t0003g0035a0001c0001t0003g0073others(26): Show | 33 | 398 | 0.0829 | 8 | c.*79 others(19): Show |
DRAXIN | ENSG00000162490.7 | transcript | ENST00000294485.6 | protein_coding | 1811 | chr1 | TogoVar | |||||||
DRC3_chr17_17967862_18021889 | 18010946 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02129.hp2 HG02717.hp1 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091a0002c0002t0002g0096a0002c0002t0002g0126others(13): Show | 16 | 324 | 0.0494 | 8 | c.132 others(27): Show |
DRC3 | ENSG00000171962.19 | transcript | ENST00000399187.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DRC3_chr17_17967862_18021889 | 18017262 | A | AGCTGACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01071.hp2 others(25): Show |
a0002a0003a0016 | a0002c0002a0003c0003a0016c0017 | a0002c0002t0002a0003c0003t0002a0003c0003t0006others(2): Show | a0002c0002t0002g0096a0002c0002t0002g0126a0002c0002t0002g0127others(24): Show | 28 | 324 | 0.0864 | 8 | c.*59 others(17): Show |
DRC3 | ENSG00000171962.19 | transcript | ENST00000399187.6 | protein_coding | 374 | chr17 | TogoVar | |||||||
DRC3_chr17_17967862_18021889 | 18019147 | C | CCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00673.hp1 others(64): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0004c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(59): Show | 67 | 324 | 0.2068 | 8 | c.*24 others(19): Show |
DRC3 | ENSG00000171962.19 | transcript | ENST00000399187.6 | protein_coding | 2259 | chr17 | TogoVar | |||||||
DRC3_chr17_17967862_18021889 | 18020108 | T | TTTTGTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(198): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0016a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(185): Show | 201 | 324 | 0.6204 | 8 | c.*34 others(19): Show |
DRC3 | ENSG00000171962.19 | transcript | ENST00000399187.6 | protein_coding | 3220 | chr17 | TogoVar | |||||||
DRC7_chr16_57689806_57736805 | 57704376 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01433.hp1 HG02258.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005others(1): Show | a0001c0001t0001a0003c0003t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0058a0001c0001t0001g0082a0003c0003t0001g0262others(4): Show | 7 | 388 | 0.0180 | 8 | c.700 others(23): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DRC7_chr16_57689806_57736805 | 57714634 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 NA18522.hp1 |
a0003a0026 | a0003c0017a0026c0036 | a0003c0017t0001a0026c0036t0001 | a0003c0017t0001g0030a0026c0036t0001g0294 | 3 | 388 | 0.0077 | 8 | c.107 others(27): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DRC7_chr16_57689806_57736805 | 57729683 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(88): Show |
a0002a0003a0004others(9): Show | a0002c0002a0003c0003a0003c0017others(18): Show | a0002c0002t0004a0003c0003t0001a0003c0003t0006others(19): Show | a0002c0002t0004g0061a0002c0002t0004g0062a0002c0002t0004g0063others(75): Show | 91 | 388 | 0.2345 | 8 | c.239 others(27): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DRD2_chr11_113404605_113480398 | 113452435 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01255.hp1 HG01257.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0003a0001c0003t0002 | a0001c0001t0001g0294a0001c0002t0003g0212a0001c0003t0002g0284 | 3 | 340 | 0.0088 | 8 | c.-32 others(27): Show |
DRD2 | ENSG00000149295.14 | transcript | ENST00000362072.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
DRD2_chr11_113404605_113480398 | 113452469 | T | TGTGTGCG others(1): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02602.hp2 NA18993.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0003a0001c0009t0003 | a0001c0001t0001g0091a0001c0001t0001g0132a0001c0002t0003g0130others(2): Show | 5 | 340 | 0.0147 | 8 | c.-32 others(27): Show |
DRD2 | ENSG00000149295.14 | transcript | ENST00000362072.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
DRD2_chr11_113404605_113480398 | 113452469 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02040.hp2 HG03942.hp2 NA19062.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0003a0001c0003t0002 | a0001c0001t0001g0112a0001c0002t0003g0106a0001c0003t0002g0282 | 3 | 340 | 0.0088 | 8 | c.-32 others(27): Show |
DRD2 | ENSG00000149295.14 | transcript | ENST00000362072.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
DRD2_chr11_113404605_113480398 | 113465411 | G | GTTGTTTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0003others(1): Show | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0164others(32): Show | 39 | 340 | 0.1147 | 8 | c.-32 others(25): Show |
DRD2 | ENSG00000149295.14 | transcript | ENST00000362072.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
DRD2_chr11_113404605_113480398 | 113476064 | T | TTTTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01099.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0003others(2): Show | a0001c0001t0001g0210a0001c0001t0001g0261a0001c0001t0001g0276others(8): Show | 11 | 340 | 0.0324 | 8 | c.-10 others(19): Show |
DRD2 | ENSG00000149295.14 | transcript | ENST00000362072.8 | protein_coding | 667 | chr11 | TogoVar | |||||||
DRD3_chr3_114122580_114184052 | 114164220 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03471.hp1 NA18939.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0246a0001c0002t0001g0259a0001c0002t0004g0051others(4): Show | 7 | 360 | 0.0194 | 8 | c.271 others(25): Show |
DRD3 | ENSG00000151577.14 | transcript | ENST00000383673.5 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 633770 | A | ATTATTTA others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00621.hp1 others(57): Show |
a0000a0001a0004others(3): Show | a0000c0007a0001c0001a0001c0006others(4): Show | a0000c0007t0001a0001c0001t0001a0001c0006t0001others(4): Show | a0000c0007t0001g0001a0000c0007t0001g0005a0001c0001t0001g0001others(13): Show | 60 | 421 | 0.1425 | 8 | c.-35 others(19): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3498 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 639573 | G | GGCGCCCC others(1): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18522.hp2 NA19030.hp2 |
a0000a0005a0027 | a0000c0052a0005c0005a0027c0039 | a0000c0052t0001a0005c0005t0001a0027c0039t0001 | a0000c0052t0001g0058a0005c0005t0001g0026a0027c0039t0001g0026 | 3 | 421 | 0.0071 | 8 | c.398 others(21): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DRD5_chr4_9776634_9789009 | 9778053 | T | TTTCCTTC others(1): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG02083.hp2 HG02132.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0003a0001c0005t0003 | a0001c0001t0001g0000a0001c0002t0003g0000a0001c0005t0003g0000 | 21 | 454 | 0.0463 | 8 | c.-39 others(19): Show |
DRD5 | ENSG00000169676.6 | transcript | ENST00000304374.4 | protein_coding | 3580 | chr4 | TogoVar | |||||||
DRG2_chr17_18082948_18112969 | 18090236 | G | GGCTGGAG others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237a0001c0001t0002g0238a0001c0001t0002g0301 | 3 | 418 | 0.0072 | 8 | c.64+ others(23): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DRG2_chr17_18082948_18112969 | 18090368 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02155.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0152 | 3 | 418 | 0.0072 | 8 | c.64+ others(23): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31397452 | T | TTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG02523.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0002t0001a0001c0007t0001 | a0001c0001t0002g0003a0001c0001t0002g0120a0001c0002t0001g0192others(3): Show | 6 | 322 | 0.0186 | 8 | c.*39 others(19): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 3041 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31399381 | A | ATGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(5): Show | a0001c0001t0002g0122a0001c0001t0002g0142a0001c0001t0002g0144others(21): Show | 24 | 322 | 0.0745 | 8 | c.*20 others(19): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 1112 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31446446 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00558.hp2 others(34): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0002g0034a0001c0001t0002g0089a0001c0001t0002g0162others(34): Show | 37 | 322 | 0.1149 | 8 | c.288 others(27): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 23/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31480178 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01243.hp2 others(28): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(10): Show | a0001c0001t0002g0116a0001c0001t0002g0132a0001c0001t0002g0134others(28): Show | 31 | 322 | 0.0963 | 8 | c.207 others(27): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 16/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31484505 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00609.hp1 others(67): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0113a0001c0001t0002g0002a0001c0001t0002g0003others(67): Show | 70 | 322 | 0.2174 | 8 | c.199 others(25): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 15/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31493936 | A | ACTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02027.hp1 HG02129.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0002g0120a0001c0001t0002g0124a0001c0001t0002g0134others(18): Show | 21 | 322 | 0.0652 | 8 | c.175 others(25): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 12/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31493937 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01934.hp1 HG02027.hp2 others(10): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0002others(5): Show | a0001c0001t0002g0076a0001c0001t0002g0077a0001c0001t0002g0089others(10): Show | 13 | 322 | 0.0404 | 8 | c.175 others(25): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 12/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31494842 | T | TTTTTTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01952.hp1 HG01981.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0003 | a0001c0001t0002g0162a0001c0001t0002g0163a0001c0001t0002g0164others(9): Show | 12 | 322 | 0.0373 | 8 | c.175 others(25): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 12/35 | chr5 | TogoVar | |||||||
DRP2_chrX_101214786_101269502 | 101219722 | C | CCCCTCTC others(1): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02055.hp1 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0001g0017a0001c0001t0001g0206a0001c0001t0003g0004others(17): Show | 23 | 260 | 0.0885 | 8 | c.-59 others(17): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 63 | chrX | TogoVar | |||||||
DRP2_chrX_101214786_101269502 | 101220286 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 260 | 0.0077 | 8 | c.-16 others(25): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DRP2_chrX_101214786_101269502 | 101264932 | C | CTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(19): Show |
a0001a0006 | a0001c0001a0001c0014a0006c0013 | a0001c0001t0002a0001c0001t0004a0001c0001t0028others(2): Show | a0001c0001t0002g0007a0001c0001t0002g0011a0001c0001t0002g0012others(17): Show | 22 | 260 | 0.0846 | 8 | c.*43 others(19): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 431 | chrX | TogoVar | |||||||
DRP2_chrX_101214786_101269502 | 101265648 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 260 | 0.0039 | 8 | c.*50 others(19): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 1147 | chrX | TogoVar | |||||||
DSC1_chr18_31124236_31167856 | 31125452 | C | CTTTATTT others(1): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 NA19064.hp1 |
a0001a0003 | a0001c0001a0003c0022 | a0001c0001t0002a0003c0022t0008 | a0001c0001t0002g0010a0003c0022t0008g0113a0003c0022t0008g0114 | 3 | 378 | 0.0079 | 8 | c.*50 others(19): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 3783 | chr18 | TogoVar | |||||||
DSC1_chr18_31124236_31167856 | 31137965 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01515.hp1 HG01517.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0008a0001c0001t0002g0278a0001c0003t0002g0207 | 5 | 378 | 0.0132 | 8 | c.166 others(27): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 11/15 | chr18 | TogoVar | |||||||
DSC3_chr18_30984365_31047742 | 30995971 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG01109.hp1 others(49): Show |
a0001a0002a0010 | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0080a0001c0001t0001g0112a0001c0001t0001g0115others(49): Show | 52 | 392 | 0.1327 | 8 | c.249 others(25): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 15/15 | chr18 | TogoVar | |||||||
DSC3_chr18_30984365_31047742 | 31027464 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(102): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0140a0001c0001t0001g0210a0001c0001t0002g0157others(99): Show | 105 | 392 | 0.2679 | 8 | c.475 others(25): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 4/15 | chr18 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117442333 | A | AGTGTGTA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp1 others(70): Show |
a0001a0002a0003others(3): Show | a0001c0005a0001c0008a0001c0011others(26): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0003others(44): Show | a0001c0005t0001g0084a0001c0005t0001g0096a0001c0005t0001g0099others(70): Show | 73 | 194 | 0.3763 | 8 | c.386 others(27): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 21/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117477198 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG02109.hp1 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0009a0001c0013a0001c0017others(7): Show | a0001c0009t0001a0001c0009t0002a0001c0009t0003others(9): Show | a0001c0009t0001g0068a0001c0009t0001g0069a0001c0009t0002g0019others(12): Show | 15 | 194 | 0.0773 | 8 | c.278 others(27): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 14/32 | chr11 | TogoVar |