view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDYL_chr6_4771404_4960544 | 4819116 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02257.hp1 HG02273.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0001g0078 others(12): Show |
15 | 250 | 0.0600 | 8 | c.24+ others(25): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4821260 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02698.hp1 NA18948.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0073 a0001c0001t0001g0097 a0001c0001t0001g0168 others(5): Show |
8 | 250 | 0.0320 | 8 | c.24+ others(25): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4894937 | A | ATATGTGT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0078 a0001c0001t0001g0135 a0001c0001t0002g0006 |
3 | 250 | 0.0120 | 8 | c.691 others(25): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4895227 | A | ATGTGTAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01496.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0185 a0001c0001t0001g0249 a0001c0001t0002g0074 others(3): Show |
6 | 250 | 0.0240 | 8 | c.691 others(25): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4897790 | G | GTTTTGTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01069.hp2 HG01071.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0087 others(30): Show |
33 | 250 | 0.1320 | 8 | c.691 others(25): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4900779 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG01975.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0011 a0001c0001t0001g0089 a0001c0001t0001g0139 others(4): Show |
7 | 250 | 0.0280 | 8 | c.691 others(25): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4927428 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01257.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0032 others(16): Show |
19 | 250 | 0.0760 | 8 | c.692 others(25): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4929493 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00741.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0084 others(18): Show |
21 | 250 | 0.0840 | 8 | c.692 others(25): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEACAM16_chr19_44694151_44715718 | 44706269 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03688.hp1 HG03688.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0087 a0001c0001t0001g0153 |
5 | 450 | 0.0111 | 8 | c.940 others(23): Show |
CEACAM16 | ENSG00000213892.12 | transcript | ENST00000587331.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CEACAM16_chr19_44694151_44715718 | 44706297 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01074.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0021 | a0001c0001t0001a0001c0002t0001a0001c0021t0001 | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0037 others(3): Show |
17 | 450 | 0.0378 | 8 | c.940 others(23): Show |
CEACAM16 | ENSG00000213892.12 | transcript | ENST00000587331.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CEACAM18_chr19_51473539_51496301 | 51495258 | T | TGGACGGA others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG02056.hp2 NA18989.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0003a0002c0002t0011a0004c0004t0002others(2): Show | a0001c0001t0003g0001 a0002c0002t0011g0029 a0004c0004t0002g0009 others(2): Show |
9 | 420 | 0.0214 | 8 | c.*46 others(19): Show |
CEACAM18 | ENSG00000213822.7 | transcript | ENST00000396477.5 | protein_coding | 3958 | chr19 | TogoVar | |||||||
CEACAM18_chr19_51473539_51496301 | 51495313 | G | GTGGATGG others(1): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 NA18747.hp2 NA18956.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0014a0003c0003t0002 | a0001c0001t0002g0001 a0001c0001t0002g0066 a0001c0001t0014g0001 others(1): Show |
4 | 420 | 0.0095 | 8 | c.*46 others(19): Show |
CEACAM18 | ENSG00000213822.7 | transcript | ENST00000396477.5 | protein_coding | 4013 | chr19 | TogoVar | |||||||
CEACAM18_chr19_51473539_51496301 | 51495397 | A | ATGGACGG others(1): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02615.hp2 others(7): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0007a0004c0004t0005a0005c0005t0001 | a0001c0001t0007g0007 a0004c0004t0005g0003 a0005c0005t0001g0052 |
10 | 420 | 0.0238 | 8 | c.*47 others(19): Show |
CEACAM18 | ENSG00000213822.7 | transcript | ENST00000396477.5 | protein_coding | 4097 | chr19 | TogoVar | |||||||
CEACAM18_chr19_51473539_51496301 | 51495398 | T | TGGATGGA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00544.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0004g0001 others(11): Show |
34 | 420 | 0.0810 | 8 | c.*47 others(19): Show |
CEACAM18 | ENSG00000213822.7 | transcript | ENST00000396477.5 | protein_coding | 4098 | chr19 | TogoVar | |||||||
CEACAM19_chr19_44666482_44689355 | 44668316 | T | TATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0069 a0001c0001t0001g0070 others(2): Show |
7 | 390 | 0.0180 | 8 | c.-36 others(19): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3165 | chr19 | TogoVar | |||||||
CEACAM19_chr19_44666482_44689355 | 44675097 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01175.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 others(13): Show |
37 | 390 | 0.0949 | 8 | c.425 others(25): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CEACAM1_chr19_42502306_42533481 | 42513893 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03927.hp1 NA19083.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 a0001c0002t0002g0161 a0001c0002t0002g0179 |
3 | 290 | 0.0103 | 8 | c.124 others(27): Show |
CEACAM1 | ENSG00000079385.23 | transcript | ENST00000161559.11 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
CEACAM1_chr19_42502306_42533481 | 42527504 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 |
3 | 290 | 0.0103 | 8 | c.65- others(21): Show |
CEACAM1 | ENSG00000079385.23 | transcript | ENST00000161559.11 | protein_coding | 1/8 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44510532 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01928.hp2 HG01993.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0004a0005c0005 | a0001c0001t0001a0002c0004t0001a0005c0005t0001 | a0001c0001t0001g0180 a0001c0001t0001g0211 a0002c0004t0001g0403 others(4): Show |
7 | 438 | 0.0160 | 8 | c.173 others(25): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 11/11 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44510547 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01433.hp2 HG02559.hp2 others(1): Show |
a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0258 a0008c0006t0001g0376 a0008c0006t0001g0377 others(1): Show |
4 | 438 | 0.0091 | 8 | c.173 others(25): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 11/11 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44518079 | G | GAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01358.hp1 others(8): Show |
a0001a0006a0017 | a0001c0001a0006c0030a0017c0025 | a0001c0001t0001a0006c0030t0001a0017c0025t0001 | a0001c0001t0001g0150 a0001c0001t0001g0181 a0001c0001t0001g0184 others(8): Show |
11 | 438 | 0.0251 | 8 | c.103 others(25): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 5/11 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44523409 | A | AAATGAAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00597.hp1 others(26): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0012a0003c0002others(7): Show | a0001c0001t0001a0002c0012t0001a0003c0002t0001others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0142 a0001c0001t0001g0143 others(24): Show |
29 | 438 | 0.0662 | 8 | c.473 others(23): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 3/11 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44529354 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02970.hp1 others(2): Show |
a0006a0028 | a0006c0010a0028c0036 | a0006c0010t0001a0028c0036t0001 | a0006c0010t0001g0125 a0006c0010t0001g0127 a0006c0010t0001g0128 others(2): Show |
5 | 438 | 0.0114 | 8 | c.52+ others(20): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44532565 | A | AAAAGAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG01978.hp2 HG02559.hp2 |
a0003a0008 | a0003c0002a0008c0006 | a0003c0002t0001a0008c0006t0001 | a0003c0002t0001g0238 a0008c0006t0001g0248 a0008c0006t0001g0377 |
3 | 438 | 0.0069 | 8 | c.-30 others(19): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2891 | chr19 | TogoVar | |||||||
CEACAM3_chr19_41791587_41816554 | 41803753 | A | AGTCACGC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(173): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0135 a0001c0001t0002g0002 others(58): Show |
176 | 416 | 0.4231 | 8 | c.425 others(25): Show |
CEACAM3 | ENSG00000170956.17 | transcript | ENST00000357396.8 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
CEACAM4_chr19_41614015_41632074 | 41622853 | T | TATAGATA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01074.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0152 others(13): Show |
23 | 437 | 0.0526 | 8 | c.425 others(25): Show |
CEACAM4 | ENSG00000105352.11 | transcript | ENST00000221954.7 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
CEACAM5_chr19_41703626_41735433 | 41709537 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(73): Show |
a0001a0006a0009others(2): Show | a0001c0001a0001c0012a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0050 others(35): Show |
76 | 374 | 0.2032 | 8 | c.65- others(21): Show |
CEACAM5 | ENSG00000105388.17 | transcript | ENST00000221992.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CEACAM8_chr19_42575243_42599924 | 42584203 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01891.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 a0001c0001t0004g0020 a0001c0001t0004g0053 |
10 | 314 | 0.0319 | 8 | c.959 others(23): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
CEACAM8_chr19_42575243_42599924 | 42598201 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG02109.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0097 a0001c0001t0002g0140 a0001c0001t0004g0020 |
3 | 314 | 0.0096 | 8 | c.-33 others(19): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 3278 | chr19 | TogoVar | |||||||
CEBPD_chr8_47731913_47743164 | 47740915 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG02071.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0002t0001a0003c0008t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 a0003c0008t0001g0000 |
24 | 316 | 0.0760 | 8 | c.-27 others(19): Show |
CEBPD | ENSG00000221869.5 | transcript | ENST00000408965.4 | protein_coding | 2752 | chr8 | TogoVar | |||||||
CEBPE_chr14_23112306_23124255 | 23117248 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00733.hp1 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(1): Show |
62 | 458 | 0.1354 | 8 | c.*23 others(17): Show |
CEBPE | ENSG00000092067.7 | transcript | ENST00000206513.6 | protein_coding | 57 | chr14 | TogoVar | |||||||
CEBPZOS_chr2_37191496_37209743 | 37194897 | T | TTTCCTTC others(1): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0028 | a0001c0001t0025g0004 a0001c0001t0028g0004 |
3 | 466 | 0.0064 | 8 | c.-16 others(19): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 1598 | chr2 | TogoVar | |||||||
CEBPZ_chr2_37196612_37236596 | 37235639 | C | CTTATTTA others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(74): Show |
97 | 438 | 0.2215 | 8 | c.-40 others(19): Show |
CEBPZ | ENSG00000115816.15 | transcript | ENST00000234170.10 | protein_coding | 4044 | chr2 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17379581 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG02886.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0239 a0001c0001t0002g0200 a0001c0001t0003g0043 others(6): Show |
9 | 324 | 0.0278 | 8 | c.126 others(25): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17409964 | C | CTATTTAT others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02965.hp2 HG03130.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0019a0002c0002 | a0001c0001t0034a0001c0001t0039a0001c0001t0044others(2): Show | a0001c0001t0034g0011 a0001c0001t0039g0278 a0001c0001t0044g0012 others(2): Show |
5 | 324 | 0.0154 | 8 | c.126 others(27): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17428798 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 NA18952.hp1 NA18975.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0011a0002c0002t0003 | a0001c0001t0003g0118 a0001c0001t0011g0113 a0002c0002t0003g0076 others(1): Show |
4 | 324 | 0.0124 | 8 | c.127 others(27): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17447033 | C | CTGTTTTT others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01928.hp2 HG02145.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0010a0001c0001t0011a0001c0001t0012others(8): Show | a0001c0001t0010g0002 a0001c0001t0010g0040 a0001c0001t0011g0136 others(10): Show |
13 | 324 | 0.0401 | 8 | c.127 others(27): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17466598 | C | CCTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(38): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0002g0029 others(38): Show |
41 | 324 | 0.1265 | 8 | c.127 others(27): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | chr22 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17480419 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0023 a0001c0001t0001g0223 a0001c0001t0001g0266 others(25): Show |
28 | 324 | 0.0864 | 8 | c.221 others(25): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17480459 | C | CACACAGA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01361.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0030 | a0001c0001t0005a0001c0001t0012a0001c0001t0013others(3): Show | a0001c0001t0005g0241 a0001c0001t0012g0264 a0001c0001t0013g0236 others(3): Show |
6 | 324 | 0.0185 | 8 | c.221 others(25): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17487870 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 NA18944.hp1 NA18948.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0127 a0001c0001t0002g0121 a0001c0001t0002g0231 others(13): Show |
16 | 324 | 0.0494 | 8 | c.222 others(25): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17504046 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01255.hp2 HG03098.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0127 a0001c0001t0002g0121 a0001c0001t0002g0231 others(16): Show |
19 | 324 | 0.0586 | 8 | c.701 others(23): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17504435 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01358.hp2 HG01515.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0002a0001c0001t0008a0001c0001t0057others(3): Show | a0001c0001t0002g0058 a0001c0001t0002g0128 a0001c0001t0002g0182 others(5): Show |
8 | 324 | 0.0247 | 8 | c.701 others(23): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17525285 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01928.hp2 others(7): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0138 others(7): Show |
10 | 324 | 0.0309 | 8 | c.110 others(27): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | chr22 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17550132 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02965.hp1 NA19010.hp1 others(1): Show |
a0001 | a0001c0001a0001c0009a0001c0014 | a0001c0001t0001a0001c0001t0004a0001c0009t0048others(1): Show | a0001c0001t0001g0169 a0001c0001t0004g0074 a0001c0009t0048g0273 others(1): Show |
4 | 324 | 0.0124 | 8 | c.427 others(25): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CELA1_chr12_51323442_51351679 | 51338255 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01175.hp2 HG01257.hp1 others(6): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0002 | a0001c0002t0002g0073 a0001c0004t0002g0017 a0001c0004t0002g0028 others(2): Show |
9 | 406 | 0.0222 | 8 | c.609 others(25): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 6/7 | chr12 | TogoVar | |||||||
CELA1_chr12_51323442_51351679 | 51338287 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0011 a0001c0003t0002g0094 |
7 | 406 | 0.0172 | 8 | c.609 others(25): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 6/7 | chr12 | TogoVar | |||||||
CELA1_chr12_51323442_51351679 | 51338302 | A | ACACATAC others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02970.hp2 NA18946.hp1 others(2): Show |
a0001 | a0001c0003a0001c0005a0001c0006 | a0001c0003t0001a0001c0005t0001a0001c0006t0001 | a0001c0003t0001g0044 a0001c0003t0001g0137 a0001c0005t0001g0069 others(1): Show |
5 | 406 | 0.0123 | 8 | c.609 others(25): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 6/7 | chr12 | TogoVar | |||||||
CELA1_chr12_51323442_51351679 | 51347995 | A | AAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG01070.hp1 others(28): Show |
a0001a0002a0003 | a0001c0005a0002c0001a0003c0008 | a0001c0005t0001a0002c0001t0001a0002c0001t0002others(1): Show | a0001c0005t0001g0015 a0001c0005t0001g0058 a0001c0005t0001g0062 others(19): Show |
31 | 406 | 0.0764 | 8 | c.-13 others(19): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1317 | chr12 | TogoVar | |||||||
CELA1_chr12_51323442_51351679 | 51348043 | T | TAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG03195.hp2 HG03453.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0002 | a0001c0002t0002g0116 a0001c0002t0002g0118 a0002c0001t0002g0212 |
3 | 406 | 0.0074 | 8 | c.-14 others(19): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1365 | chr12 | TogoVar |