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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CASP7_chr10_113674912_113735905 | 113687859 | TTTC | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02818.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0002 | a0001c0001t0003g0208 a0001c0001t0003g0209 a0003c0003t0002g0121 others(1): Show |
4 | 406 | 0.0099 | -3 | c.-1+ others(18): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687909 | TTCC | T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00642.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0011a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(4): Show | a0001c0001t0002g0012 a0001c0001t0002g0241 a0001c0001t0002g0242 others(24): Show |
29 | 406 | 0.0714 | -3 | c.-1+ others(18): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687911 | CCTT | C | intron_variant | MODIFIER | HG03225.hp1 HG06807.hp1 NA18948.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0001a0003c0003t0005 | a0001c0001t0002g0255 a0002c0002t0001g0254 a0003c0003t0005g0115 others(1): Show |
4 | 406 | 0.0099 | -3 | c.-1+ others(18): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113700729 | CATG | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(360): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0001c0008others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0103 others(343): Show |
363 | 406 | 0.8941 | -3 | c.110 others(20): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 2/6 | chr10 | TogoVar | |||||||
CASP9_chr1_15486401_15529215 | 15491414 | TTTA | T | 3_prime_UTR_variant | MODIFIER | NA18989.hp2 NA18993.hp1 NA19072.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0250 a0001c0003t0004g0251 a0001c0003t0004g0252 |
3 | 350 | 0.0086 | -3 | c.*15 others(14): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 9/9 | 1526 | chr1 | TogoVar | ||||||
CASP9_chr1_15486401_15529215 | 15508723 | TTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(99): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0010a0003c0004t0001 | a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0012 others(66): Show |
102 | 350 | 0.2914 | -3 | c.419 others(18): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
CASQ1_chr1_160185575_160206886 | 160200440 | TATA | T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00642.hp2 others(68): Show |
a0001a0005a0009 | a0001c0001a0005c0011a0009c0007 | a0001c0001t0001a0001c0001t0002a0005c0011t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(16): Show |
71 | 440 | 0.1614 | -3 | c.105 others(20): Show |
CASQ1 | ENSG00000143318.13 | transcript | ENST00000368078.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115725557 | GAAA | G | splice_region_variant others(1): Show |
LOW | HG01981.hp1 HG02145.hp1 HG02145.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0014others(8): Show | a0001c0001t0002g0067 a0001c0001t0002g0104 a0001c0001t0002g0233 others(16): Show |
19 | 364 | 0.0522 | -3 | c.738 others(14): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115744141 | CAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(197): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0002g0153 a0001c0001t0002g0174 a0001c0001t0004g0192 others(195): Show |
200 | 364 | 0.5495 | -3 | c.319 others(18): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122198648 | ATGT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00735.hp1 others(54): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0010others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0179 a0001c0001t0001g0195 others(51): Show |
57 | 314 | 0.1815 | -3 | c.-24 others(24): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122218614 | TAGA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0019 others(177): Show |
186 | 314 | 0.5924 | -3 | c.-24 others(24): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122225554 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0167 others(52): Show |
56 | 314 | 0.1783 | -3 | c.-24 others(24): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122252456 | AAAG | A | intron_variant | MODIFIER | HG02683.hp2 HG03098.hp2 HG03139.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0003 | a0001c0001t0001a0001c0001t0010a0001c0001t0033others(3): Show | a0001c0001t0001g0197 a0001c0001t0010g0282 a0001c0001t0033g0176 others(4): Show |
7 | 314 | 0.0223 | -3 | c.-24 others(22): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122252470 | AAAG | A | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp2 HG02965.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0018a0001c0001t0022others(1): Show | a0001c0001t0005g0142 a0001c0001t0018g0015 a0001c0001t0022g0180 others(1): Show |
4 | 314 | 0.0127 | -3 | c.-24 others(22): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122256477 | ATTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(95): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0008others(6): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0022others(21): Show | a0001c0001t0002g0112 a0001c0001t0010g0097 a0001c0001t0010g0128 others(91): Show |
98 | 314 | 0.3121 | -3 | c.186 others(18): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122258358 | CTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0020others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(72): Show |
79 | 314 | 0.2516 | -3 | c.492 others(18): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122290093 | AAAG | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp2 others(66): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(4): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0012others(13): Show | a0001c0001t0002g0112 a0002c0002t0002g0001 a0002c0002t0002g0054 others(64): Show |
69 | 314 | 0.2198 | -3 | c.*49 others(14): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 7/7 | 4911 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASS4_chr20_56407260_56465382 | 56411992 | CTCA | C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01074.hp1 others(47): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0009others(10): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(13): Show | a0001c0001t0001g0007 a0001c0002t0002g0094 a0001c0002t0002g0099 others(45): Show |
50 | 376 | 0.1330 | -3 | c.-46 others(12): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 267 | chr20 | TogoVar | |||||||
CASS4_chr20_56407260_56465382 | 56432355 | CTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01261.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(3): Show | a0001c0001t0001g0326 a0001c0001t0007g0133 a0001c0002t0002g0003 others(8): Show |
14 | 376 | 0.0372 | -3 | c.37- others(18): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CASTOR1_chr22_30280117_30294505 | 30281434 | ATTT | A | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01069.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 |
19 | 424 | 0.0448 | -3 | c.*41 others(14): Show |
CASTOR1 | ENSG00000239282.8 | transcript | ENST00000407689.8 | protein_coding | 3682 | chr22 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74973333 | CTTT | C | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG02145.hp1 others(5): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0033a0001c0002t0085others(2): Show | a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0033g0068 others(5): Show |
8 | 228 | 0.0351 | -3 | c.113 others(20): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74975965 | GAGC | G | intron_variant | MODIFIER | HG01071.hp2 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224 a0001c0001t0003g0225 |
2 | 228 | 0.0088 | -3 | c.113 others(22): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74976531 | TCTC | T | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01109.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(25): Show | a0001c0001t0003g0057 a0001c0001t0004g0201 a0001c0001t0004g0208 others(39): Show |
42 | 228 | 0.1842 | -3 | c.113 others(22): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74982109 | ACTT | A | intron_variant | MODIFIER | HG02723.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 a0001c0002t0001g0067 |
2 | 228 | 0.0088 | -3 | c.113 others(22): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74993445 | CTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(146): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(146): Show |
149 | 228 | 0.6535 | -3 | c.114 others(22): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74999601 | CTTT | C | intron_variant | MODIFIER | HG01433.hp2 HG01975.hp2 HG02735.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(6): Show | a0001c0001t0001g0044 a0001c0001t0003g0090 a0001c0001t0020g0209 others(6): Show |
9 | 228 | 0.0395 | -3 | c.114 others(20): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96661419 | GAAA | G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00639.hp1 others(76): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(19): Show | a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0226 others(72): Show |
79 | 358 | 0.2207 | -3 | c.-10 others(14): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 956 | chr5 | TogoVar | |||||||
CAST_chr5_96657376_96779683 | 96663939 | CAAA | C | intron_variant | MODIFIER | HG01123.hp2 HG01361.hp1 HG02083.hp1 others(14): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0018a0001c0021others(6): Show | a0001c0001t0002a0001c0001t0010a0001c0018t0010others(7): Show | a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0010g0028 others(14): Show |
17 | 358 | 0.0475 | -3 | c.75+ others(18): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96680377 | AAAG | A | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02622.hp2 others(3): Show |
a0001a0002a0004 | a0001c0005a0002c0004a0002c0022others(1): Show | a0001c0005t0009a0002c0004t0005a0002c0022t0013others(1): Show | a0001c0005t0009g0007 a0001c0005t0009g0189 a0002c0004t0005g0190 others(2): Show |
6 | 358 | 0.0168 | -3 | c.138 others(20): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96684977 | ATGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(173): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0011a0001c0017others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(165): Show |
176 | 358 | 0.4916 | -3 | c.138 others(20): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96722436 | TAGC | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(82): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(16): Show | a0001c0001t0001g0169 a0001c0001t0001g0265 a0001c0001t0001g0286 others(78): Show |
85 | 358 | 0.2374 | -3 | c.211 others(18): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96765038 | TCTC | T | intron_variant | MODIFIER | HG01175.hp2 HG01346.hp1 HG01361.hp2 others(26): Show |
a0001a0002a0013 | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0001a0002c0003t0001a0002c0004t0001others(4): Show | a0001c0001t0001g0108 a0002c0003t0001g0239 a0002c0003t0001g0240 others(26): Show |
29 | 358 | 0.0810 | -3 | c.193 others(20): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96765327 | TAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00544.hp1 others(95): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0064 others(89): Show |
98 | 358 | 0.2737 | -3 | c.203 others(18): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 26/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96774920 | AATC | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp1 others(15): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0004a0001c0001t0016a0001c0001t0018others(2): Show | a0001c0001t0004g0014 a0001c0001t0004g0132 a0001c0001t0004g0133 others(13): Show |
18 | 358 | 0.0503 | -3 | c.*23 others(14): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 238 | chr5 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10657994 | CTCT | C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp2 others(5): Show |
a0001a0002 | a0001c0012a0002c0006 | a0001c0012t0001a0002c0006t0014a0002c0006t0015others(1): Show | a0001c0012t0001g0051 a0001c0012t0001g0058 a0001c0012t0001g0172 others(5): Show |
8 | 236 | 0.0339 | -3 | c.140 others(20): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 7/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10694584 | CCCG | C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp1 others(26): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(18): Show | a0001c0001t0001g0200 a0001c0001t0001g0232 a0001c0001t0004g0185 others(26): Show |
29 | 236 | 0.1229 | -3 | c.-23 others(18): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10701526 | GGGA | G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG02083.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0002a0001c0003t0045others(1): Show | a0001c0001t0006g0214 a0001c0003t0002g0046 a0001c0003t0002g0105 others(4): Show |
7 | 236 | 0.0297 | -3 | c.-24 others(20): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10738918 | GTTT | G | intron_variant | MODIFIER | HG02818.hp1 NA18612.hp1 NA18612.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0102 a0001c0001t0001g0192 a0001c0001t0004g0129 others(2): Show |
5 | 236 | 0.0212 | -3 | c.-77 others(22): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10757240 | AGAG | A | intron_variant | MODIFIER | HG02615.hp2 HG02976.hp1 NA18522.hp2 |
a0001a0002 | a0001c0001a0001c0009a0002c0031 | a0001c0001t0014a0001c0009t0002a0002c0031t0009 | a0001c0001t0014g0224 a0001c0009t0002g0049 a0002c0031t0009g0162 |
3 | 236 | 0.0127 | -3 | c.-77 others(20): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10771657 | TTCC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(115): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(65): Show | a0001c0001t0001g0079 a0001c0001t0001g0095 a0001c0001t0001g0096 others(115): Show |
118 | 236 | 0.5000 | -3 | c.-23 others(24): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
CATIP_chr2_218351857_218373094 | 218373045 | GTGT | G | downstream_gene_variant | MODIFIER | HG01346.hp2 HG01943.hp2 NA18971.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0168 a0001c0001t0001g0169 others(1): Show |
6 | 366 | 0.0164 | -3 | c.*50 others(14): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 4952 | chr2 | TogoVar | |||||||
CATSPER2_chr15_43623503_43653844 | 43639410 | ATTT | A | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG01255.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0009 | a0001c0001t0002g0194 a0002c0002t0002g0162 a0002c0002t0002g0163 others(3): Show |
6 | 392 | 0.0153 | -3 | c.717 others(18): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 6/12 | chr15 | TogoVar | |||||||
CATSPER2_chr15_43623503_43653844 | 43641108 | GTTT | G | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012 a0001c0001t0006g0130 a0001c0001t0006g0131 |
6 | 392 | 0.0153 | -3 | c.389 others(18): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | chr15 | TogoVar | |||||||
CATSPER2_chr15_43623503_43653844 | 43648101 | CTTG | C | intron_variant | MODIFIER | HG02976.hp1 HG03579.hp1 HG06807.hp1 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0196 a0002c0002t0009g0197 a0002c0002t0009g0198 |
3 | 392 | 0.0077 | -3 | c.-2- others(14): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
CATSPER3_chr5_134962907_135016696 | 134988333 | GACA | G | intron_variant | MODIFIER | HG00738.hp1 HG02451.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0287 a0001c0003t0001g0284 a0001c0003t0001g0285 others(1): Show |
4 | 380 | 0.0105 | -3 | c.253 others(20): Show |
CATSPER3 | ENSG00000152705.8 | transcript | ENST00000282611.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CATSPER4_chr1_26185602_26207964 | 26196402 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(84): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0047 others(39): Show |
87 | 398 | 0.2186 | -3 | c.460 others(20): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPER4_chr1_26185602_26207964 | 26207778 | AAAG | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0002g0002 others(29): Show |
39 | 398 | 0.0980 | -3 | c.*52 others(14): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 4815 | chr1 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91576141 | ATTT | A | downstream_gene_variant | MODIFIER | HG02818.hp1 HG02897.hp1 NA18939.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0001 | a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0001g0192 others(3): Show |
6 | 271 | 0.0221 | -3 | c.*47 others(14): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 4556 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91584989 | TTTC | T | intron_variant | MODIFIER | HG01891.hp2 HG02970.hp2 NA18747.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0074 others(9): Show |
12 | 271 | 0.0443 | -3 | c.313 others(22): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 26/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91593910 | CGCT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(213): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(213): Show |
216 | 271 | 0.7971 | -3 | c.271 others(22): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 22/26 | chr14 | TogoVar |