regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMTA1_chr1_6780454_7774706 | 7322943 | T | TCCCTC | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00735.hp1 others(46): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0013others(46): Show | 49 | 58 | 0.8448 | 5 | c.438 others(24): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7358539 | T | TGCCCC | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01243.hp1 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0002g0002a0001c0001t0002g0036a0001c0001t0003g0022others(14): Show | 17 | 58 | 0.2931 | 5 | c.438 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7370914 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02055.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0007a0001c0001t0002g0002a0001c0001t0004g0026others(7): Show | 10 | 58 | 0.1724 | 5 | c.439 others(24): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7568276 | T | TCACCA | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0002g0002a0001c0001t0004g0026a0001c0001t0004g0034others(4): Show | 7 | 58 | 0.1207 | 5 | c.511 others(24): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7659302 | A | AGGGGG | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp2 HG03688.hp1 |
a0001 | a0001c0006a0001c0009 | a0001c0006t0001a0001c0006t0005a0001c0009t0019 | a0001c0006t0001g0055a0001c0006t0005g0057a0001c0009t0019g0039 | 3 | 58 | 0.0517 | 5 | c.665 others(22): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 7/22 | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7666872 | G | GTTGTT | intron_variant | MODIFIER | HG01884.hp2 HG02004.hp1 HG03579.hp2 |
a0001a0007 | a0001c0002a0001c0003a0007c0008 | a0001c0002t0003a0001c0003t0010a0007c0008t0007 | a0001c0002t0003g0006a0001c0003t0010g0035a0007c0008t0007g0023 | 3 | 58 | 0.0517 | 5 | c.265 others(24): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7704794 | C | CGGGCT | intron_variant | MODIFIER | HG02280.hp2 HG03041.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0002t0006a0001c0003t0008 | a0001c0001t0008g0003a0001c0002t0006g0008a0001c0003t0008g0032 | 3 | 58 | 0.0517 | 5 | c.291 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7718853 | C | CTTTTT | intron_variant | MODIFIER | HG02132.hp1 HG02523.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013a0001c0001t0002g0046a0001c0001t0003g0048others(4): Show | 7 | 58 | 0.1207 | 5 | c.291 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7756847 | C | CAAACA | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0001t0012a0001c0002t0003others(1): Show | a0001c0001t0008g0003a0001c0001t0012g0019a0001c0002t0003g0006others(1): Show | 4 | 58 | 0.0690 | 5 | c.498 others(24): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7759148 | C | CAGAAA | intron_variant | MODIFIER | HG02922.hp1 HG03579.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0010a0001c0003t0010 | a0001c0002t0010g0010a0001c0003t0010g0035 | 2 | 58 | 0.0345 | 5 | c.498 others(24): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CANT1_chr17_78986716_79014764 | 78989931 | T | TAAATA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp2 others(44): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0003a0001c0003t0002a0001c0003t0006others(2): Show | a0001c0002t0003g0045a0001c0002t0003g0225a0001c0003t0002g0005others(30): Show | 47 | 394 | 0.1193 | 5 | c.*36 others(16): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1784 | chr17 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 78999642 | A | ATTTTT | intron_variant | MODIFIER | HG02738.hp1 HG04115.hp2 HG04184.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005a0001c0002t0024others(1): Show | a0001c0002t0003g0046a0001c0002t0005g0088a0001c0002t0005g0091others(2): Show | 6 | 394 | 0.0152 | 5 | c.-14 others(24): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CANX_chr5_179693967_179736641 | 179701736 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(77): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(61): Show | 80 | 380 | 0.2105 | 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 | a0001c0001t0005g0063a0001c0002t0010g0046a0001c0002t0015g0045others(1): Show | 6 | 378 | 0.0159 | 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 | a0001c0001t0006g0007a0001c0001t0006g0023a0001c0001t0006g0024others(3): Show | 12 | 378 | 0.0318 | 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 | a0001c0001t0001g0048a0001c0001t0001g0052a0001c0001t0001g0053others(71): Show | 74 | 206 | 0.3592 | 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 | a0001c0001t0001g0034a0001c0001t0001g0048a0001c0001t0001g0052others(56): Show | 59 | 206 | 0.2864 | 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 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0018others(37): Show | 40 | 206 | 0.1942 | 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 | a0001c0001t0001g0001a0001c0001t0001g0036a0001c0001t0001g0040others(16): Show | 19 | 206 | 0.0922 | 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 | a0001c0001t0001g0001a0001c0001t0001g0036a0001c0001t0001g0040others(21): Show | 24 | 206 | 0.1165 | 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 | a0001c0002t0001g0019a0001c0002t0001g0071a0001c0002t0001g0072others(16): Show | 19 | 206 | 0.0922 | 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 |
a0001a0003a0005others(2): Show | a0001c0001a0003c0003a0005c0006others(2): Show | a0001c0001t0001a0003c0003t0002a0003c0003t0003others(4): Show | a0001c0001t0001g0034a0001c0001t0001g0195a0001c0001t0001g0280others(25): Show | 28 | 460 | 0.0609 | 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 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060a0002c0002t0001g0079a0002c0002t0001g0231others(3): Show | 6 | 460 | 0.0130 | 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 | a0001c0001t0001g0047a0001c0001t0001g0051a0001c0001t0001g0052others(14): Show | 17 | 342 | 0.0497 | 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 | a0001c0001t0001g0079a0001c0001t0001g0117a0001c0001t0014g0045others(15): Show | 18 | 342 | 0.0526 | 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 |
a0001a0012 | a0001c0001a0012c0032 | a0001c0001t0005a0001c0001t0007a0012c0032t0005 | a0001c0001t0005g0291a0001c0001t0005g0299a0001c0001t0007g0297others(1): Show | 4 | 342 | 0.0117 | 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 | a0001c0001t0001g0080a0001c0001t0001g0089a0001c0001t0001g0153others(40): Show | 50 | 342 | 0.1462 | 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 |
a0001a0004a0012others(2): Show | a0001c0001a0001c0026a0004c0008others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0003g0307a0001c0001t0005g0283a0001c0001t0005g0284others(21): Show | 24 | 342 | 0.0702 | 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 | a0001c0001t0001g0079a0001c0001t0001g0089a0001c0001t0001g0153others(20): Show | 26 | 342 | 0.0760 | 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 |
a0008a0013a0014 | a0008c0014a0013c0030a0014c0031 | a0008c0014t0022a0013c0030t0007a0014c0031t0007 | a0008c0014t0022g0249a0013c0030t0007g0300a0014c0031t0007g0301 | 3 | 342 | 0.0088 | 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 |
a0001a0009 | a0001c0001a0009c0039 | a0001c0001t0001a0001c0001t0016a0009c0039t0001 | a0001c0001t0001g0087a0001c0001t0001g0104a0001c0001t0001g0116others(5): Show | 8 | 342 | 0.0234 | 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(81): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(65): Show | 84 | 342 | 0.2456 | 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 |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0016a0001c0002t0002others(3): Show | a0001c0001t0001g0079a0001c0001t0001g0104a0001c0001t0001g0136others(13): Show | 16 | 342 | 0.0468 | 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 |
a0001a0008 | a0001c0002a0001c0011a0008c0014 | a0001c0002t0002a0001c0011t0003a0008c0014t0022 | a0001c0002t0002g0186a0001c0011t0003g0260a0001c0011t0003g0262others(1): Show | 4 | 342 | 0.0117 | 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(73): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(56): Show | 76 | 342 | 0.2222 | 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 |
a0001a0004a0019 | a0001c0002a0001c0011a0004c0010others(1): Show | a0001c0002t0002a0001c0011t0003a0004c0010t0002others(1): Show | a0001c0002t0002g0167a0001c0002t0002g0188a0001c0011t0003g0260others(3): Show | 6 | 342 | 0.0175 | 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 | a0001c0001t0001g0051a0001c0001t0001g0064a0001c0001t0001g0080others(6): Show | 9 | 342 | 0.0263 | 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 | a0001c0001t0001g0047a0001c0001t0001g0050a0001c0001t0001g0052others(16): Show | 21 | 342 | 0.0614 | 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 |
a0002a0017 | a0002c0004a0017c0036 | a0002c0004t0001a0002c0004t0018a0017c0036t0002 | a0002c0004t0001g0068a0002c0004t0001g0069a0002c0004t0001g0075others(2): Show | 5 | 342 | 0.0146 | 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(5): Show | a0001c0001a0001c0006a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(75): Show | 97 | 342 | 0.2836 | 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 | a0001c0001t0003g0307a0001c0001t0005g0293a0001c0001t0005g0296others(10): Show | 13 | 342 | 0.0380 | 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 | a0001c0001t0006g0253a0003c0005t0004g0019a0003c0005t0004g0023others(9): Show | 12 | 342 | 0.0351 | 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 | a0002c0004t0001g0058a0002c0004t0001g0061a0002c0004t0001g0067others(3): Show | 6 | 342 | 0.0175 | 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(6): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(69): Show | 89 | 342 | 0.2602 | 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 | a0001c0001t0001g0002a0001c0001t0001g0114a0001c0001t0001g0125others(4): Show | 7 | 342 | 0.0205 | 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(38): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0191a0001c0001t0002g0023a0001c0001t0002g0053others(38): Show | 41 | 384 | 0.1068 | 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(234): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0013others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0010others(232): Show | 237 | 384 | 0.6172 | 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 | a0001c0001t0014g0090a0001c0001t0019g0279a0001c0001t0019g0280others(151): Show | 169 | 326 | 0.5184 | 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 |
a0001a0002a0005others(1): Show | a0001c0002a0001c0003a0001c0037others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(13): Show | a0001c0002t0001g0019a0001c0002t0001g0024a0001c0002t0001g0030others(84): Show | 89 | 378 | 0.2355 | 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 |
a0001a0005a0007 | a0001c0003a0005c0009a0007c0017 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(2): Show | a0001c0003t0001g0346a0001c0003t0001g0356a0001c0003t0001g0359others(9): Show | 12 | 378 | 0.0318 | 5 | c.308 others(22): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | chr1 | TogoVar |