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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPN2_chr3_194334768_194356328 | 194349778 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01123.hp1 HG01261.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0001a0003c0003others(2): Show | a0001c0002t0003a0001c0002t0005a0002c0001t0001others(3): Show | a0001c0002t0003g0002 a0001c0002t0005g0010 a0002c0001t0001g0001 others(5): Show |
16 | 71 | 0.2254 | -9 | c.-4+ others(24): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
CPNE3_chr8_86509435_86566498 | 86533878 | CTCCCTCC others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01167.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0017a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0027 others(40): Show |
43 | 338 | 0.1272 | -9 | c.459 others(26): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131547455 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01169.hp2 HG02622.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0048 a0001c0001t0002g0074 a0001c0001t0002g0076 others(7): Show |
10 | 35 | 0.2857 | -9 | c.130 others(28): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 14/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131676029 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0059 a0001c0001t0003g0020 others(9): Show |
12 | 19 | 0.6316 | -9 | c.592 others(26): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131848956 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 others(14): Show |
17 | 39 | 0.4359 | -9 | c.180 others(28): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131999241 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0026 others(13): Show |
16 | 25 | 0.6400 | -9 | c.-2+ others(26): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89594642 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG02080.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0005others(4): Show | a0001c0001t0001g0067 a0001c0002t0004g0215 a0001c0002t0004g0320 others(16): Show |
19 | 121 | 0.1570 | -9 | c.130 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89597158 | TGGGGTCT others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02723.hp2 others(10): Show |
a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0006 a0001c0007t0006g0068 a0001c0007t0006g0075 others(9): Show |
13 | 281 | 0.0463 | -9 | c.*55 others(18): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 15/15 | 556 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE9_chr3_9698833_9734908 | 9714639 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01081.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0128 a0001c0001t0001g0189 others(5): Show |
8 | 57 | 0.1404 | -9 | c.651 others(24): Show |
CPNE9 | ENSG00000144550.14 | transcript | ENST00000383832.8 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CPPED1_chr16_12654799_12808887 | 12709905 | GGGGAAGG others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(194): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(82): Show | a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0164 others(194): Show |
197 | 288 | 0.6840 | -9 | c.290 others(26): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12740084 | AAAGGAAA others(2): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp1 HG02683.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0048a0002c0002t0001others(1): Show | a0001c0001t0003g0205 a0001c0001t0048g0192 a0002c0002t0001g0020 others(1): Show |
5 | 269 | 0.0186 | -9 | c.290 others(28): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12766444 | AGAGAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG01175.hp2 others(39): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0165 others(38): Show |
42 | 288 | 0.1458 | -9 | c.289 others(28): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 96757354 | GATAATAA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00733.hp1 others(46): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 others(46): Show |
49 | 71 | 0.6901 | -9 | c.-34 others(28): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96926570 | CTCTTCCT others(2): Show |
C | intron_variant | MODIFIER | HG01975.hp2 HG01981.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0103 |
3 | 111 | 0.0270 | -9 | c.850 others(28): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96991553 | CATAATAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01081.hp2 others(34): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 others(34): Show |
37 | 55 | 0.6727 | -9 | c.961 others(28): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 97122981 | TTAAAATA others(2): Show |
T | intron_variant | MODIFIER | NA19012.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0112 |
2 | 68 | 0.0294 | -9 | c.125 others(30): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | chr8 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 97123115 | AAAATAAA others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG03195.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0120 a0002c0003t0001g0053 |
2 | 124 | 0.0161 | -9 | c.125 others(30): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPSF6_chr12_69234569_69279358 | 69249092 | CTACAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02056.hp2 NA18971.hp2 NA18979.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0044others(2): Show | a0001c0001t0002g0166 a0001c0001t0009g0011 a0001c0001t0009g0049 others(4): Show |
10 | 390 | 0.0256 | -9 | c.61- others(24): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CPSF7_chr11_61397729_61434975 | 61427026 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0111 a0001c0001t0001g0112 others(2): Show |
6 | 130 | 0.0462 | -9 | c.54+ others(24): Show |
CPSF7 | ENSG00000149532.16 | transcript | ENST00000439958.8 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
CPTP_chr1_1319802_1333896 | 1322952 | TGAAAGAT others(2): Show |
T | upstream_gene_variant | MODIFIER | NA18954.hp1 NA18983.hp2 NA18994.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 376 | 0.0133 | -9 | c.-22 others(20): Show |
CPTP | ENSG00000224051.7 | transcript | ENST00000343938.9 | protein_coding | 1849 | chr1 | TogoVar | |||||||
CPVL_chr7_28990235_29151537 | 29123625 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02922.hp2 others(4): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0002t0002a0001c0008t0001 | a0001c0002t0001g0110 a0001c0002t0002g0105 a0001c0002t0002g0111 others(4): Show |
7 | 277 | 0.0253 | -9 | c.-10 others(26): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
CPXCR1_chrX_88742225_88759781 | 88743357 | TCAAAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG03486.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 4 | 302 | 0.0132 | -9 | c.-41 others(20): Show |
CPXCR1 | ENSG00000147183.10 | transcript | ENST00000276127.9 | protein_coding | 3867 | chrX | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123819080 | GCTTTGGG others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(68): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0043 others(68): Show |
71 | 286 | 0.2483 | -9 | c.654 others(28): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 4/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123875790 | GTTTCTTT others(2): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG03490.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0004t0001others(1): Show | a0001c0001t0002g0042 a0001c0002t0002g0046 a0001c0004t0001g0048 others(1): Show |
4 | 286 | 0.0140 | -9 | c.403 others(26): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123895103 | TTTTTTTT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00642.hp2 others(39): Show |
a0001a0004a0014 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0090 others(39): Show |
42 | 286 | 0.1469 | -9 | c.-34 others(20): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 3297 | chr10 | TogoVar | |||||||
CPZ_chr4_8587765_8624752 | 8622801 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01243.hp1 others(31): Show |
a0001a0002a0015others(1): Show | a0001c0001a0001c0037a0002c0004others(2): Show | a0001c0001t0001a0001c0037t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 others(20): Show |
34 | 122 | 0.2787 | -9 | c.*31 others(20): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 3050 | chr4 | TogoVar | |||||||
CR1_chr1_207491157_207646765 | 207541487 | AAGTTAGC others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG02040.hp2 others(38): Show |
a0003a0004a0031others(1): Show | a0003c0003a0003c0013a0003c0027others(5): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(9): Show | a0003c0003t0001g0109 a0003c0003t0001g0342 a0003c0003t0002g0096 others(37): Show |
41 | 358 | 0.1145 | -9 | c.183 others(26): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRABP2_chr1_156694606_156710583 | 156695416 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01928.hp2 HG02074.hp2 NA18946.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0005g0033 |
7 | 17 | 0.4118 | -9 | c.*46 others(20): Show |
CRABP2 | ENSG00000143320.9 | transcript | ENST00000368222.8 | protein_coding | 4189 | chr1 | TogoVar | |||||||
CRACDL_chr2_98788846_98941225 | 98866472 | CTTCTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp2 HG03669.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0265 others(3): Show |
6 | 219 | 0.0274 | -9 | c.-10 others(28): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CRADD_chr12_93672375_93855756 | 93697593 | TAATAAGT others(2): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01109.hp2 others(56): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(56): Show |
59 | 246 | 0.2398 | -9 | c.298 others(28): Show |
CRADD | ENSG00000169372.13 | transcript | ENST00000332896.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CRADD_chr12_93672375_93855756 | 93783228 | GTATTATT others(2): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02559.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0040 others(15): Show |
18 | 67 | 0.2687 | -9 | c.299 others(28): Show |
CRADD | ENSG00000169372.13 | transcript | ENST00000332896.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CRB1_chr1_197263252_197483455 | 197404441 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02622.hp1 HG02630.hp2 others(6): Show |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0001a0006c0010t0001 | a0001c0002t0001g0061 a0001c0002t0001g0065 a0001c0002t0001g0068 others(6): Show |
9 | 87 | 0.1034 | -9 | c.117 others(30): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRB3_chr19_6459271_6472221 | 6461233 | GTTTTTTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01109.hp2 others(18): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0021 others(1): Show |
21 | 36 | 0.5833 | -9 | c.-32 others(20): Show |
CRB3 | ENSG00000130545.16 | transcript | ENST00000600229.6 | protein_coding | 3037 | chr19 | TogoVar | |||||||
CRBN_chr3_3145011_3184691 | 3162694 | ACTTTAAG others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG02615.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0059 a0001c0001t0009g0140 a0001c0001t0009g0141 others(1): Show |
4 | 374 | 0.0107 | -9 | c.687 others(26): Show |
CRBN | ENSG00000113851.16 | transcript | ENST00000231948.9 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
CRCP_chr7_66109847_66159568 | 66121034 | CATAATAA others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0029 | a0001c0001t0001g0182 a0001c0001t0010g0138 a0001c0001t0010g0139 others(2): Show |
5 | 15 | 0.3333 | -9 | c.8+6 others(22): Show |
CRCP | ENSG00000241258.7 | transcript | ENST00000395326.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB3L1_chr11_46272662_46326409 | 46302168 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp1 HG01109.hp1 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0233 a0001c0001t0002g0061 a0001c0001t0002g0062 others(18): Show |
28 | 94 | 0.2979 | -9 | c.331 others(26): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137979728 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp1 HG01891.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(23): Show | a0001c0001t0001g0186 a0001c0001t0001g0246 a0001c0001t0001g0281 others(32): Show |
36 | 48 | 0.7500 | -9 | c.102 others(28): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CREB5_chr7_28407518_28830894 | 28421858 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(156): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 others(156): Show |
159 | 195 | 0.8154 | -9 | c.3+8 others(22): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28475250 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02155.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0097 a0001c0001t0002g0008 a0001c0001t0011g0197 others(2): Show |
5 | 10 | 0.5000 | -9 | c.4-1 others(24): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28511207 | TGGTCAGG others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG00735.hp2 others(58): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 others(58): Show |
61 | 196 | 0.3112 | -9 | c.291 others(26): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28551846 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | NA18945.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0074 a0001c0001t0003g0014 |
2 | 196 | 0.0102 | -9 | c.292 others(28): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
CREB5_chr7_28407518_28830894 | 28590672 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01069.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0048 others(35): Show |
38 | 111 | 0.3423 | -9 | c.464 others(28): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3768136 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01081.hp1 HG01891.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(4): Show | a0001c0001t0001g0091 a0001c0001t0002g0147 a0001c0001t0025g0280 others(8): Show |
11 | 40 | 0.2750 | -9 | c.306 others(26): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 15/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3802114 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01496.hp1 HG01516.hp1 others(5): Show |
a0001 | a0001c0001a0001c0029 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0156 a0001c0001t0001g0178 others(5): Show |
8 | 41 | 0.1951 | -9 | c.975 others(26): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 3/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849439 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | NA18747.hp2 NA18950.hp2 NA19006.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0003t0002 | a0001c0001t0002g0043 a0001c0001t0005g0279 a0001c0003t0002g0188 others(1): Show |
4 | 267 | 0.0150 | -9 | c.798 others(24): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849445 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG01952.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0022 | a0001c0001t0001g0118 a0001c0001t0005g0278 a0001c0001t0022g0109 |
3 | 278 | 0.0108 | -9 | c.798 others(24): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBL2_chr12_12606876_12650108 | 12647198 | AAAAAAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(96): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(7): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 others(77): Show |
99 | 370 | 0.2676 | -9 | c.*52 others(20): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 2091 | chr12 | TogoVar | |||||||
CREBRF_chr5_173051352_173144284 | 173082908 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00639.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0010 | a0001c0001t0002g0002 a0001c0001t0002g0184 a0001c0001t0002g0211 others(34): Show |
38 | 51 | 0.7451 | -9 | c.9+2 others(22): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CREBRF_chr5_173051352_173144284 | 173096454 | CCCCTCTC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(104): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0184 a0001c0001t0002g0185 others(103): Show |
107 | 290 | 0.3690 | -9 | c.122 others(28): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CREBRF_chr5_173051352_173144284 | 173122569 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG03669.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019 | a0001c0001t0001g0091 a0001c0001t0003g0048 a0001c0001t0019g0259 |
3 | 155 | 0.0194 | -9 | c.168 others(26): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |