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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL13A1_chr10_69796906_69964144 | 69810376 | G | GAGAGAGA others(45): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01257.hp1 HG02300.hp2 others(3): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0002g0087 others(3): Show |
6 | 324 | 0.0185 | 52 | c.294 others(69): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098598 | T | TATATAAA others(45): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02886.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0064 a0001c0001t0003g0085 a0001c0001t0008g0058 others(1): Show |
4 | 264 | 0.0152 | 52 | c.181 others(71): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138676454 | A | AAAGAAAG others(45): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02738.hp2 HG03041.hp1 |
a0001a0002 | a0001c0001a0001c0006a0002c0011 | a0001c0001t0001a0001c0006t0001a0002c0011t0012 | a0001c0001t0001g0080 a0001c0006t0001g0060 a0002c0011t0012g0139 |
3 | 158 | 0.0190 | 52 | c.315 others(69): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG00738.hp1 HG04228.hp2 |
a0002a0003 | a0002c0002a0003c0007 | a0002c0002t0011a0003c0007t0001 | a0002c0002t0011g0038 a0003c0007t0001g0137 |
2 | 236 | 0.0085 | 52 | c.730 others(67): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101434169 | C | CCCTTCCT others(45): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02486.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0002a0001c0001t0009a0001c0005t0012others(1): Show | a0001c0001t0002g0132 a0001c0001t0002g0151 a0001c0001t0009g0152 others(3): Show |
6 | 174 | 0.0345 | 52 | c.282 others(71): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227193887 | G | GGAAGGAA others(45): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03486.hp1 NA19030.hp1 |
a0002a0006a0027 | a0002c0007a0006c0016a0027c0036 | a0002c0007t0010a0006c0016t0006a0027c0036t0011 | a0002c0007t0010g0336 a0006c0016t0006g0267 a0027c0036t0011g0044 |
3 | 344 | 0.0087 | 52 | c.87+ others(69): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227202846 | C | CACATATA others(45): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0168 | 1 | 344 | 0.0029 | 52 | c.88- others(69): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0013 | a0013c0015 | a0013c0015t0002 | a0013c0015t0002g0074 | 1 | 344 | 0.0029 | 52 | c.546 others(67): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | NA19074.hp1 NA19085.hp1 |
a0005a0010 | a0005c0005a0010c0012 | a0005c0005t0001a0010c0012t0001 | a0005c0005t0001g0032 a0010c0012t0001g0261 |
2 | 344 | 0.0058 | 52 | c.546 others(67): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0262 | 1 | 344 | 0.0029 | 52 | c.546 others(67): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 344 | 0.0029 | 52 | c.546 others(67): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041810 | A | AAGAAAGA others(45): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0030 | 1 | 284 | 0.0035 | 52 | c.350 others(69): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134760074 | G | GCACACAC others(45): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0063 | a0001c0063t0002 | a0001c0063t0002g0024 | 1 | 272 | 0.0037 | 52 | c.193 others(71): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134760074 | G | GCACACCC others(45): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00609.hp2 others(57): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(45): Show | a0001c0001t0001g0125 a0001c0001t0005g0119 a0001c0002t0001g0144 others(56): Show |
60 | 272 | 0.2206 | 52 | c.193 others(71): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189094588 | G | GACACACA others(45): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02074.hp1 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0042 a0001c0001t0001g0073 a0001c0001t0001g0088 others(2): Show |
5 | 248 | 0.0202 | 52 | c.457 others(69): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9970476 | G | GGGTGTGT others(45): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(11): Show |
a0014a0025a0061others(1): Show | a0014c0008a0025c0038a0061c0100others(1): Show | a0014c0008t0001a0025c0038t0001a0061c0100t0001others(1): Show | a0014c0008t0001g0044 a0014c0008t0001g0045 a0014c0008t0001g0046 others(11): Show |
14 | 412 | 0.0340 | 52 | c.393 others(69): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 54/66 | chr19 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36270137 | T | TAGAGAGA others(45): Show |
downstream_gene_variant | MODIFIER | NA18994.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 a0001c0001t0003g0045 |
2 | 448 | 0.0045 | 52 | c.*44 others(63): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 2154 | chr11 | TogoVar | |||||||
COPG1_chr3_129244606_129282773 | 129247224 | G | GTATATGT others(45): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0045 | 1 | 326 | 0.0031 | 52 | c.-24 others(63): Show |
COPG1 | ENSG00000181789.14 | transcript | ENST00000314797.10 | protein_coding | 2381 | chr3 | TogoVar | |||||||
COQ8B_chr19_40686530_40721886 | 40702821 | A | ACATCTGT others(45): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0233 | 1 | 410 | 0.0024 | 52 | c.800 others(67): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 9/14 | chr19 | TogoVar | |||||||
CORO2B_chr15_68573993_68732806 | 68697210 | A | ATGGATGG others(45): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0165 a0001c0001t0005g0194 a0001c0001t0017g0251 |
3 | 256 | 0.0117 | 52 | c.333 others(69): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CORT_chr1_10445031_10456998 | 10455699 | T | TTATCCAG others(45): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 428 | 0.0023 | 52 | c.*41 others(63): Show |
CORT | ENSG00000241563.4 | transcript | ENST00000377049.4 | protein_coding | 3702 | chr1 | TogoVar | |||||||
CPE_chr4_165374008_165503547 | 165461186 | A | AAAAAAAA others(45): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 332 | 0.0030 | 52 | c.308 others(69): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 821747 | G | GAGCGATC others(45): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 416 | 0.0024 | 52 | c.31+ others(67): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
CPLX2_chr5_175866578_175889021 | 175871424 | A | AGAGAGAC others(45): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0010 | 1 | 378 | 0.0027 | 52 | c.-37 others(61): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 153 | chr5 | TogoVar | |||||||
CPNE3_chr8_86509435_86566498 | 86524848 | T | TTTTCTTT others(45): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03453.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0010a0001c0008t0002 | a0001c0002t0010g0302 a0001c0008t0002g0297 |
2 | 340 | 0.0059 | 52 | c.-10 others(69): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131792623 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 94 | 0.0106 | 52 | c.181 others(71): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587883 | A | ACCCACAG others(45): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0064 | 1 | 348 | 0.0029 | 52 | c.927 others(67): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588202 | A | ACCCACAG others(45): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 348 | 0.0029 | 52 | c.928 others(67): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588206 | G | GCGTGTCA others(45): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0210 a0001c0002t0002g0338 |
2 | 348 | 0.0058 | 52 | c.928 others(67): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPO_chr2_206934518_206974474 | 206935784 | C | CCCATCCA others(45): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 NA18747.hp1 NA18970.hp2 |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0304 a0001c0004t0001g0031 a0002c0002t0001g0083 |
3 | 422 | 0.0071 | 52 | c.-38 others(63): Show |
CPO | ENSG00000144410.5 | transcript | ENST00000272852.4 | protein_coding | 3733 | chr2 | TogoVar | |||||||
CPO_chr2_206934518_206974474 | 206935784 | C | CCCATCCA others(45): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 NA19076.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0036 a0002c0003t0001g0037 |
2 | 422 | 0.0047 | 52 | c.-38 others(63): Show |
CPO | ENSG00000144410.5 | transcript | ENST00000272852.4 | protein_coding | 3733 | chr2 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 96691006 | T | TCATGTAA others(45): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02723.hp2 others(3): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0028 a0001c0002t0001g0005 a0001c0002t0001g0006 others(3): Show |
6 | 126 | 0.0476 | 52 | c.-35 others(71): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
CPS1_chr2_210551599_210684107 | 210554070 | C | CATATATA others(45): Show |
upstream_gene_variant | MODIFIER | NA19072.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0299 | 1 | 340 | 0.0029 | 52 | c.-26 others(63): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2528 | chr2 | TogoVar | |||||||
CPSF4_chr7_99433943_99462373 | 99440674 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 a0001c0001t0002g0033 |
2 | 364 | 0.0055 | 52 | c.103 others(69): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8605634 | T | TATCCATC others(45): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0008others(3): Show | a0001c0001t0001a0001c0012t0002a0002c0008t0002others(3): Show | a0001c0001t0001g0222 a0001c0012t0002g0223 a0001c0012t0002g0224 others(7): Show |
12 | 442 | 0.0272 | 52 | c.710 others(67): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8609050 | C | CACCCATT others(45): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0002 | a0004c0002t0004 | a0004c0002t0004g0208 | 1 | 442 | 0.0023 | 52 | c.122 others(71): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 7/10 | chr4 | TogoVar | |||||||
CRACD_chr4_56044098_56335609 | 56214679 | C | CTTTCTCT others(45): Show |
intron_variant | MODIFIER | HG01358.hp2 HG04115.hp1 |
a0003 | a0003c0003a0003c0008 | a0003c0003t0001a0003c0008t0002 | a0003c0003t0001g0027 a0003c0008t0002g0193 |
2 | 250 | 0.0080 | 52 | c.-18 others(73): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRACD_chr4_56044098_56335609 | 56214679 | C | CTTTCTCT others(45): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02132.hp1 HG02698.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0023 a0001c0001t0003g0022 a0002c0002t0002g0081 others(2): Show |
5 | 250 | 0.0200 | 52 | c.-18 others(73): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRACD_chr4_56044098_56335609 | 56214679 | C | CTTTCTCT others(45): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02056.hp1 NA20752.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0034a0002c0002t0002a0003c0008t0002 | a0001c0001t0034g0090 a0002c0002t0002g0181 a0003c0008t0002g0068 |
3 | 250 | 0.0120 | 52 | c.-18 others(73): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRACD_chr4_56044098_56335609 | 56214679 | C | CTTTCTCT others(45): Show |
intron_variant | MODIFIER | NA19081.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0175 a0001c0001t0005g0115 |
2 | 250 | 0.0080 | 52 | c.-18 others(73): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CREB3L3_chr19_4148631_4178054 | 4163351 | A | AGAAAGAA others(45): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0148 | 1 | 404 | 0.0025 | 52 | c.577 others(69): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CREB3_chr9_35727666_35741999 | 35729949 | G | GGAAGACA others(45): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 52 | c.-28 others(63): Show |
CREB3 | ENSG00000107175.12 | transcript | ENST00000353704.3 | protein_coding | 2716 | chr9 | TogoVar | |||||||
CREB5_chr7_28407518_28830894 | 28560913 | T | TGTGCGTG others(45): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0047 | 1 | 198 | 0.0051 | 52 | c.292 others(69): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28560913 | T | TGTGCGTG others(45): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0105 | 1 | 198 | 0.0051 | 52 | c.292 others(69): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3759588 | C | CAAAAAAA others(45): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03041.hp2 |
a0001 | a0001c0004a0001c0022 | a0001c0004t0006a0001c0022t0006 | a0001c0004t0006g0230 a0001c0022t0006g0229 |
2 | 286 | 0.0070 | 52 | c.325 others(69): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 16/30 | chr16 | TogoVar | |||||||
CRISP1_chr6_49829257_49871535 | 49829435 | T | TGATAAAA others(45): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01071.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0008a0002c0003t0004 | a0001c0001t0008g0062 a0002c0003t0004g0021 a0002c0003t0004g0053 others(3): Show |
7 | 378 | 0.0185 | 52 | c.*58 others(63): Show |
CRISP1 | ENSG00000124812.15 | transcript | ENST00000335847.9 | protein_coding | 4821 | chr6 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1191361 | C | CTTTCCTT others(45): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0154 | 1 | 167 | 0.0060 | 52 | c.853 others(67): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 7/7 | chrX | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240904603 | T | TCACCAAG others(45): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153 | 1 | 350 | 0.0029 | 52 | c.-19 others(63): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1732 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240923560 | C | CCCCCACA others(45): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(66): Show |
a0001a0002a0008others(12): Show | a0001c0002a0001c0011a0001c0012others(18): Show | a0001c0002t0001a0001c0002t0002a0001c0011t0002others(22): Show | a0001c0002t0001g0057 a0001c0002t0001g0083 a0001c0002t0001g0146 others(66): Show |
69 | 350 | 0.1971 | 52 | c.488 others(67): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240923766 | G | GCCCCCAC others(45): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0159 | 1 | 350 | 0.0029 | 52 | c.488 others(69): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |