| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CDKL2_chr4_75571496_75635528 | 75571671 | GTTTTTTT others(13): Show |
G | downstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0263 | 1 | 306 | 0.0033 | -20 | c.*75 others(31): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 4824 | chr4 | TogoVar | ||||||
| CDKL2_chr4_75571496_75635528 | 75574389 | CAAAAAAA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02647.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0206a0001c0001t0002g0144a0001c0001t0013g0085others(1): Show | 4 | 306 | 0.0131 | -20 | c.*47 others(31): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 2106 | chr4 | TogoVar | ||||||
| CDKL2_chr4_75571496_75635528 | 75595956 | GGAAGGAA others(13): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG01070.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0001 | a0001c0001t0001g0133a0001c0001t0001g0146a0001c0001t0001g0160others(17): Show | 20 | 306 | 0.0654 | -20 | c.141 others(37): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 10/13 | chr4 | TogoVar | ||||||
| CDKL2_chr4_75571496_75635528 | 75595976 | AGAAGGAA others(13): Show |
A | intron_variant | MODIFIER | HG03942.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100a0001c0001t0002g0114 | 2 | 306 | 0.0065 | -20 | c.141 others(37): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 10/13 | chr4 | TogoVar | ||||||
| CDKL2_chr4_75571496_75635528 | 75596013 | GAAGGAAG others(13): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048a0001c0001t0004g0051a0001c0001t0004g0076 | 3 | 306 | 0.0098 | -20 | c.141 others(37): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 10/13 | chr4 | TogoVar | ||||||
| CDKL2_chr4_75571496_75635528 | 75629938 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01081.hp2 HG01123.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011 | a0001c0001t0001g0057a0001c0001t0004g0048a0001c0001t0004g0050others(26): Show | 29 | 306 | 0.0948 | -20 | c.-30 others(34): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
| CDKL3_chr5_134293424_134372171 | 134297890 | TTGTGTGT others(13): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051a0001c0001t0002g0073 | 2 | 210 | 0.0095 | -20 | c.*74 others(29): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 533 | chr5 | TogoVar | ||||||
| CDKL3_chr5_134293424_134372171 | 134326815 | GTGTATAT others(13): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0037 | 2 | 210 | 0.0095 | -20 | c.540 others(37): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | TogoVar | ||||||
| CDKL3_chr5_134293424_134372171 | 134326848 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0081others(2): Show | 5 | 210 | 0.0238 | -20 | c.540 others(37): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | TogoVar | ||||||
| CDKL4_chr2_39170646_39248970 | 39213889 | TTTTTGTT others(13): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02717.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0015others(10): Show | 13 | 290 | 0.0448 | -20 | c.291 others(35): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
| CDKL4_chr2_39170646_39248970 | 39217701 | ATTATTTA others(13): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02145.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0012a0001c0003t0001g0014a0001c0003t0001g0207others(3): Show | 6 | 290 | 0.0207 | -20 | c.291 others(37): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
| CDKL4_chr2_39170646_39248970 | 39220993 | TTTTTTTT others(13): Show |
T | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 290 | 0.0035 | -20 | c.290 others(37): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
| CDKL5_chrX_18420608_18645196 | 18518388 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0155 | 1 | 192 | 0.0052 | -20 | c.99+ others(35): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CDKL5_chrX_18420608_18645196 | 18626661 | CCTCTCTC others(13): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0144 | 1 | 192 | 0.0052 | -20 | c.249 others(39): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CDKN2A_chr9_21962752_21999392 | 21990611 | TGAGAGAG others(13): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 404 | 0.0025 | -20 | c.193 others(37): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
| CDKN2A_chr9_21962752_21999392 | 21993799 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 404 | 0.0025 | -20 | c.193 others(35): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
| CDON_chr11_125951821_126067866 | 125974382 | AAGGAAGG others(13): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01358.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0009a0001c0067a0002c0012others(2): Show | a0001c0009t0004a0001c0009t0014a0001c0009t0059others(7): Show | a0001c0009t0004g0071a0001c0009t0004g0085a0001c0009t0004g0104others(19): Show | 22 | 334 | 0.0659 | -20 | c.335 others(39): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 18/19 | chr11 | TogoVar | ||||||
| CDR2L_chr17_74982632_75010800 | 74983010 | TTTATGTT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01934.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0014others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0083a0001c0002t0002g0080others(4): Show | 8 | 352 | 0.0227 | -20 | c.-50 others(31): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 4621 | chr17 | TogoVar | ||||||
| CDR2L_chr17_74982632_75010800 | 74997032 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 352 | 0.0028 | -20 | c.80- others(35): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CDS1_chr4_84578127_84656334 | 84599395 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013a0001c0001t0002g0355 | 2 | 384 | 0.0052 | -20 | c.118 others(37): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CDS2_chr20_5122008_5202887 | 5202775 | CACACAGA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0207 | 1 | 348 | 0.0029 | -20 | c.*12 others(33): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 4889 | chr20 | TogoVar | ||||||
| CDS2_chr20_5122008_5202887 | 5202781 | GACACACA others(13): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02145.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0009a0001c0001t0038others(4): Show | a0001c0001t0007g0034a0001c0001t0007g0052a0001c0001t0007g0170others(13): Show | 16 | 348 | 0.0460 | -20 | c.*12 others(33): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 4895 | chr20 | TogoVar | ||||||
| CDV3_chr3_133568686_133595261 | 133576367 | CCTGTAAA others(13): Show |
C | intron_variant | MODIFIER | HG02165.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0123 | 2 | 386 | 0.0052 | -20 | c.317 others(37): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
| CDYL2_chr16_80592907_80809598 | 80717149 | AGATGGAT others(13): Show |
A | intron_variant | MODIFIER | HG02738.hp2 NA20805.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0245a0001c0002t0004g0193 | 2 | 258 | 0.0078 | -20 | c.25- others(37): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
| CDYL2_chr16_80592907_80809598 | 80723969 | GGGAGAGA others(13): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02970.hp2 HG03471.hp1 others(4): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0005a0001c0002t0012a0001c0005t0002others(2): Show | a0001c0002t0005g0021a0001c0002t0005g0022a0001c0002t0012g0029others(4): Show | 7 | 258 | 0.0271 | -20 | c.25- others(37): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
| CDYL_chr6_4771404_4960544 | 4780386 | ACCCCCGC others(13): Show |
A | intron_variant | MODIFIER | HG02647.hp2 NA18956.hp2 NA18970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0046a0001c0001t0001g0168a0001c0001t0001g0233others(2): Show | 5 | 250 | 0.0200 | -20 | c.24+ others(35): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDYL_chr6_4771404_4960544 | 4819148 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG03130.hp1 NA19043.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0227a0001c0003t0004g0028 | 2 | 250 | 0.0080 | -20 | c.24+ others(37): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDYL_chr6_4771404_4960544 | 4852431 | CCTTCCTT others(13): Show |
C | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 250 | 0.0040 | -20 | c.25- others(37): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDYL_chr6_4771404_4960544 | 4852475 | CCTTCCTT others(13): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02071.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0070a0001c0002t0004g0005 | 2 | 250 | 0.0080 | -20 | c.25- others(37): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDYL_chr6_4771404_4960544 | 4895407 | GTATACGT others(13): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0189a0001c0001t0002g0187a0001c0001t0002g0188others(2): Show | 5 | 250 | 0.0200 | -20 | c.691 others(37): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDYL_chr6_4771404_4960544 | 4900779 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG01891.hp2 NA18956.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0123a0001c0002t0004g0125 | 2 | 250 | 0.0080 | -20 | c.691 others(37): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CEACAM16_chr19_44694151_44715718 | 44699655 | GCATGAGC others(13): Show |
G | intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 450 | 0.0022 | -20 | c.-97 others(35): Show |
CEACAM16 | ENSG00000213892.12 | transcript | ENST00000587331.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CEACAM18_chr19_51473539_51496301 | 51495393 | ATGGATGG others(13): Show |
A | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0006 | a0006c0007 | a0006c0007t0013 | a0006c0007t0013g0047 | 1 | 420 | 0.0024 | -20 | c.*47 others(31): Show |
CEACAM18 | ENSG00000213822.7 | transcript | ENST00000396477.5 | protein_coding | 4093 | chr19 | TogoVar | ||||||
| CEACAM18_chr19_51473539_51496301 | 51495401 | GTGGGTGG others(13): Show |
G | downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 420 | 0.0024 | -20 | c.*47 others(31): Show |
CEACAM18 | ENSG00000213822.7 | transcript | ENST00000396477.5 | protein_coding | 4101 | chr19 | TogoVar | ||||||
| CEACAM20_chr19_44501159_44534675 | 44518103 | AAAGGAAG others(13): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG02040.hp2 HG02071.hp1 others(11): Show |
a0003a0004a0005others(3): Show | a0003c0004a0004c0003a0005c0005others(3): Show | a0003c0004t0001a0004c0003t0001a0005c0005t0001others(3): Show | a0003c0004t0001g0223a0003c0004t0001g0287a0003c0004t0001g0296others(11): Show | 14 | 438 | 0.0320 | -20 | c.103 others(37): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
| CEACAM20_chr19_44501159_44534675 | 44532565 | AAAAGAAA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG03492.hp1 HG03654.hp2 NA19083.hp1 others(1): Show |
a0004a0005a0008 | a0004c0011a0005c0005a0008c0006 | a0004c0011t0001a0005c0005t0001a0008c0006t0001 | a0004c0011t0001g0109a0005c0005t0001g0168a0005c0005t0001g0175others(1): Show | 4 | 438 | 0.0091 | -20 | c.-30 others(31): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2891 | chr19 | TogoVar | ||||||
| CEACAM4_chr19_41614015_41632074 | 41616487 | TGATAGAT others(13): Show |
T | downstream_gene_variant | MODIFIER | NA19068.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 437 | 0.0046 | -20 | c.*28 others(31): Show |
CEACAM4 | ENSG00000105352.11 | transcript | ENST00000221954.7 | protein_coding | 2527 | chr19 | TogoVar | ||||||
| CEACAM4_chr19_41614015_41632074 | 41626063 | AGTGTGTG others(13): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0009 | a0001c0002t0001g0112a0001c0002t0004g0257a0001c0002t0004g0258others(2): Show | 6 | 437 | 0.0137 | -20 | c.65- others(33): Show |
CEACAM4 | ENSG00000105352.11 | transcript | ENST00000221954.7 | protein_coding | 1/6 | chr19 | TogoVar | ||||||
| CEACAM6_chr19_41750530_41777211 | 41756453 | GACACACA others(13): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02976.hp2 NA19030.hp1 |
a0001a0002 | a0001c0007a0002c0006 | a0001c0007t0019a0002c0006t0004 | a0001c0007t0019g0178a0002c0006t0004g0046 | 3 | 426 | 0.0070 | -20 | c.65- others(33): Show |
CEACAM6 | ENSG00000086548.9 | transcript | ENST00000199764.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CEBPD_chr8_47731913_47743164 | 47735095 | GGTGTGTG others(13): Show |
G | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02922.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 316 | 0.0095 | -20 | c.*21 others(31): Show |
CEBPD | ENSG00000221869.5 | transcript | ENST00000408965.4 | protein_coding | 1817 | chr8 | TogoVar | ||||||
| CEBPZOS_chr2_37191496_37209743 | 37194877 | CTCCCTTC others(13): Show |
C | upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002 | 1 | 466 | 0.0022 | -20 | c.-16 others(31): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 1618 | chr2 | TogoVar | ||||||
| CEBPZOS_chr2_37191496_37209743 | 37194879 | CCCTTCCT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp2 HG02976.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0078a0001c0001t0081 | a0001c0001t0020g0005a0001c0001t0078g0003a0001c0001t0081g0003 | 3 | 466 | 0.0064 | -20 | c.-16 others(31): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 1616 | chr2 | TogoVar | ||||||
| CEBPZOS_chr2_37191496_37209743 | 37194897 | TTTCCTTC others(13): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00673.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0002g0002a0001c0001t0002g0019a0001c0001t0002g0021others(10): Show | 49 | 466 | 0.1052 | -20 | c.-16 others(31): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 1598 | chr2 | TogoVar | ||||||
| CEBPZOS_chr2_37191496_37209743 | 37202644 | CAAAAAAA others(13): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02056.hp2 HG02886.hp1 HG02922.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0062a0001c0001t0063 | a0001c0001t0011g0009a0001c0001t0062g0001a0001c0001t0063g0002 | 10 | 466 | 0.0215 | -20 | c.*81 others(29): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 5/5 | 949 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
| CEBPZ_chr2_37196612_37236596 | 37202644 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02056.hp2 HG02886.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001 | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0166others(6): Show | 11 | 438 | 0.0251 | -20 | c.302 others(37): Show |
CEBPZ | ENSG00000115816.15 | transcript | ENST00000234170.10 | protein_coding | 15/15 | chr2 | TogoVar | ||||||
| CELA2A_chr1_15451732_15477091 | 15458908 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG01243.hp1 others(22): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0002t0001g0029a0001c0002t0001g0030a0001c0002t0001g0060others(18): Show | 25 | 430 | 0.0581 | -20 | c.129 others(37): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CELF2_chr10_11012872_11341675 | 11202935 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0046 | 1 | 194 | 0.0052 | -20 | c.272 others(39): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CELF2_chr10_11012872_11341675 | 11254886 | ATCCCATC others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00621.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0028a0001c0002t0001others(4): Show | a0001c0001t0001g0092a0001c0001t0028g0192a0001c0002t0001g0087others(7): Show | 10 | 194 | 0.0516 | -20 | c.404 others(37): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CELF3_chr1_151695058_151721803 | 151696461 | TTTTCTTT others(13): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01256.hp1 HG01258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0028a0001c0001t0005g0045 | 4 | 432 | 0.0093 | -20 | c.*69 others(31): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 3596 | chr1 | TogoVar | ||||||
| CELF3_chr1_151695058_151721803 | 151696486 | TTTCTTTC others(13): Show |
T | downstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0051 | 1 | 432 | 0.0023 | -20 | c.*69 others(31): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 3571 | chr1 | TogoVar |