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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CANX_chr5_179693967_179736641 | 179701736 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(77): Show |
a0001a0006 | a0001c0001a0001c0009a0006c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(61): Show |
80 | 115 | 0.6957 | 5 | c.-4+ others(20): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40049178 | A | ATTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0005a0001c0002t0010a0001c0002t0015others(1): Show | a0001c0001t0005g0062 a0001c0002t0010g0045 a0001c0002t0015g0044 others(1): Show |
6 | 64 | 0.0938 | 5 | c.-11 others(22): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40054061 | T | TAAAAC | intron_variant | MODIFIER | HG00423.hp2 HG01496.hp1 HG02027.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0016 | a0001c0001t0006g0007 a0001c0001t0006g0023 a0001c0001t0006g0024 others(3): Show |
12 | 375 | 0.0320 | 5 | c.-10 others(22): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17438431 | G | GTGTTT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(71): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 others(71): Show |
74 | 201 | 0.3682 | 5 | c.222 others(24): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17440607 | T | TGTGTG | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(56): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0052 others(56): Show |
59 | 204 | 0.2892 | 5 | c.222 others(24): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17496027 | T | TGGCGG | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0019 others(37): Show |
40 | 99 | 0.4040 | 5 | c.301 others(24): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17527597 | C | CTTTTT | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG01884.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0041 others(16): Show |
19 | 67 | 0.2836 | 5 | c.637 others(24): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17533078 | C | CAAAAA | intron_variant | MODIFIER | HG01517.hp1 HG01952.hp1 HG01975.hp2 others(21): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0041 others(21): Show |
24 | 37 | 0.6486 | 5 | c.637 others(22): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17537500 | A | ATGTTT | intron_variant | MODIFIER | HG01517.hp1 HG01928.hp1 HG01952.hp1 others(16): Show |
a0001a0006 | a0001c0002a0001c0008a0006c0016 | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(2): Show | a0001c0002t0001g0020 a0001c0002t0001g0077 a0001c0002t0001g0078 others(16): Show |
19 | 204 | 0.0931 | 5 | c.637 others(22): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44178749 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00738.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0041 others(15): Show |
28 | 326 | 0.0859 | 5 | c.141 others(22): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 12/22 | chr6 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181574 | C | CTCACA | intron_variant | MODIFIER | HG00544.hp1 HG03704.hp1 NA18941.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(2): Show |
6 | 27 | 0.2222 | 5 | c.193 others(22): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | chr6 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735687 | G | GGGGGC | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01261.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0048 a0001c0001t0001g0053 others(14): Show |
17 | 310 | 0.0548 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735707 | G | GGGGGC | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG01074.hp2 others(15): Show |
a0001a0002a0005 | a0001c0001a0002c0004a0005c0007 | a0001c0001t0001a0001c0001t0014a0002c0004t0001others(1): Show | a0001c0001t0001g0080 a0001c0001t0001g0115 a0001c0001t0014g0046 others(15): Show |
18 | 314 | 0.0573 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735727 | G | GCGGGC | intron_variant | MODIFIER | HG02055.hp2 HG03516.hp2 NA18993.hp1 others(1): Show |
a0001a0020 | a0001c0001a0020c0031 | a0001c0001t0005a0001c0001t0007a0020c0031t0005 | a0001c0001t0005g0279 a0001c0001t0005g0287 a0001c0001t0007g0285 others(1): Show |
4 | 270 | 0.0148 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735727 | G | GGGGGC | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01071.hp1 others(47): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(8): Show | a0001c0001t0001g0084 a0001c0001t0001g0148 a0001c0001t0001g0157 others(37): Show |
50 | 316 | 0.1582 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735747 | G | GCGGGC | intron_variant | MODIFIER | HG00642.hp2 HG02015.hp1 HG02040.hp1 others(21): Show |
a0001a0004a0008others(2): Show | a0001c0001a0001c0025a0004c0008others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0003g0295 a0001c0001t0005g0271 a0001c0001t0005g0272 others(21): Show |
24 | 306 | 0.0784 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735747 | G | GGGGGC | intron_variant | MODIFIER | HG00438.hp1 HG01071.hp1 HG01071.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(5): Show | a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0148 others(20): Show |
26 | 308 | 0.0844 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735767 | G | GCGGGC | intron_variant | MODIFIER | HG00642.hp2 HG02630.hp2 NA20129.hp2 |
a0008a0015a0025 | a0008c0030a0015c0014a0025c0029 | a0008c0030t0007a0015c0014t0022a0025c0029t0007 | a0008c0030t0007g0289 a0015c0014t0022g0237 a0025c0029t0007g0288 |
3 | 271 | 0.0111 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735767 | G | GGGGGC | intron_variant | MODIFIER | HG00738.hp2 HG01516.hp2 HG01517.hp1 others(5): Show |
a0001a0019 | a0001c0001a0019c0038 | a0001c0001t0001a0001c0001t0016a0019c0038t0001 | a0001c0001t0001g0001 a0001c0001t0001g0085 a0001c0001t0001g0101 others(5): Show |
8 | 276 | 0.0290 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735817 | G | GCGGGC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(80): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0003a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(63): Show |
83 | 289 | 0.2872 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735817 | G | GGGGGC | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01071.hp2 others(13): Show |
a0001a0002a0019 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0016a0001c0002t0002others(3): Show | a0001c0001t0001g0080 a0001c0001t0001g0101 a0001c0001t0001g0132 others(13): Show |
16 | 222 | 0.0721 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735837 | G | GCGGGC | intron_variant | MODIFIER | HG01884.hp2 HG02080.hp1 HG02280.hp2 others(1): Show |
a0001a0015 | a0001c0002a0001c0011a0015c0014 | a0001c0002t0002a0001c0011t0003a0015c0014t0022 | a0001c0002t0002g0177 a0001c0011t0003g0248 a0001c0011t0003g0250 others(1): Show |
4 | 246 | 0.0163 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735837 | G | GGGGGC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00597.hp1 others(72): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(53): Show |
75 | 317 | 0.2366 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735868 | C | CGGGCG | intron_variant | MODIFIER | HG01169.hp1 HG01884.hp2 HG01952.hp2 others(3): Show |
a0001a0004a0012 | a0001c0002a0001c0011a0004c0010others(1): Show | a0001c0002t0002a0001c0011t0003a0004c0010t0002others(1): Show | a0001c0002t0002g0005 a0001c0002t0002g0163 a0001c0011t0003g0248 others(3): Show |
6 | 167 | 0.0359 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735881 | G | GGTTCT | intron_variant | MODIFIER | HG00544.hp2 HG01106.hp2 HG02257.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0011a0002c0004t0001others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0106 others(6): Show |
9 | 340 | 0.0265 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735886 | G | GGTTCT | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01081.hp1 others(18): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0002others(5): Show | a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 others(16): Show |
21 | 325 | 0.0646 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735907 | G | GGGGGC | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp2 HG03041.hp1 others(2): Show |
a0002a0023 | a0002c0004a0023c0035 | a0002c0004t0001a0002c0004t0018a0023c0035t0002 | a0002c0004t0001g0072 a0002c0004t0001g0073 a0002c0004t0001g0075 others(2): Show |
5 | 300 | 0.0167 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735930 | G | GGCGGT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(94): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0006a0001c0013others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(72): Show |
97 | 276 | 0.3514 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735937 | G | GGGGGC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(10): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(4): Show | a0001c0001t0003g0295 a0001c0001t0005g0281 a0001c0001t0005g0284 others(10): Show |
13 | 318 | 0.0409 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735938 | G | GGGGCA | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01123.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0006a0003c0005t0004 | a0001c0001t0006g0241 a0003c0005t0004g0020 a0003c0005t0004g0024 others(9): Show |
12 | 181 | 0.0663 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735962 | G | GCGGGC | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG02602.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0018 | a0002c0004t0001g0060 a0002c0004t0001g0063 a0002c0004t0001g0070 others(3): Show |
6 | 201 | 0.0299 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735962 | G | GGGGGC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(86): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(66): Show |
89 | 284 | 0.3134 | 5 | c.158 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38747105 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01358.hp1 HG02523.hp2 HG02572.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0001g0119 others(4): Show |
7 | 103 | 0.0680 | 5 | c.-29 others(16): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 2632 | chr19 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30724852 | A | AATGAG | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01106.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0183 a0001c0001t0002g0001 a0001c0001t0002g0005 others(34): Show |
40 | 382 | 0.1047 | 5 | c.*31 others(22): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 22/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30759150 | C | CCTTAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(233): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0013others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0015 others(228): Show |
236 | 382 | 0.6178 | 5 | c.775 others(22): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31190121 | C | CTTTGT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(166): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0003a0002c0002others(30): Show | a0001c0001t0014a0001c0001t0019a0001c0003t0013others(53): Show | a0001c0001t0014g0098 a0001c0001t0019g0256 a0001c0001t0019g0257 others(134): Show |
169 | 324 | 0.5216 | 5 | c.128 others(22): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
CAPN2_chr1_223707539_223781018 | 223714621 | T | TAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(86): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0037others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(13): Show | a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0007 others(78): Show |
89 | 155 | 0.5742 | 5 | c.237 others(22): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223737721 | G | GTGGTA | intron_variant | MODIFIER | HG00621.hp2 HG01168.hp1 HG01169.hp1 others(9): Show |
a0001a0004a0007 | a0001c0003a0004c0009a0007c0017 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(2): Show | a0001c0003t0001g0018 a0001c0003t0001g0331 a0001c0003t0001g0341 others(8): Show |
12 | 20 | 0.6000 | 5 | c.308 others(22): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CAPN2_chr1_223707539_223781018 | 223741765 | T | TTTTTC | intron_variant | MODIFIER | HG01891.hp1 HG02723.hp1 HG02886.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0001a0001c0003t0001a0004c0009t0001 | a0001c0001t0001g0133 a0001c0001t0001g0189 a0001c0001t0001g0212 others(6): Show |
9 | 376 | 0.0239 | 5 | c.308 others(22): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223776041 | C | CCATAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(42): Show |
a0001a0003a0011others(3): Show | a0001c0001a0001c0003a0003c0023others(4): Show | a0001c0001t0002a0001c0003t0002a0003c0023t0002others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0014 others(39): Show |
45 | 376 | 0.1197 | 5 | c.*11 others(16): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 24 | chr1 | TogoVar | |||||||
CAPN5_chr11_77061971_77131155 | 77097464 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(22): Show |
a0001a0004a0012 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(9): Show | a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0004g0002 others(18): Show |
25 | 142 | 0.1761 | 5 | c.297 others(22): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN7_chr3_15201246_15257916 | 15210490 | T | TATCTG | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG01891.hp2 others(46): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0003g0256 a0001c0001t0003g0261 a0001c0001t0003g0262 others(41): Show |
49 | 374 | 0.1310 | 5 | c.103 others(22): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAPN7_chr3_15201246_15257916 | 15238849 | A | ATTTTT | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp2 HG02109.hp2 others(18): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0256 a0001c0001t0003g0264 a0001c0001t0003g0265 others(18): Show |
21 | 253 | 0.0830 | 5 | c.140 others(24): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAPN7_chr3_15201246_15257916 | 15245197 | C | CAAAAG | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG01891.hp2 others(46): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0003g0256 a0001c0001t0003g0261 a0001c0001t0003g0262 others(41): Show |
49 | 374 | 0.1310 | 5 | c.186 others(22): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAPNS1_chr19_36135066_36155353 | 36145203 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG01109.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0015 others(19): Show |
50 | 100 | 0.5000 | 5 | c.457 others(20): Show |
CAPNS1 | ENSG00000126247.11 | transcript | ENST00000246533.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAPRIN2_chr12_30704553_30759951 | 30758010 | A | ATATAT | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01358.hp2 HG01934.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 a0003c0003t0001g0139 a0003c0003t0001g0150 |
4 | 192 | 0.0208 | 5 | c.-33 others(16): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3060 | chr12 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112644184 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(80): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(73): Show |
83 | 91 | 0.9121 | 5 | c.40- others(20): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112656440 | A | ATTTTT | intron_variant | MODIFIER | HG01243.hp1 HG01256.hp1 HG01258.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0019 others(23): Show |
28 | 151 | 0.1854 | 5 | c.426 others(22): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112656466 | T | TTTTTC | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01515.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0054 others(8): Show |
12 | 260 | 0.0462 | 5 | c.426 others(22): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTT | intron_variant | MODIFIER | HG01258.hp2 HG01433.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0255 others(3): Show |
6 | 9 | 0.6667 | 5 | c.40- others(20): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |