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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARMIL1_chr6_25274374_25625530 | 25480729 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG06807.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005a0001c0002t0022 | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0105 others(3): Show |
6 | 186 | 0.0323 | -10 | c.875 others(27): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25529755 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG03225.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0033 | a0001c0001t0015a0001c0033t0001 | a0001c0001t0015g0176 a0001c0001t0015g0184 a0001c0033t0001g0124 |
3 | 186 | 0.0161 | -10 | c.206 others(27): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25551183 | ATGTGTTT others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01106.hp1 others(22): Show |
a0001a0003a0004others(2): Show | a0001c0003a0001c0004a0001c0006others(6): Show | a0001c0003t0004a0001c0003t0010a0001c0003t0023others(14): Show | a0001c0003t0004g0092 a0001c0003t0010g0185 a0001c0003t0023g0161 others(22): Show |
25 | 186 | 0.1344 | -10 | c.250 others(26): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 27/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25576314 | AAATTCCC others(3): Show |
A | intron_variant | MODIFIER | HG00673.hp2 NA18979.hp1 NA18998.hp1 |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0003a0003c0010t0003 | a0001c0001t0003g0054 a0001c0001t0003g0064 a0003c0010t0003g0104 |
3 | 186 | 0.0161 | -10 | c.274 others(29): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARNMT1_chr9_74975790_75033293 | 75005827 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01346.hp1 HG01884.hp2 others(24): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0049 a0001c0001t0001g0204 a0001c0001t0002g0021 others(21): Show |
27 | 366 | 0.0738 | -10 | c.591 others(27): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
CARNMT1_chr9_74975790_75033293 | 75032865 | GTGCACCA others(3): Show |
G | upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0231 | 1 | 366 | 0.0027 | -10 | c.-46 others(21): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 4573 | chr9 | TogoVar | |||||||
CARNMT1_chr9_74975790_75033293 | 75032887 | TTTTTTTT others(3): Show |
T | upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0231 | 1 | 366 | 0.0027 | -10 | c.-46 others(21): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 4595 | chr9 | TogoVar | |||||||
CARNS1_chr11_67410678_67430604 | 67427073 | GTTTTTTT others(3): Show |
G | downstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 346 | 0.0029 | -10 | c.*24 others(21): Show |
CARNS1 | ENSG00000172508.11 | transcript | ENST00000687366.1 | protein_coding | 1470 | chr11 | TogoVar | |||||||
CARS1_chr11_2995929_3062423 | 3007734 | TCTGTGGC others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(105): Show |
a0001a0011 | a0001c0001a0001c0010a0011c0016 | a0001c0001t0001a0001c0010t0001a0011c0016t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(94): Show |
108 | 321 | 0.3365 | -10 | c.206 others(27): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 18/22 | chr11 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110679589 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0239 | 1 | 372 | 0.0027 | -10 | c.656 others(27): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110679593 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0340 | 1 | 372 | 0.0027 | -10 | c.656 others(27): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110679597 | AAGAGAGA others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0297 a0001c0003t0002g0298 |
2 | 372 | 0.0054 | -10 | c.656 others(27): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110692119 | CACATATA others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG01943.hp1 HG02055.hp1 others(10): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0002t0001g0264 a0001c0002t0001g0278 a0001c0002t0002g0270 others(10): Show |
13 | 372 | 0.0350 | -10 | c.394 others(27): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 3/14 | chr13 | TogoVar | |||||||
CARTPT_chr5_71714275_71726045 | 71715591 | TTTTTGTT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(6): Show |
60 | 474 | 0.1266 | -10 | c.-37 others(21): Show |
CARTPT | ENSG00000164326.5 | transcript | ENST00000296777.5 | protein_coding | 3683 | chr5 | TogoVar | |||||||
CARTPT_chr5_71714275_71726045 | 71721261 | GTGTGTGT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 474 | 0.0021 | -10 | c.*64 others(19): Show |
CARTPT | ENSG00000164326.5 | transcript | ENST00000296777.5 | protein_coding | 217 | chr5 | TogoVar | |||||||
CARTPT_chr5_71714275_71726045 | 71725261 | TTTTTTTT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 474 | 0.0021 | -10 | c.*46 others(21): Show |
CARTPT | ENSG00000164326.5 | transcript | ENST00000296777.5 | protein_coding | 4217 | chr5 | TogoVar | |||||||
CASC3_chr17_40135537_40177171 | 40140343 | CACACACC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02132.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 a0001c0001t0001g0224 |
2 | 266 | 0.0075 | -10 | c.-20 others(19): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 193 | chr17 | TogoVar | |||||||
CASC3_chr17_40135537_40177171 | 40140373 | AACACACA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01256.hp2 HG01981.hp1 others(7): Show |
a0001a0004a0006 | a0001c0001a0004c0002a0006c0007 | a0001c0001t0001a0004c0002t0001a0006c0007t0001 | a0001c0001t0001g0026 a0001c0001t0001g0075 a0001c0001t0001g0089 others(7): Show |
10 | 266 | 0.0376 | -10 | c.-17 others(19): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 163 | chr17 | TogoVar | |||||||
CASC3_chr17_40135537_40177171 | 40169742 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0249 | 1 | 266 | 0.0038 | -10 | c.*41 others(25): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CASKIN1_chr16_2172180_2201605 | 2183700 | GATCTTCT others(3): Show |
G | frameshift_variant | HIGH | NA18969.hp2 | a0036 | a0036c0051 | a0036c0051t0001 | a0036c0051t0001g0189 | 1 | 350 | 0.0029 | -10 | c.156 others(19): Show |
p.Arg others(5): Show |
CASKIN1 | ENSG00000167971.16 | transcript | ENST00000343516.8 | protein_coding | 16/20 | 1747/5839 | 1565/4296 | 522/1431 | chr16 | TogoVar | |||
CASKIN2_chr17_75495261_75520537 | 75496888 | GGCTGGGG others(3): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 414 | 0.0024 | -10 | c.*41 others(21): Show |
CASKIN2 | ENSG00000177303.10 | transcript | ENST00000321617.8 | protein_coding | 3372 | chr17 | TogoVar | |||||||
CASKIN2_chr17_75495261_75520537 | 75517111 | GCCCTCCC others(3): Show |
G | upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0093 | 1 | 414 | 0.0024 | -10 | c.-21 others(21): Show |
CASKIN2 | ENSG00000177303.10 | transcript | ENST00000321617.8 | protein_coding | 1575 | chr17 | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41510388 | CATATATA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0044 |
3 | 164 | 0.0183 | -10 | c.*10 others(23): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 4545 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41534392 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0007a0001c0001t0025a0001c0001t0026others(1): Show | a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0025g0019 others(2): Show |
5 | 164 | 0.0305 | -10 | c.231 others(27): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 24/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41829696 | GATATATA others(3): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG02129.hp1 HG02602.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0105 a0001c0001t0001g0128 a0001c0001t0001g0138 others(6): Show |
9 | 164 | 0.0549 | -10 | c.172 others(29): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41854222 | GCGCACAC others(3): Show |
G | intron_variant | MODIFIER | HG03471.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0025a0001c0006t0028 | a0001c0001t0025g0019 a0001c0006t0028g0018 |
2 | 164 | 0.0122 | -10 | c.60- others(24): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41921869 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0008 | 1 | 164 | 0.0061 | -10 | c.59+ others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | |||||||
CASP10_chr2_201178141_201226665 | 201194087 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 HG02895.hp1 |
a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0019 a0001c0005t0009g0045 |
3 | 322 | 0.0093 | -10 | c.577 others(26): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASP10_chr2_201178141_201226665 | 201199569 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0221 | 1 | 322 | 0.0031 | -10 | c.684 others(27): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASP14_chr19_15044480_15063293 | 15049691 | TCTCTCTC others(3): Show |
T | intron_variant | MODIFIER | HG02132.hp1 HG02486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0004 | a0001c0001t0007g0062 a0001c0002t0004g0063 |
2 | 428 | 0.0047 | -10 | c.-47 others(23): Show |
CASP14 | ENSG00000105141.6 | transcript | ENST00000427043.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CASP14_chr19_15044480_15063293 | 15049693 | TCTCTCAC others(3): Show |
T | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 428 | 0.0023 | -10 | c.-47 others(23): Show |
CASP14 | ENSG00000105141.6 | transcript | ENST00000427043.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CASP4_chr11_104937866_104973574 | 104958960 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03130.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0167 a0001c0001t0001g0168 |
4 | 358 | 0.0112 | -10 | c.8-3 others(23): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 1/8 | chr11 | TogoVar | |||||||
CASP5_chr11_104989243_105028168 | 105005352 | ATATATGT others(3): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01175.hp2 HG03453.hp2 |
a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0042 a0008c0008t0001g0228 |
3 | 396 | 0.0076 | -10 | c.433 others(27): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
CASP5_chr11_104989243_105028168 | 105009718 | CACATATA others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00673.hp2 others(76): Show |
a0001a0003a0004others(8): Show | a0001c0001a0003c0003a0004c0004others(8): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(8): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0003c0003t0001g0001 others(57): Show |
79 | 396 | 0.1995 | -10 | c.8-7 others(21): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
CASP5_chr11_104989243_105028168 | 105009720 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0028 | a0028c0025 | a0028c0025t0001 | a0028c0025t0001g0265 | 1 | 396 | 0.0025 | -10 | c.8-7 others(21): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
CASP5_chr11_104989243_105028168 | 105013819 | AAAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG02965.hp1 HG03041.hp2 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0043 a0006c0007t0001g0325 |
3 | 396 | 0.0076 | -10 | c.8-4 others(23): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109684109 | CTGGAGTG others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0060 |
7 | 416 | 0.0168 | -10 | c.*52 others(21): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 4518 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109705974 | TAAAAAAA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0193 | 1 | 416 | 0.0024 | -10 | c.-25 others(21): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2530 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109705993 | AAAAAAAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 NA18522.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0013a0002c0003t0003others(1): Show | a0001c0001t0004g0149 a0001c0001t0013g0150 a0002c0003t0003g0010 others(1): Show |
7 | 416 | 0.0168 | -10 | c.-26 others(21): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2549 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109705995 | AAAAAAAA others(3): Show |
A | upstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 416 | 0.0024 | -10 | c.-26 others(21): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2551 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109705997 | AAAAAATA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG02040.hp2 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0025 a0001c0001t0004g0146 a0001c0001t0004g0198 |
3 | 416 | 0.0072 | -10 | c.-26 others(21): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2553 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109706129 | TTTTATAT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp1 HG02622.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0101 a0001c0002t0001g0072 others(2): Show |
5 | 416 | 0.0120 | -10 | c.-27 others(21): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2685 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109706164 | TATATATA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 416 | 0.0024 | -10 | c.-27 others(21): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2720 | chr4 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113679022 | CGTGTGTG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(167): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0012 a0001c0001t0002g0103 a0001c0001t0002g0106 others(158): Show |
170 | 406 | 0.4187 | -10 | c.-95 others(19): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 889 | chr10 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113684239 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019 | 1 | 406 | 0.0025 | -10 | c.-1+ others(25): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201268909 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02451.hp2 others(2): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0009 | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(1): Show | a0001c0001t0001g0061 a0001c0001t0008g0031 a0001c0002t0002g0110 others(1): Show |
5 | 386 | 0.0130 | -10 | c.305 others(27): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASQ1_chr1_160185575_160206886 | 160203667 | ATGGATCA others(3): Show |
A | downstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 440 | 0.0023 | -10 | c.*22 others(21): Show |
CASQ1 | ENSG00000143318.13 | transcript | ENST00000368078.8 | protein_coding | 1782 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115773214 | CTGTGTGT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01952.hp1 HG02055.hp1 HG02155.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0005a0001c0001t0008a0001c0002t0001others(2): Show | a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0008g0021 others(4): Show |
7 | 364 | 0.0192 | -10 | c.-46 others(21): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 4501 | chr1 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122236409 | TATTTCCT others(3): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0176 | 1 | 314 | 0.0032 | -10 | c.-24 others(31): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122272091 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp2 others(66): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0002c0008others(5): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0012others(15): Show | a0001c0001t0002g0112 a0002c0002t0002g0001 a0002c0002t0002g0054 others(64): Show |
69 | 314 | 0.2198 | -10 | c.137 others(29): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |