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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPZB_chr1_19333775_19490539 | 19471865 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 a0001c0001t0001g0315 |
2 | 364 | 0.0055 | -12 | c.3+1 others(27): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19472709 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01943.hp1 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0107 a0001c0001t0004g0108 |
2 | 364 | 0.0055 | -12 | c.3+1 others(27): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19475466 | TCACGGCT others(5): Show |
T | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 364 | 0.0028 | -12 | c.3+9 others(25): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19476168 | GTAGATAG others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(86): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0027 others(86): Show |
89 | 364 | 0.2445 | -12 | c.3+9 others(25): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CARD10_chr22_37485362_37524415 | 37510301 | GCTCCTTC others(5): Show |
G | conservative_inframe_deletion | MODERATE | HG00621.hp1 | a0007 | a0007c0056 | a0007c0056t0002 | a0007c0056t0002g0153 | 1 | 276 | 0.0036 | -12 | c.808 others(19): Show |
p.Lys others(13): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 4/20 | 1034/4111 | 808/3099 | 270/1032 | chr22 | TogoVar | |||
CARD11_chr7_2901142_3048867 | 2905378 | GAATCTGG others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 322 | 0.0031 | -12 | c.*12 others(23): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 763 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2912719 | TATCCATC others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(137): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(39): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0025 others(137): Show |
140 | 322 | 0.4348 | -12 | c.302 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 22/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2912783 | TATCCATC others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01192.hp1 HG03041.hp1 others(1): Show |
a0001a0007 | a0001c0002a0001c0012a0007c0046 | a0001c0002t0001a0001c0012t0001a0007c0046t0001 | a0001c0002t0001g0225 a0001c0012t0001g0015 a0001c0012t0001g0049 others(1): Show |
4 | 322 | 0.0124 | -12 | c.301 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 22/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2920595 | CTATCGTC others(5): Show |
C | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0140 | 1 | 322 | 0.0031 | -12 | c.227 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2920600 | GTCTATCT others(5): Show |
G | intron_variant | MODIFIER | HG02976.hp1 NA18939.hp2 NA18999.hp2 |
a0001 | a0001c0001a0001c0015a0001c0020 | a0001c0001t0001a0001c0015t0001a0001c0020t0013 | a0001c0001t0001g0038 a0001c0015t0001g0185 a0001c0020t0013g0051 |
3 | 322 | 0.0093 | -12 | c.227 others(30): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2920692 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG03490.hp2 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0112 a0001c0002t0001g0129 |
2 | 322 | 0.0062 | -12 | c.227 others(31): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2920802 | TTCTATCT others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 322 | 0.0031 | -12 | c.227 others(31): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2920838 | ATCTATCT others(5): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG02004.hp2 HG02145.hp1 others(13): Show |
a0001a0013a0017 | a0001c0002a0001c0005a0001c0006others(7): Show | a0001c0002t0001a0001c0005t0001a0001c0006t0001others(7): Show | a0001c0002t0001g0066 a0001c0002t0001g0108 a0001c0002t0001g0187 others(13): Show |
16 | 322 | 0.0497 | -12 | c.227 others(31): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2926889 | GCTTCCGA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(7): Show |
a0001 | a0001c0001a0001c0007a0001c0012 | a0001c0001t0001a0001c0007t0001a0001c0012t0002 | a0001c0001t0001g0166 a0001c0007t0001g0091 a0001c0007t0001g0092 others(7): Show |
10 | 322 | 0.0311 | -12 | c.175 others(28): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 13/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2933658 | ATCTTTCT others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00673.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0077 a0001c0001t0001g0102 a0001c0001t0001g0112 others(18): Show |
21 | 322 | 0.0652 | -12 | c.151 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2942372 | TCCTTCCT others(5): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02922.hp2 HG03209.hp2 others(1): Show |
a0001a0013 | a0001c0002a0013c0057 | a0001c0002t0001a0013c0057t0002 | a0001c0002t0001g0066 a0001c0002t0001g0108 a0001c0002t0001g0194 others(1): Show |
4 | 322 | 0.0124 | -12 | c.684 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 5/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2942493 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG02738.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0102 a0001c0001t0001g0286 |
3 | 322 | 0.0093 | -12 | c.684 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 5/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2951532 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0129 | 1 | 322 | 0.0031 | -12 | c.8-3 others(25): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 2/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2969117 | CTCATTCA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00735.hp1 others(8): Show |
a0001a0012 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(4): Show | a0001c0001t0001g0166 a0001c0001t0001g0253 a0001c0001t0004g0106 others(8): Show |
11 | 322 | 0.0342 | -12 | c.-12 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2969622 | CCACTCAT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(48): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0015others(16): Show | a0001c0001t0001g0042 a0001c0001t0001g0119 a0001c0001t0001g0158 others(48): Show |
51 | 322 | 0.1584 | -12 | c.-12 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2970290 | ACATCCAC others(5): Show |
A | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 322 | 0.0031 | -12 | c.-12 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2970399 | ATCACTCA others(5): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02886.hp2 HG06807.hp2 |
a0001a0010 | a0001c0011a0001c0039a0010c0030 | a0001c0011t0001a0001c0039t0001a0010c0030t0001 | a0001c0011t0001g0107 a0001c0039t0001g0313 a0010c0030t0001g0284 |
3 | 322 | 0.0093 | -12 | c.-12 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2970704 | TGCTCACT others(5): Show |
T | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 322 | 0.0031 | -12 | c.-12 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 3040333 | TTTGTTTT others(5): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02280.hp2 HG02630.hp2 others(5): Show |
a0001a0010 | a0001c0002a0001c0003a0001c0006others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0006t0001others(5): Show | a0001c0002t0001g0187 a0001c0003t0001g0274 a0001c0006t0001g0259 others(5): Show |
8 | 322 | 0.0248 | -12 | c.-12 others(31): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD14_chr17_80165030_80214331 | 80171173 | TCCTCCCT others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG01070.hp1 others(34): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0012a0001c0051others(12): Show | a0001c0001t0002a0001c0012t0001a0001c0051t0001others(13): Show | a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0271 others(34): Show |
37 | 376 | 0.0984 | -12 | c.-69 others(31): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80171205 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0155 | 1 | 376 | 0.0027 | -12 | c.-69 others(31): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80175952 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02027.hp2 HG03195.hp1 HG03453.hp2 others(11): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0068a0004c0004others(6): Show | a0001c0001t0002a0003c0068t0001a0004c0004t0001others(6): Show | a0001c0001t0002g0271 a0001c0001t0002g0363 a0003c0068t0001g0253 others(11): Show |
14 | 376 | 0.0372 | -12 | c.-36 others(31): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80180756 | TTGTTTGT others(5): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG03942.hp2 NA19003.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0003c0006t0002 | a0001c0001t0002g0096 a0001c0001t0002g0114 a0003c0006t0002g0120 |
3 | 376 | 0.0080 | -12 | c.-20 others(27): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD16_chr11_105036563_105050335 | 105040324 | TATTTTTT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 452 | 0.0022 | -12 | c.*14 others(23): Show |
CARD16 | ENSG00000204397.10 | transcript | ENST00000673097.2 | protein_coding | 1238 | chr11 | TogoVar | |||||||
CARD18_chr11_105132714_105144769 | 105144372 | GATATATA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02922.hp2 HG04115.hp1 NA18906.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
15 | 432 | 0.0347 | -12 | c.-46 others(23): Show |
CARD18 | ENSG00000255501.3 | transcript | ENST00000530950.2 | protein_coding | 4604 | chr11 | TogoVar | |||||||
CARD19_chr9_93091217_93118283 | 93113511 | CCACACAC others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(146): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0004a0006c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0127 others(71): Show |
149 | 358 | 0.4162 | -12 | c.*40 others(21): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 229 | chr9 | TogoVar | |||||||
CARD8_chr19_48203086_48260912 | 48214769 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02071.hp2 HG03130.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0013a0001c0003t0065a0001c0010t0001others(3): Show | a0001c0002t0013g0220 a0001c0003t0065g0328 a0001c0010t0001g0084 others(5): Show |
8 | 362 | 0.0221 | -12 | c.134 others(29): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 13/13 | chr19 | TogoVar | |||||||
CARF_chr2_202907275_202993263 | 202943587 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02809.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0164 |
2 | 334 | 0.0060 | -12 | c.306 others(27): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202943619 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0013 | a0003c0013t0119 | a0003c0013t0119g0010 | 1 | 334 | 0.0030 | -12 | c.306 others(27): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202949516 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG02451.hp2 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009 | a0001c0001t0002g0125 a0001c0001t0007g0031 a0001c0001t0009g0179 |
3 | 334 | 0.0090 | -12 | c.307 others(29): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202972674 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02602.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0088 | a0001c0001t0014g0113 a0001c0001t0088g0065 |
2 | 334 | 0.0060 | -12 | c.133 others(29): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202980616 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02083.hp2 NA18984.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0002a0001c0001t0028a0003c0009t0016others(1): Show | a0001c0001t0002g0005 a0001c0001t0002g0087 a0001c0001t0002g0129 others(4): Show |
8 | 334 | 0.0240 | -12 | c.155 others(29): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202986867 | CGTATATA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 | a0003 | a0003c0003 | a0003c0003t0115 | a0003c0003t0115g0018 | 1 | 334 | 0.0030 | -12 | c.*32 others(23): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3244 | chr2 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8851977 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02818.hp1 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0030 | a0001c0002t0008g0182 a0001c0002t0030g0261 |
2 | 470 | 0.0043 | -12 | c.*31 others(23): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8857263 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02004.hp1 HG02257.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0038a0001c0001t0040 | a0001c0001t0001g0179 a0001c0001t0001g0340 a0001c0001t0001g0396 others(2): Show |
5 | 470 | 0.0106 | -12 | c.281 others(29): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8861158 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02486.hp1 HG02647.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0340 a0001c0001t0002g0200 a0001c0001t0002g0414 others(12): Show |
15 | 470 | 0.0319 | -12 | c.-7- others(27): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8861989 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01346.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0045 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0349 others(1): Show |
4 | 470 | 0.0085 | -12 | c.-7- others(27): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CARM1_chr19_10866553_10928075 | 10871583 | AGCGGCAG others(5): Show |
A | 5_prime_UTR_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0169 | 1 | 354 | 0.0028 | -12 | c.-11 others(21): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 103 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10871589 | AGCGGCGG others(5): Show |
A | 5_prime_UTR_variant | MODIFIER | HG03139.hp2 NA18970.hp1 NA18981.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0156 a0001c0001t0016g0191 a0001c0001t0016g0226 others(1): Show |
4 | 354 | 0.0113 | -12 | c.-75 others(19): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 64 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10871628 | GGCGGCGG others(5): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(84): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(82): Show |
87 | 354 | 0.2458 | -12 | c.-63 others(19): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 52 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10873624 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02080.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0028 a0001c0001t0011g0027 |
2 | 354 | 0.0057 | -12 | c.220 others(29): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25274451 | TTCTCTCT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01361.hp1 HG02486.hp2 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0003a0001c0002t0008a0001c0003t0004others(6): Show | a0001c0002t0003g0017 a0001c0002t0008g0026 a0001c0003t0004g0022 others(6): Show |
9 | 186 | 0.0484 | -12 | c.-53 others(23): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 4922 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25281115 | CGCACGCG others(5): Show |
C | intron_variant | MODIFIER | HG00597.hp2 | a0003 | a0003c0010 | a0003c0010t0003 | a0003c0010t0003g0132 | 1 | 186 | 0.0054 | -12 | c.40+ others(27): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25392054 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0045 | 1 | 186 | 0.0054 | -12 | c.139 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25459210 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0031a0002c0005 | a0001c0031t0004a0002c0005t0003a0002c0005t0007others(1): Show | a0001c0031t0004g0004 a0002c0005t0003g0028 a0002c0005t0007g0172 others(2): Show |
5 | 186 | 0.0269 | -12 | c.615 others(29): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |