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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRACDL_chr2_98788846_98941225 | 98795077 | A | ATATTTTT others(16): Show |
intron_variant | MODIFIER | NA19077.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0255 |
2 | 52 | 0.0385 | 23 | c.275 others(40): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 9/9 | chr2 | TogoVar | |||||||
CRACDL_chr2_98788846_98941225 | 98795077 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 51 | 0.0196 | 23 | c.275 others(40): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 9/9 | chr2 | TogoVar | |||||||
CRACDL_chr2_98788846_98941225 | 98889285 | G | GAGAAGAA others(16): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0146 | 1 | 53 | 0.0189 | 23 | c.-10 others(42): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CRACR2A_chr12_3610328_3758109 | 3621648 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01952.hp1 HG01981.hp2 others(6): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0009c0010others(1): Show | a0001c0001t0001a0002c0002t0001a0009c0010t0001others(1): Show | a0001c0001t0001g0124 a0002c0002t0001g0079 a0002c0002t0001g0116 others(6): Show |
9 | 30 | 0.3000 | 23 | c.193 others(42): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 17/19 | chr12 | TogoVar | |||||||
CRB1_chr1_197263252_197483455 | 197404441 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 79 | 0.0127 | 23 | c.117 others(44): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRBN_chr3_3145011_3184691 | 3181983 | T | TATATATA others(16): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0046 | 1 | 372 | 0.0027 | 23 | c.-22 others(34): Show |
CRBN | ENSG00000113851.16 | transcript | ENST00000231948.9 | protein_coding | 2293 | chr3 | TogoVar | |||||||
CRBN_chr3_3145011_3184691 | 3181984 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0104 |
2 | 355 | 0.0056 | 23 | c.-22 others(34): Show |
CRBN | ENSG00000113851.16 | transcript | ENST00000231948.9 | protein_coding | 2294 | chr3 | TogoVar | |||||||
CRCP_chr7_66109847_66159568 | 66150354 | G | GAAACTCT others(16): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01928.hp1 HG01934.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0026 | a0001c0001t0006g0003 a0001c0001t0006g0093 a0001c0001t0006g0094 others(24): Show |
29 | 133 | 0.2180 | 23 | c.298 others(40): Show |
CRCP | ENSG00000241258.7 | transcript | ENST00000395326.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3759588 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03017.hp2 NA18522.hp1 NA18988.hp1 others(1): Show |
a0001a0004 | a0001c0002a0004c0010 | a0001c0002t0003a0001c0002t0020a0001c0002t0027others(1): Show | a0001c0002t0003g0239 a0001c0002t0020g0209 a0001c0002t0027g0285 others(1): Show |
4 | 215 | 0.0186 | 23 | c.325 others(40): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 16/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3768136 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0215 | 1 | 30 | 0.0333 | 23 | c.306 others(40): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 15/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849448 | T | TGTGTGTG others(16): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0053 | 1 | 280 | 0.0036 | 23 | c.798 others(38): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBZF_chr11_85652990_85670129 | 85669001 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 6 | 0.1667 | 23 | c.-41 others(34): Show |
CREBZF | ENSG00000137504.15 | transcript | ENST00000527447.2 | protein_coding | 3873 | chr11 | TogoVar | |||||||
CRELD2_chr22_49913634_49932537 | 49919002 | T | TTCGGGGT others(16): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0163 |
3 | 322 | 0.0093 | 23 | c.129 others(38): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
CRELD2_chr22_49913634_49932537 | 49919026 | T | TCGGGGTC others(16): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG01243.hp2 others(31): Show |
a0001a0003a0004 | a0001c0003a0001c0007a0001c0016others(4): Show | a0001c0003t0002a0001c0007t0002a0001c0016t0002others(6): Show | a0001c0003t0002g0008 a0001c0003t0002g0116 a0001c0003t0002g0117 others(25): Show |
34 | 267 | 0.1273 | 23 | c.129 others(38): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49919026 | T | TCGGGGTC others(16): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01123.hp1 others(21): Show |
a0003 | a0003c0004a0003c0017 | a0003c0004t0002a0003c0004t0007a0003c0004t0009others(1): Show | a0003c0004t0002g0003 a0003c0004t0002g0031 a0003c0004t0002g0032 others(10): Show |
24 | 257 | 0.0934 | 23 | c.129 others(38): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRIM1_chr2_36350778_36556135 | 36448644 | T | TTATTAAG others(16): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(206): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(93): Show | a0001c0001t0001g0080 a0001c0001t0001g0139 a0001c0001t0001g0259 others(205): Show |
209 | 322 | 0.6491 | 23 | c.869 others(40): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRISP2_chr6_49687359_49718543 | 49697404 | G | GTGTGTGT others(16): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0079 | 1 | 395 | 0.0025 | 23 | c.515 others(38): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 8/9 | chr6 | TogoVar | |||||||
CRKL_chr22_20912407_20958747 | 20927192 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18970.hp2 NA19088.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0003 a0001c0002t0001g0144 |
3 | 54 | 0.0556 | 23 | c.312 others(40): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRK_chr17_1415693_1461232 | 1427030 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18747.hp1 NA18960.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 a0001c0002t0001g0125 a0001c0002t0001g0128 |
3 | 36 | 0.0833 | 23 | c.778 others(40): Show |
CRK | ENSG00000167193.8 | transcript | ENST00000300574.3 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1191361 | C | CTTTCTTT others(16): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01517.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0012a0004c0032 | a0001c0001t0001a0004c0012t0004a0004c0032t0004 | a0001c0001t0001g0086 a0004c0012t0004g0054 a0004c0012t0004g0096 others(1): Show |
4 | 113 | 0.0354 | 23 | c.853 others(38): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 7/7 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1212892 | T | TCCCTCCC others(16): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG01975.hp2 HG02056.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0024 a0001c0001t0001g0078 a0001c0001t0001g0080 others(24): Show |
27 | 164 | 0.1646 | 23 | c.-25 others(32): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 244 | chrX | TogoVar | |||||||
CRLS1_chr20_6001123_6045053 | 6011572 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01993.hp2 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0302 |
3 | 32 | 0.0938 | 23 | c.444 others(40): Show |
CRLS1 | ENSG00000088766.12 | transcript | ENST00000378863.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16116675 | A | AAAGGAAA others(16): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18991.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0034a0001c0001t0045a0002c0002t0047 | a0001c0001t0034g0033 a0001c0001t0045g0003 a0002c0002t0047g0215 |
3 | 62 | 0.0484 | 23 | c.125 others(44): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 9/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16209273 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02698.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0044 | a0001c0001t0004g0117 a0002c0002t0044g0005 |
2 | 118 | 0.0169 | 23 | c.125 others(42): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 9/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16303477 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01975.hp2 HG02135.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0126 a0001c0001t0002g0173 a0001c0001t0007g0032 others(7): Show |
10 | 96 | 0.1042 | 23 | c.790 others(40): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 4/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16303493 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0286 | 1 | 288 | 0.0035 | 23 | c.790 others(40): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 4/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16389922 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03540.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0030 | a0001c0001t0024g0146 a0001c0001t0030g0129 |
2 | 270 | 0.0074 | 23 | c.535 others(42): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02965.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0066 | a0001c0001t0039g0020 a0001c0001t0066g0021 |
2 | 113 | 0.0177 | 23 | c.535 others(42): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAT others(16): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0051 | 1 | 112 | 0.0089 | 23 | c.535 others(42): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRTAC1_chr10_97860000_98035621 | 98005100 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 65 | 0.0154 | 23 | c.224 others(40): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18728815 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0014 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0042 others(27): Show |
30 | 120 | 0.2500 | 23 | c.127 others(42): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18786763 | C | CTTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | NA18940.hp2 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0148 | 1 | 49 | 0.0204 | 23 | c.*93 others(34): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 4431 | chr19 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90630756 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02080.hp2 HG03239.hp1 |
a0001a0003 | a0001c0006a0003c0003 | a0001c0006t0003a0003c0003t0001 | a0001c0006t0003g0148 a0003c0003t0001g0242 |
2 | 179 | 0.0112 | 23 | c.126 others(42): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CRY2_chr11_45842475_45888244 | 45844931 | T | TAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 | 1 | 306 | 0.0033 | 23 | c.-25 others(34): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 2543 | chr11 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43172123 | C | CCAACGTG others(16): Show |
frameshift_variant | HIGH | HG00609.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0003 | 1 | 40 | 0.0250 | 23 | c.367 others(30): Show |
p.Cys others(5): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 482/1139 | 390/522 | 130/173 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
CRYBA4_chr22_26616963_26635669 | 26624168 | A | AAAGATGT others(16): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 400 | 0.0025 | 23 | c.158 others(38): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627351 | C | CCCTCCCT others(16): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 400 | 0.0025 | 23 | c.301 others(38): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106361970 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03130.hp2 NA20300.hp1 |
a0007a0010a0068 | a0007c0007a0010c0012a0068c0043 | a0007c0007t0003a0010c0012t0002a0068c0043t0013 | a0007c0007t0003g0207 a0010c0012t0002g0224 a0068c0043t0013g0210 |
3 | 226 | 0.0133 | 23 | c.173 others(38): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106422344 | A | ATTTATTT others(16): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 100 | 0.0100 | 23 | c.174 others(42): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106422344 | A | ATTTATTT others(16): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18945.hp1 |
a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0136 a0005c0006t0003g0137 |
2 | 101 | 0.0198 | 23 | c.174 others(42): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106483401 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067 | 1 | 225 | 0.0044 | 23 | c.313 others(42): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYGB_chr2_208137573_208151158 | 208151013 | A | AAGAGGTT others(16): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012 | 1 | 412 | 0.0024 | 23 | c.-48 others(34): Show |
CRYGB | ENSG00000182187.4 | transcript | ENST00000260988.5 | protein_coding | 4856 | chr2 | TogoVar | |||||||
CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02976.hp1 HG03453.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(2): Show | a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0001t0014g0118 others(2): Show |
6 | 193 | 0.0311 | 23 | c.*17 others(34): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | |||||||
CRYZL1_chr21_33584341_33646741 | 33588730 | C | CCCGCCCC others(16): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0347 | 1 | 358 | 0.0028 | 23 | c.*10 others(34): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 610 | chr21 | TogoVar | |||||||
CRYZL1_chr21_33584341_33646741 | 33605530 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01884.hp1 HG02056.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0080 a0001c0001t0001g0155 a0001c0001t0001g0164 others(17): Show |
20 | 22 | 0.9091 | 23 | c.332 others(40): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 6/12 | chr21 | TogoVar | |||||||
CSE1L_chr20_49041312_49101949 | 49065313 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01981.hp2 HG02735.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0035 others(4): Show |
7 | 262 | 0.0267 | 23 | c.229 others(38): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1297747 | A | ACACTCTC others(16): Show |
intron_variant | MODIFIER | HG02572.hp2 HG04184.hp1 |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0003a0004c0010t0003 | a0001c0001t0003g0060 a0004c0010t0003g0159 |
2 | 136 | 0.0147 | 23 | c.810 others(40): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1297747 | A | ACAGTCCC others(16): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01070.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0064 a0001c0001t0001g0096 a0001c0001t0001g0097 others(17): Show |
20 | 154 | 0.1299 | 23 | c.810 others(40): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1298077 | A | ACAGTCCC others(16): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG01175.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 others(22): Show |
25 | 155 | 0.1613 | 23 | c.811 others(40): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1298077 | A | ACAGTCTC others(16): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 131 | 0.0076 | 23 | c.811 others(40): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | chrX | TogoVar |