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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN12_chr19_38725192_38749474 | 38735927 | CGGGGGTT others(3): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 342 | 0.0029 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735952 | CGGGGGTT others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp1 HG02723.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0004a0005c0007others(1): Show | a0001c0001t0001a0002c0004t0001a0005c0007t0003others(1): Show | a0001c0001t0001g0049 a0002c0004t0001g0048 a0002c0004t0001g0057 others(2): Show |
5 | 342 | 0.0146 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735973 | GGGGCGGG others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0254 a0001c0001t0009g0255 |
2 | 342 | 0.0059 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735982 | CAGGGGTT others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0006 | a0006c0038 | a0006c0038t0003 | a0006c0038t0003g0308 | 1 | 342 | 0.0029 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38739710 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 others(4): Show |
7 | 342 | 0.0205 | -10 | c.729 others(25): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 5/20 | chr19 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30725250 | AAACATAT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(30): Show |
a0001a0016 | a0001c0001a0001c0002a0016c0017 | a0001c0001t0003a0001c0001t0006a0001c0002t0003others(3): Show | a0001c0001t0003g0009 a0001c0001t0003g0036 a0001c0001t0003g0043 others(30): Show |
33 | 384 | 0.0859 | -10 | c.*31 others(27): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 22/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30737966 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG02523.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0244 a0001c0001t0003g0298 a0001c0001t0003g0321 |
3 | 384 | 0.0078 | -10 | c.165 others(27): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31179060 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01361.hp2 HG02622.hp2 others(4): Show |
a0002a0013a0018others(1): Show | a0002c0002a0002c0004a0013c0026others(2): Show | a0002c0002t0020a0002c0004t0009a0013c0026t0020others(3): Show | a0002c0002t0020g0296 a0002c0004t0009g0147 a0013c0026t0020g0298 others(4): Show |
7 | 326 | 0.0215 | -10 | c.171 others(27): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31181384 | TTTTTTCT others(3): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0094 | 1 | 326 | 0.0031 | -10 | c.164 others(27): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31203829 | GCACAGGC others(3): Show |
G | intron_variant | MODIFIER | HG02738.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0279 a0001c0001t0019g0280 |
2 | 326 | 0.0061 | -10 | c.226 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31210460 | CATAAAAT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(209): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0003a0001c0011others(29): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(45): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 others(192): Show |
212 | 326 | 0.6503 | -10 | c.-52 others(27): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 1/21 | chr2 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 527438 | GCCCCGCC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG03579.hp1 |
a0004 | a0004c0016a0004c0017 | a0004c0016t0014a0004c0017t0003 | a0004c0016t0014g0007 a0004c0017t0003g0275 |
3 | 410 | 0.0073 | -10 | c.-78 others(19): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 273 | chr16 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 535811 | AGGCCCGG others(3): Show |
A | intron_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0041 | a0003c0041t0001 | a0003c0041t0001g0360 | 1 | 410 | 0.0024 | -10 | c.-13 others(27): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 540260 | ACCCGGGT others(3): Show |
A | intron_variant | MODIFIER | HG01978.hp1 | a0017 | a0017c0047 | a0017c0047t0005 | a0017c0047t0005g0263 | 1 | 410 | 0.0024 | -10 | c.-23 others(27): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 558060 | CCCAAAGT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03669.hp1 | a0025 | a0025c0063 | a0025c0063t0018 | a0025c0063t0018g0225 | 1 | 410 | 0.0024 | -10 | c.*45 others(21): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3425 | chr16 | TogoVar | |||||||
CAPN2_chr1_223707539_223781018 | 223742496 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0321 | 1 | 378 | 0.0027 | -10 | c.308 others(27): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223742514 | ATATATTT others(3): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03139.hp2 HG03225.hp1 others(2): Show |
a0001a0004 | a0001c0010a0001c0022a0004c0009 | a0001c0010t0003a0001c0022t0003a0004c0009t0001 | a0001c0010t0003g0325 a0001c0010t0003g0327 a0001c0022t0003g0264 others(2): Show |
5 | 378 | 0.0132 | -10 | c.308 others(27): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223742516 | ATATTTTT others(3): Show |
A | intron_variant | MODIFIER | NA18999.hp2 NA20300.hp1 NA20805.hp1 |
a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0326 a0001c0010t0003g0328 a0001c0010t0003g0329 |
3 | 378 | 0.0079 | -10 | c.308 others(27): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42380368 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03486.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0002c0006t0001g0002 others(1): Show |
5 | 306 | 0.0163 | -10 | c.310 others(27): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42398590 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG02055.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0013a0001c0020others(7): Show | a0001c0001t0001a0001c0013t0001a0001c0020t0001others(7): Show | a0001c0001t0001g0007 a0001c0013t0001g0280 a0001c0013t0001g0281 others(12): Show |
16 | 306 | 0.0523 | -10 | c.119 others(27): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42416896 | AAAGCCTG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02723.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 others(4): Show |
7 | 306 | 0.0229 | -10 | c.*51 others(21): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 4580 | chr15 | TogoVar | |||||||
CAPN5_chr11_77061971_77131155 | 77062019 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(115): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0100 others(112): Show |
118 | 382 | 0.3089 | -10 | c.-51 others(21): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 4951 | chr11 | TogoVar | |||||||
CAPN5_chr11_77061971_77131155 | 77067632 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG02809.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0011 | a0001c0001t0029a0001c0001t0051a0001c0001t0052others(2): Show | a0001c0001t0029g0362 a0001c0001t0051g0364 a0001c0001t0052g0363 others(2): Show |
5 | 382 | 0.0131 | -10 | c.-36 others(25): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77076136 | CAGATCAC others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02145.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0222 a0001c0002t0002g0210 a0001c0002t0003g0213 others(8): Show |
11 | 382 | 0.0288 | -10 | c.-35 others(27): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77085100 | CCACAAGG others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0081 | 1 | 382 | 0.0026 | -10 | c.165 others(23): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 2/12 | chr11 | TogoVar | |||||||
CAPN5_chr11_77061971_77131155 | 77093598 | CGTCTGTG others(3): Show |
C | intron_variant | MODIFIER | NA18997.hp1 NA19081.hp1 |
a0001a0012 | a0001c0001a0012c0010 | a0001c0001t0001a0012c0010t0001 | a0001c0001t0001g0301 a0012c0010t0001g0332 |
2 | 382 | 0.0052 | -10 | c.166 others(23): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN7_chr3_15201246_15257916 | 15229553 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0006 a0001c0001t0004g0016 a0001c0001t0004g0043 others(5): Show |
12 | 376 | 0.0319 | -10 | c.938 others(25): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230751585 | CAAAGAAA others(3): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0028 | 1 | 394 | 0.0025 | -10 | c.214 others(27): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230751599 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02895.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0006a0003c0004others(1): Show | a0001c0001t0001a0002c0006t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0250 a0002c0006t0001g0251 a0002c0006t0001g0329 others(3): Show |
6 | 394 | 0.0152 | -10 | c.214 others(27): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230759690 | GCATTTCC others(3): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02486.hp2 others(10): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0013a0006c0010others(1): Show | a0001c0001t0001a0002c0013t0001a0002c0013t0002others(2): Show | a0001c0001t0001g0098 a0002c0013t0001g0028 a0002c0013t0001g0081 others(10): Show |
13 | 394 | 0.0330 | -10 | c.402 others(23): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230765212 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02129.hp1 HG02300.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0007 | a0001c0001t0001a0001c0005t0001a0004c0007t0001 | a0001c0001t0001g0219 a0001c0005t0001g0032 a0001c0005t0001g0033 others(4): Show |
7 | 394 | 0.0178 | -10 | c.537 others(27): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230780081 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG01169.hp1 others(36): Show |
a0002a0010a0019others(2): Show | a0002c0006a0002c0009a0002c0033others(5): Show | a0002c0006t0001a0002c0009t0001a0002c0033t0001others(5): Show | a0002c0006t0001g0006 a0002c0006t0001g0007 a0002c0006t0001g0011 others(36): Show |
39 | 394 | 0.0990 | -10 | c.111 others(25): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34087329 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 246 | 0.0041 | -10 | c.123 others(27): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34103735 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0053 a0001c0001t0005g0054 |
2 | 246 | 0.0081 | -10 | c.*43 others(21): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 1126 | chr11 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30712733 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp1 HG01169.hp2 others(7): Show |
a0002a0003 | a0002c0002a0002c0005a0003c0003 | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(1): Show | a0002c0002t0001g0033 a0002c0002t0001g0238 a0002c0002t0001g0239 others(6): Show |
10 | 378 | 0.0265 | -10 | c.250 others(29): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 17/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30734849 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG03453.hp2 NA18999.hp2 others(1): Show |
a0001 | a0001c0004a0001c0009 | a0001c0004t0001a0001c0009t0001 | a0001c0004t0001g0253 a0001c0004t0001g0255 a0001c0004t0001g0256 others(1): Show |
4 | 378 | 0.0106 | -10 | c.566 others(25): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 5/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30734878 | ACACACAC others(3): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02818.hp1 HG02886.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 a0002c0002t0001g0041 a0002c0002t0001g0051 others(4): Show |
9 | 378 | 0.0238 | -10 | c.566 others(23): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 5/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30751907 | GTATTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0181 | 1 | 378 | 0.0027 | -10 | c.178 others(25): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 2/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30751909 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02809.hp2 NA19043.hp1 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0219 a0002c0006t0001g0220 |
2 | 378 | 0.0053 | -10 | c.178 others(25): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 2/18 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75291480 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp2 others(30): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0002g0217 others(28): Show |
33 | 370 | 0.0892 | -10 | c.112 others(27): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75291567 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02647.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0002c0002t0008others(1): Show | a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 others(4): Show |
7 | 370 | 0.0189 | -10 | c.112 others(27): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75300555 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02129.hp1 NA18941.hp1 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0246 a0001c0001t0002g0301 a0001c0001t0005g0257 |
3 | 370 | 0.0081 | -10 | c.666 others(25): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 8/16 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75311699 | GGAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG02040.hp1 NA18942.hp2 NA18991.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(1): Show |
4 | 370 | 0.0108 | -10 | c.545 others(27): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 7/16 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75311702 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007 | a0001c0001t0003g0275 a0001c0001t0004g0136 a0001c0001t0004g0151 others(2): Show |
5 | 370 | 0.0135 | -10 | c.545 others(27): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 7/16 | chr12 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35939393 | TCTGACAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0009 |
2 | 402 | 0.0050 | -10 | c.-86 others(19): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 772 | chr5 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35939396 | GACACACA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp2 others(54): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 others(45): Show |
57 | 402 | 0.1418 | -10 | c.-86 others(19): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 775 | chr5 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112617713 | TCTCTCAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02965.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0009 | a0001c0001t0003g0014 a0001c0003t0009g0255 a0001c0003t0009g0256 others(2): Show |
5 | 368 | 0.0136 | -10 | c.-21 others(21): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 2118 | chr1 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112617715 | TCTCACAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01891.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 others(2): Show |
5 | 368 | 0.0136 | -10 | c.-21 others(21): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 2116 | chr1 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112668706 | GAACTCCT others(3): Show |
G | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 368 | 0.0027 | -10 | c.658 others(25): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116859912 | TTCTTTCT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01934.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0004 | a0001c0001t0001g0187 a0001c0001t0002g0132 a0001c0002t0004g0306 others(1): Show |
4 | 354 | 0.0113 | -10 | c.-26 others(21): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2674 | chr7 | TogoVar |