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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CASK_chrX_41509934_41928554 | 41783139 | TAAAAAC | T | intron_variant | MODIFIER | HG02145.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039 |
3 | 164 | 0.0183 | -6 | c.278 others(23): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 3/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41818145 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp1 HG02683.hp1 HG03130.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0109 a0001c0001t0002g0009 a0001c0001t0002g0010 others(6): Show |
9 | 164 | 0.0549 | -6 | c.173 others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41829696 | GATATAT | G | intron_variant | MODIFIER | HG00735.hp1 HG01952.hp1 HG03017.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0102 a0001c0001t0001g0120 a0001c0001t0001g0153 others(2): Show |
5 | 164 | 0.0305 | -6 | c.172 others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41854211 | CGCGCGG | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 a0001c0001t0007g0005 |
2 | 164 | 0.0122 | -6 | c.60- others(19): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41854222 | GCGCACA | G | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 164 | 0.0061 | -6 | c.60- others(20): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41887296 | CCACACA | C | intron_variant | MODIFIER | HG02896.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0136 a0001c0001t0003g0142 |
2 | 164 | 0.0122 | -6 | c.60- others(23): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | |||||||
CASP10_chr2_201178141_201226665 | 201194087 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(66): Show |
a0001a0002a0003others(3): Show | a0001c0006a0002c0002a0003c0004others(3): Show | a0001c0006t0012a0002c0002t0002a0002c0002t0006others(6): Show | a0001c0006t0012g0018 a0002c0002t0002g0002 a0002c0002t0002g0003 others(43): Show |
69 | 322 | 0.2143 | -6 | c.577 others(22): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASP14_chr19_15044480_15063293 | 15044858 | CTTTCTT | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00642.hp2 others(61): Show |
a0001a0004 | a0001c0001a0001c0010a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 others(27): Show |
64 | 428 | 0.1495 | -6 | c.-48 others(17): Show |
CASP14 | ENSG00000105141.6 | transcript | ENST00000427043.4 | protein_coding | 4621 | chr19 | TogoVar | |||||||
CASP14_chr19_15044480_15063293 | 15049693 | TCTCTCA | T | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp1 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0082 a0001c0001t0001g0083 |
4 | 428 | 0.0094 | -6 | c.-47 others(19): Show |
CASP14 | ENSG00000105141.6 | transcript | ENST00000427043.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CASP14_chr19_15044480_15063293 | 15049695 | TCTCACA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(46): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0031 others(15): Show |
49 | 428 | 0.1145 | -6 | c.-47 others(19): Show |
CASP14 | ENSG00000105141.6 | transcript | ENST00000427043.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CASP14_chr19_15044480_15063293 | 15049697 | TCACACA | T | intron_variant | MODIFIER | HG03239.hp2 HG04184.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 3 | 428 | 0.0070 | -6 | c.-47 others(19): Show |
CASP14 | ENSG00000105141.6 | transcript | ENST00000427043.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CASP4_chr11_104937866_104973574 | 104972199 | TAGTTTA | T | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01106.hp1 others(5): Show |
a0002 | a0002c0004a0002c0006 | a0002c0004t0003a0002c0006t0001 | a0002c0004t0003g0030 a0002c0004t0003g0056 a0002c0004t0003g0057 others(3): Show |
8 | 358 | 0.0224 | -6 | c.-36 others(17): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 3626 | chr11 | TogoVar | |||||||
CASP5_chr11_104989243_105028168 | 104990824 | TTTAAAA | T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02622.hp1 others(11): Show |
a0009a0010a0013others(1): Show | a0009c0012a0009c0013a0010c0010others(2): Show | a0009c0012t0001a0009c0013t0001a0010c0010t0001others(2): Show | a0009c0012t0001g0018 a0009c0012t0001g0095 a0009c0013t0001g0015 others(9): Show |
14 | 396 | 0.0354 | -6 | c.*35 others(17): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 3418 | chr11 | TogoVar | |||||||
CASP5_chr11_104989243_105028168 | 105002762 | TAAAAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00642.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0201 a0001c0001t0001g0292 a0001c0001t0001g0293 others(2): Show |
5 | 396 | 0.0126 | -6 | c.543 others(21): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 4/9 | chr11 | TogoVar | |||||||
CASP5_chr11_104989243_105028168 | 105005356 | ATGTGTG | A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01069.hp1 others(14): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0003c0005others(5): Show | a0002c0002t0001a0003c0003t0001a0003c0005t0001others(5): Show | a0002c0002t0001g0209 a0003c0003t0001g0016 a0003c0003t0001g0059 others(12): Show |
17 | 396 | 0.0429 | -6 | c.433 others(23): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
CASP5_chr11_104989243_105028168 | 105009714 | TACACAC | T | intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG01175.hp2 others(20): Show |
a0005a0006a0008others(4): Show | a0005c0006a0006c0007a0006c0021others(5): Show | a0005c0006t0001a0006c0007t0001a0006c0021t0001others(5): Show | a0005c0006t0001g0029 a0005c0006t0001g0041 a0005c0006t0001g0311 others(17): Show |
23 | 396 | 0.0581 | -6 | c.8-7 others(17): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
CASP5_chr11_104989243_105028168 | 105009718 | CACATAT | C | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG01099.hp2 |
a0004a0011 | a0004c0004a0011c0018 | a0004c0004t0001a0011c0018t0003 | a0004c0004t0001g0104 a0011c0018t0003g0012 |
3 | 396 | 0.0076 | -6 | c.8-7 others(17): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
CASP5_chr11_104989243_105028168 | 105009810 | CACACAT | C | intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG01175.hp2 others(18): Show |
a0005a0006a0008others(1): Show | a0005c0006a0006c0007a0008c0008others(1): Show | a0005c0006t0001a0006c0007t0001a0008c0008t0001others(1): Show | a0005c0006t0001g0029 a0005c0006t0001g0041 a0005c0006t0001g0311 others(14): Show |
21 | 396 | 0.0530 | -6 | c.8-8 others(17): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
CASP5_chr11_104989243_105028168 | 105009928 | TACACAC | T | intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG01175.hp2 others(26): Show |
a0005a0006a0008others(4): Show | a0005c0006a0006c0007a0006c0021others(5): Show | a0005c0006t0001a0006c0007t0001a0006c0021t0001others(5): Show | a0005c0006t0001g0029 a0005c0006t0001g0041 a0005c0006t0001g0311 others(22): Show |
29 | 396 | 0.0732 | -6 | c.8-9 others(17): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109706129 | TTTTATA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0018 others(12): Show |
24 | 416 | 0.0577 | -6 | c.-27 others(17): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2685 | chr4 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113678603 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01106.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0218 a0001c0001t0004g0152 a0001c0001t0004g0267 others(9): Show |
13 | 406 | 0.0320 | -6 | c.-13 others(17): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1308 | chr10 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113679022 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG02300.hp2 HG03540.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0160 a0001c0001t0003g0216 a0001c0001t0003g0220 others(4): Show |
7 | 406 | 0.0172 | -6 | c.-95 others(15): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 889 | chr10 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115768745 | GCACACA | G | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG01891.hp2 others(2): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0010a0002c0004t0016 | a0002c0003t0010g0004 a0002c0003t0010g0006 a0002c0003t0010g0007 others(2): Show |
5 | 364 | 0.0137 | -6 | c.-21 others(15): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 32 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115773214 | CTGTGTG | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01109.hp1 others(19): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(6): Show | a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0078 others(19): Show |
22 | 364 | 0.0604 | -6 | c.-46 others(17): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 4501 | chr1 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122208113 | CTTTTTA | C | intron_variant | MODIFIER | HG00323.hp1 HG03834.hp1 NA20752.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0004 a0001c0001t0009g0093 a0001c0001t0009g0094 |
4 | 314 | 0.0127 | -6 | c.-24 others(27): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASS4_chr20_56407260_56465382 | 56413672 | CAAAAAA | C | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp1 HG01169.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0002a0002c0004t0001 | a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(3): Show |
6 | 376 | 0.0160 | -6 | c.36+ others(21): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74965882 | ACTCTCT | A | intron_variant | MODIFIER | HG01515.hp1 HG02559.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0023others(4): Show | a0001c0001t0004g0201 a0001c0001t0015g0200 a0001c0001t0023g0191 others(5): Show |
8 | 228 | 0.0351 | -6 | c.113 others(21): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74976531 | TCTCCTC | T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01243.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0051 others(24): Show |
27 | 228 | 0.1184 | -6 | c.113 others(25): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74979392 | ATTTTTT | A | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01978.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0028a0001c0001t0065others(4): Show | a0001c0001t0002g0108 a0001c0001t0028g0189 a0001c0001t0065g0103 others(6): Show |
9 | 228 | 0.0395 | -6 | c.113 others(25): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 75015719 | ACTGAGC | A | intron_variant | MODIFIER | HG00544.hp2 HG01515.hp1 HG02145.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0015a0001c0001t0043others(4): Show | a0001c0001t0006g0034 a0001c0001t0006g0085 a0001c0001t0006g0147 others(10): Show |
13 | 228 | 0.0570 | -6 | c.185 others(23): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 75023471 | TTTTTTG | T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0070 | a0001c0001t0001g0083 a0001c0001t0001g0132 a0001c0001t0001g0141 others(4): Show |
7 | 228 | 0.0307 | -6 | c.830 others(21): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96661419 | GAAAAAA | G | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG02559.hp1 others(13): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0019a0001c0023others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(8): Show | a0001c0001t0001g0123 a0001c0001t0002g0036 a0001c0001t0010g0038 others(13): Show |
16 | 358 | 0.0447 | -6 | c.-10 others(16): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 956 | chr5 | TogoVar | |||||||
CAST_chr5_96657376_96779683 | 96680377 | AAAGAAG | A | intron_variant | MODIFIER | HG01257.hp1 HG01361.hp2 HG02015.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0005others(1): Show | a0001c0001t0001g0108 a0001c0001t0001g0253 a0001c0001t0002g0091 others(6): Show |
9 | 358 | 0.0251 | -6 | c.138 others(23): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10639083 | CTCGTCG | C | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00597.hp1 HG01243.hp2 others(11): Show |
a0002a0007a0011others(1): Show | a0002c0007a0002c0010a0002c0024others(5): Show | a0002c0007t0009a0002c0007t0016a0002c0010t0021others(7): Show | a0002c0007t0009g0127 a0002c0007t0009g0176 a0002c0007t0016g0048 others(11): Show |
14 | 236 | 0.0593 | -6 | c.513 others(15): Show |
p.Asp others(15): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 21/21 | 5454/7934 | 5133/5280 | 1711/1759 | chr1 | TogoVar | |||
CASZ1_chr1_10631604_10801646 | 10694584 | CCCGCCG | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01243.hp1 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(21): Show | a0001c0001t0001g0156 a0001c0001t0007g0221 a0001c0001t0013g0042 others(27): Show |
30 | 236 | 0.1271 | -6 | c.-23 others(21): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10699913 | AAGAGAG | A | intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0065 a0001c0002t0004g0069 |
2 | 236 | 0.0085 | -6 | c.-24 others(23): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10783246 | AGTGTGT | A | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02630.hp2 others(7): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0025others(7): Show | a0001c0001t0001g0092 a0001c0002t0004g0069 a0001c0002t0025g0141 others(7): Show |
10 | 236 | 0.0424 | -6 | c.-23 others(27): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10794176 | CGTGTGT | C | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0060a0002c0007t0009 | a0001c0001t0060g0175 a0002c0007t0009g0176 |
2 | 236 | 0.0085 | -6 | c.-23 others(25): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
CATSPER2_chr15_43623503_43653844 | 43627676 | TTGTGTG | T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02809.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0007a0002c0002t0002a0002c0008t0002 | a0001c0001t0007g0027 a0001c0001t0007g0028 a0002c0002t0002g0013 others(3): Show |
9 | 392 | 0.0230 | -6 | c.*30 others(17): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 826 | chr15 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91585007 | CTTTTTA | C | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01168.hp1 others(14): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0005c0011 | a0001c0002t0002a0002c0003t0002a0005c0011t0002 | a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0053 others(14): Show |
17 | 271 | 0.0627 | -6 | c.313 others(25): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 26/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91587477 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(180): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(180): Show |
183 | 271 | 0.6753 | -6 | c.305 others(23): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 25/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91607080 | TGGGCGG | T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00741.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0027 others(29): Show |
32 | 271 | 0.1181 | -6 | c.270 others(25): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 22/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91619861 | TTGTGTG | T | intron_variant | MODIFIER | HG00438.hp1 HG01175.hp1 HG01884.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0003others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0035 others(18): Show |
21 | 271 | 0.0775 | -6 | c.226 others(25): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 19/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91649331 | ATGTGTG | A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG06807.hp1 |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0004a0006c0013t0001 | a0001c0001t0004g0003 a0001c0001t0004g0004 a0006c0013t0001g0125 |
3 | 271 | 0.0111 | -6 | c.143 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91652670 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG01071.hp1 others(15): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 others(15): Show |
18 | 271 | 0.0664 | -6 | c.143 others(25): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91660112 | TCTCTCA | T | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00741.hp1 others(63): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0018 others(63): Show |
66 | 271 | 0.2435 | -6 | c.128 others(23): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91660114 | TCTCACA | T | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG02523.hp2 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0075 others(21): Show |
24 | 271 | 0.0886 | -6 | c.128 others(23): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91694438 | CAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG01069.hp1 others(31): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 others(31): Show |
34 | 271 | 0.1255 | -6 | c.617 others(21): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 7/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91714287 | AAAAAAG | A | intron_variant | MODIFIER | HG01168.hp2 HG02622.hp2 HG02818.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0002a0003c0004t0001 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(9): Show |
12 | 271 | 0.0443 | -6 | c.370 others(23): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 5/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91716712 | TACACAC | T | intron_variant | MODIFIER | HG03486.hp1 HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0002t0002g0022 |
3 | 271 | 0.0111 | -6 | c.370 others(23): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 5/26 | chr14 | TogoVar |