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 | 7569235 | C | CCATCAT | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02647.hp1 others(1): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0012a0001c0002t0003a0001c0017t0026others(1): Show | a0001c0001t0012g0019a0001c0002t0003g0025a0001c0017t0026g0027others(1): Show | 4 | 58 | 0.0690 | 6 | c.511 others(25): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7602020 | G | GGAGGGA | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(3): Show | a0001c0001t0001g0007a0001c0001t0002g0002a0001c0001t0020g0049others(3): Show | 6 | 58 | 0.1035 | 6 | c.511 others(25): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7655106 | A | ACACACC | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00735.hp1 others(29): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0013others(29): Show | 32 | 58 | 0.5517 | 6 | c.665 others(23): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7655285 | C | CACACAA | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00735.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0013others(30): Show | 33 | 58 | 0.5690 | 6 | c.665 others(23): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7668388 | A | AACACAC | intron_variant | MODIFIER | HG01884.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0013a0001c0001t0013g0056 | 2 | 58 | 0.0345 | 6 | c.265 others(25): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7668392 | C | CACACAA | intron_variant | MODIFIER | HG02132.hp1 HG02451.hp2 HG02523.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0010a0001c0003t0001a0001c0006t0001others(2): Show | a0001c0002t0010g0010a0001c0003t0001g0004a0001c0003t0001g0012others(3): Show | 6 | 58 | 0.1035 | 6 | c.265 others(25): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7730908 | A | ATCTCTC | intron_variant | MODIFIER | HG00558.hp1 HG02132.hp2 HG02523.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0008 | a0001c0001t0001g0011a0001c0001t0001g0040a0001c0001t0003g0047others(1): Show | 4 | 58 | 0.0690 | 6 | c.291 others(25): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAND1_chr12_67264358_67324953 | 67267425 | T | TTGTGTG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0020a0001c0001t0021a0001c0001t0023others(7): Show | a0001c0001t0020g0022a0001c0001t0020g0088a0001c0001t0021g0021others(18): Show | 22 | 328 | 0.0671 | 6 | c.-22 others(17): Show |
CAND1 | ENSG00000111530.13 | transcript | ENST00000545606.6 | protein_coding | 1932 | chr12 | TogoVar | ||||||
CAND1_chr12_67264358_67324953 | 67275429 | A | AGGCAGC | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp1 HG01261.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012a0001c0001t0018others(9): Show | a0001c0001t0007g0061a0001c0001t0007g0062a0001c0001t0007g0064others(21): Show | 29 | 328 | 0.0884 | 6 | c.68+ others(21): Show |
CAND1 | ENSG00000111530.13 | transcript | ENST00000545606.6 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CAND2_chr3_12791680_12839803 | 12794680 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02572.hp1 others(3): Show |
a0001a0003a0004others(2): Show | a0001c0035a0003c0002a0004c0003others(2): Show | a0001c0035t0002a0003c0002t0002a0004c0003t0001others(2): Show | a0001c0035t0002g0136a0003c0002t0002g0052a0003c0002t0002g0138others(3): Show | 6 | 378 | 0.0159 | 6 | c.-20 others(17): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 1999 | chr3 | TogoVar | ||||||
CAND2_chr3_12791680_12839803 | 12823968 | T | TAATTTC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(220): Show |
a0001a0002a0003others(33): Show | a0001c0005a0001c0007a0001c0017others(46): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0003others(58): Show | a0001c0005t0001g0065a0001c0005t0001g0236a0001c0005t0001g0237others(218): Show | 223 | 378 | 0.5900 | 6 | c.304 others(25): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CANT1_chr17_78986716_79014764 | 78987377 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00673.hp2 HG02280.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008a0001c0002t0025 | a0001c0002t0002g0038a0001c0002t0002g0043a0001c0002t0008g0266others(3): Show | 6 | 394 | 0.0152 | 6 | c.*61 others(17): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 4338 | chr17 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 78988218 | T | TCAACAA | downstream_gene_variant | MODIFIER | HG02896.hp1 HG03486.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0002 | a0001c0002t0002g0029a0001c0005t0002g0115a0001c0005t0002g0116 | 4 | 394 | 0.0102 | 6 | c.*53 others(17): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 3497 | chr17 | TogoVar | ||||||
CANX_chr5_179693967_179736641 | 179701736 | C | CTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(42): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0034others(42): Show | 45 | 380 | 0.1184 | 6 | c.-4+ others(21): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAP1_chr1_40035729_40077648 | 40049178 | A | ATTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0005a0001c0002t0010a0001c0002t0013others(1): Show | a0001c0001t0005g0022a0001c0002t0010g0047a0001c0002t0013g0048others(1): Show | 6 | 378 | 0.0159 | 6 | c.-11 others(23): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAP1_chr1_40035729_40077648 | 40062773 | T | TTGTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(194): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0011others(110): Show | 197 | 378 | 0.5212 | 6 | c.294 others(21): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17405498 | G | GTCTCTC | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp1 HG02109.hp2 others(3): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0010 | a0001c0002t0001a0001c0003t0002a0004c0010t0001others(1): Show | a0001c0002t0001g0062a0001c0003t0002g0060a0001c0003t0002g0064others(3): Show | 6 | 206 | 0.0291 | 6 | c.-2+ others(23): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17438433 | G | GTTTTGT | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01109.hp2 others(16): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0034a0001c0001t0001g0054a0001c0001t0001g0103others(16): Show | 19 | 206 | 0.0922 | 6 | c.222 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17440614 | G | GGTGTGT | intron_variant | MODIFIER | HG02027.hp2 HG02083.hp1 HG02132.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0002g0021others(1): Show | 4 | 206 | 0.0194 | 6 | c.222 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17443574 | G | GACACAC | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(74): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0048a0001c0001t0001g0052a0001c0001t0001g0053others(74): Show | 77 | 206 | 0.3738 | 6 | c.222 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17444804 | C | CCACACA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0034a0001c0001t0001g0052a0001c0001t0001g0095others(38): Show | 41 | 206 | 0.1990 | 6 | c.222 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17496027 | T | TGGCGGG | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00735.hp1 others(36): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0041a0001c0001t0001g0140others(36): Show | 39 | 206 | 0.1893 | 6 | c.301 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17500340 | A | AATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01884.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0044a0001c0002t0001g0094a0001c0002t0001g0098others(7): Show | 10 | 206 | 0.0485 | 6 | c.301 others(23): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17529640 | C | CAAAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG02280.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0083a0001c0001t0001g0086a0003c0007t0001g0059others(3): Show | 6 | 206 | 0.0291 | 6 | c.637 others(23): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17533078 | C | CAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG01928.hp1 others(8): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0052a0001c0001t0001g0068a0001c0002t0001g0002others(8): Show | 11 | 206 | 0.0534 | 6 | c.637 others(23): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPG_chr2_85389753_85415366 | 85408338 | T | TCACACA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01070.hp1 others(38): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0005 | a0001c0002t0001a0001c0003t0001a0004c0005t0001 | a0001c0002t0001g0002a0001c0002t0001g0021a0001c0002t0001g0050others(19): Show | 41 | 410 | 0.1000 | 6 | c.-14 others(23): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44162368 | G | GACACAC | intron_variant | MODIFIER | HG01243.hp1 HG01346.hp2 HG01515.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0034a0001c0001t0001g0113a0001c0001t0001g0217others(3): Show | 6 | 460 | 0.0130 | 6 | c.16+ others(21): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44178749 | T | TAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01175.hp1 HG02015.hp1 others(2): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0007 | a0001c0001t0002a0003c0003t0002a0003c0003t0003others(1): Show | a0001c0001t0002g0277a0003c0003t0002g0138a0003c0003t0002g0423others(2): Show | 5 | 460 | 0.0109 | 6 | c.141 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 12/22 | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181574 | C | CCACACT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(125): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0020a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0022a0001c0001t0001g0023others(121): Show | 128 | 460 | 0.2783 | 6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181669 | C | CACACAT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(75): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(5): Show | a0001c0001t0001g0024a0001c0001t0001g0411a0002c0002t0001g0007others(71): Show | 78 | 460 | 0.1696 | 6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181712 | C | CACACAT | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02809.hp2 others(12): Show |
a0003a0004a0005others(1): Show | a0003c0003a0004c0004a0005c0006others(1): Show | a0003c0003t0002a0003c0003t0003a0004c0004t0001others(2): Show | a0003c0003t0002g0423a0003c0003t0003g0099a0003c0003t0003g0128others(12): Show | 15 | 460 | 0.0326 | 6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181783 | C | CCACACT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(154): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0020a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(12): Show | a0001c0001t0001g0004a0001c0001t0001g0022a0001c0001t0001g0023others(148): Show | 157 | 460 | 0.3413 | 6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181824 | C | CCACACT | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 NA19030.hp2 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0270a0003c0003t0002g0014 | 3 | 460 | 0.0065 | 6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181833 | C | CACACAT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(71): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0020a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0022a0001c0001t0001g0023others(70): Show | 74 | 460 | 0.1609 | 6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181861 | C | CCACACA | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0008 | a0001c0001t0001a0003c0003t0002a0008c0008t0002 | a0001c0001t0001g0034a0001c0001t0001g0280a0003c0003t0002g0377others(4): Show | 7 | 460 | 0.0152 | 6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181861 | C | CCACACT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(69): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0020a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0022a0001c0001t0001g0023others(68): Show | 72 | 460 | 0.1565 | 6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44182041 | C | CCACACA | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(49): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0005c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(5): Show | a0001c0001t0001g0390a0001c0001t0001g0403a0001c0001t0001g0408others(46): Show | 52 | 460 | 0.1130 | 6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44182252 | C | CCACACA | intron_variant | MODIFIER | HG01069.hp2 HG02257.hp2 HG02615.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0002 | a0001c0001t0001g0207a0003c0003t0001g0108a0003c0003t0001g0270others(3): Show | 7 | 460 | 0.0152 | 6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44182285 | C | CCACACA | intron_variant | MODIFIER | HG01243.hp1 HG01928.hp2 HG02055.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0029a0001c0001t0001g0034a0001c0001t0001g0243others(4): Show | 7 | 460 | 0.0152 | 6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44182306 | C | CACACAT | intron_variant | MODIFIER | HG01109.hp1 HG01515.hp1 HG01517.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0020a0003c0003t0002g0009a0003c0003t0002g0221 | 4 | 460 | 0.0087 | 6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44187536 | G | GGTGTGT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(159): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0011a0001c0015others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0011t0001others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0010others(154): Show | 162 | 460 | 0.3522 | 6 | c.*36 others(17): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 3136 | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38728410 | G | GCTCCTC | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00738.hp1 others(26): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0020others(3): Show | a0001c0001t0001a0001c0001t0014a0001c0003t0001others(4): Show | a0001c0001t0001g0047a0001c0001t0001g0049a0001c0001t0001g0050others(26): Show | 29 | 342 | 0.0848 | 6 | c.*24 others(17): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 1781 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38736034 | G | GCAGGTC | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02135.hp2 others(5): Show |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0019a0003c0005t0004g0020a0003c0005t0004g0021others(5): Show | 8 | 342 | 0.0234 | 6 | c.158 others(21): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38749045 | T | TAAAAAA | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01123.hp2 HG01975.hp2 others(12): Show |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0018a0003c0005t0004g0019a0003c0005t0004g0020others(12): Show | 15 | 342 | 0.0439 | 6 | c.-48 others(17): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 4572 | chr19 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30759120 | T | TCTCTTC | intron_variant | MODIFIER | HG02451.hp1 HG02976.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0129a0001c0001t0001g0136a0001c0001t0002g0068others(2): Show | 5 | 384 | 0.0130 | 6 | c.775 others(21): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30802463 | A | ATGTGTG | intron_variant | MODIFIER | HG00738.hp2 HG02280.hp1 HG02572.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0236a0001c0001t0001g0238a0001c0001t0002g0229others(13): Show | 16 | 384 | 0.0417 | 6 | c.-33 others(23): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31211671 | G | GCACACA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(91): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0031others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0025others(16): Show | a0001c0001t0002g0008a0001c0001t0002g0096a0001c0001t0002g0097others(80): Show | 94 | 326 | 0.2883 | 6 | c.-53 others(23): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 1/21 | chr2 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223714621 | T | TAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp1 HG02055.hp1 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0006 | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(2): Show | a0001c0002t0001g0006a0001c0002t0001g0007a0001c0002t0001g0009others(7): Show | 10 | 378 | 0.0265 | 6 | c.237 others(23): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223719805 | C | CGTGTGT | intron_variant | MODIFIER | HG00597.hp2 NA18974.hp1 NA19081.hp2 |
a0003a0004 | a0003c0023a0004c0008 | a0003c0023t0002a0004c0008t0004 | a0003c0023t0002g0118a0004c0008t0004g0116a0004c0008t0004g0117 | 3 | 378 | 0.0079 | 6 | c.307 others(23): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223741440 | G | GTGTATA | intron_variant | MODIFIER | HG01358.hp2 HG02132.hp1 HG03490.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0186a0001c0001t0002g0179a0001c0001t0002g0221others(6): Show | 9 | 378 | 0.0238 | 6 | c.308 others(23): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |