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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CASK_chrX_41509934_41928554 | 41829696 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG01261.hp1 HG01943.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0070a0001c0001t0001g0104a0001c0001t0001g0112others(8): Show | 11 | 164 | 0.0671 | -8 | c.172 others(27): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41887296 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02145.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0161a0001c0001t0003g0151a0001c0001t0006g0037others(3): Show | 6 | 164 | 0.0366 | -8 | c.60- others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
CASP10_chr2_201178141_201226665 | 201183856 | CTTTATTT others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02280.hp2 others(32): Show |
a0001a0007a0009 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0020a0001c0001t0001g0054a0001c0001t0001g0067others(28): Show | 35 | 322 | 0.1087 | -8 | c.-8+ others(21): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CASP14_chr19_15044480_15063293 | 15044858 | CTTTCTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01109.hp2 others(26): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0072others(19): Show | 29 | 428 | 0.0678 | -8 | c.-48 others(19): Show |
CASP14 | ENSG00000105141.6 | transcript | ENST00000427043.4 | protein_coding | 4621 | chr19 | TogoVar | ||||||
CASP14_chr19_15044480_15063293 | 15049693 | TCTCTCAC others(1): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0026a0001c0001t0004g0041a0001c0001t0004g0084 | 6 | 428 | 0.0140 | -8 | c.-47 others(21): Show |
CASP14 | ENSG00000105141.6 | transcript | ENST00000427043.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CASP1_chr11_105020508_105040144 | 105021167 | ATTAAAGA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01256.hp1 HG01258.hp1 others(8): Show |
a0001a0005 | a0001c0002a0005c0008 | a0001c0002t0006a0005c0008t0006 | a0001c0002t0006g0012a0001c0002t0006g0019a0001c0002t0006g0026others(2): Show | 11 | 398 | 0.0276 | -8 | c.*50 others(19): Show |
CASP1 | ENSG00000137752.25 | transcript | ENST00000533400.6 | protein_coding | 4340 | chr11 | TogoVar | ||||||
CASP5_chr11_104989243_105028168 | 105009712 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02809.hp1 HG03041.hp2 others(1): Show |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0044a0006c0008t0001g0227a0006c0008t0001g0322 | 4 | 396 | 0.0101 | -8 | c.8-7 others(19): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
CASP5_chr11_104989243_105028168 | 105009718 | CACATATA others(1): Show |
C | intron_variant | MODIFIER | HG03710.hp1 NA18944.hp2 NA18946.hp2 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0001a0004c0004t0001 | a0001c0001t0001g0106a0003c0003t0001g0073a0004c0004t0001g0136others(1): Show | 4 | 396 | 0.0101 | -8 | c.8-7 others(19): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
CASP5_chr11_104989243_105028168 | 105021167 | ATTAAAGA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01256.hp1 HG01258.hp2 others(9): Show |
a0003a0004a0007 | a0003c0003a0003c0005a0004c0004others(1): Show | a0003c0003t0001a0003c0005t0001a0004c0004t0001others(1): Show | a0003c0003t0001g0014a0003c0003t0001g0045a0003c0003t0001g0046others(6): Show | 12 | 396 | 0.0303 | -8 | c.7+1 others(21): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706129 | TTTTATAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00735.hp2 others(53): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0018others(28): Show | 56 | 416 | 0.1346 | -8 | c.-27 others(19): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2685 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706176 | CACACATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0060 | 7 | 416 | 0.0168 | -8 | c.-27 others(19): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2732 | chr4 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113678603 | CGTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0004g0060a0001c0001t0004g0067a0001c0001t0004g0068others(31): Show | 34 | 406 | 0.0837 | -8 | c.-13 others(19): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1308 | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113679022 | CGTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG03471.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0014a0002c0002t0001 | a0001c0001t0005g0382a0001c0001t0005g0384a0001c0001t0014g0151others(3): Show | 6 | 406 | 0.0148 | -8 | c.-95 others(17): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 889 | chr10 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687794 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0008a0001c0001t0004g0152a0001c0001t0004g0153others(1): Show | 5 | 406 | 0.0123 | -8 | c.-1+ others(23): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CASP7_chr10_113674912_113735905 | 113687846 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG02970.hp2 HG03139.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0015a0002c0002t0001g0278 | 3 | 406 | 0.0074 | -8 | c.-1+ others(23): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CASP7_chr10_113674912_113735905 | 113687959 | CCTTCCTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG01257.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0335a0002c0002t0001g0002a0002c0002t0001g0273others(9): Show | 14 | 406 | 0.0345 | -8 | c.-1+ others(23): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CASP8_chr2_201255536_201292709 | 201258756 | TATTCTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(273): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(175): Show | 276 | 386 | 0.7150 | -8 | c.-18 others(19): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 1779 | chr2 | TogoVar | ||||||
CASP9_chr1_15486401_15529215 | 15490220 | ATATCTAT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp1 others(85): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0003others(5): Show | a0001c0002t0001g0031a0001c0002t0001g0126a0001c0002t0001g0153others(67): Show | 88 | 350 | 0.2514 | -8 | c.*27 others(19): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 1180 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115742768 | CTGTTTGT others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01081.hp2 others(92): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(11): Show | a0001c0001t0002g0001a0001c0001t0002g0050a0001c0001t0002g0051others(91): Show | 95 | 364 | 0.2610 | -8 | c.320 others(25): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115766865 | TGATAGAT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02132.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0002g0053a0001c0001t0005g0165a0001c0001t0008g0021others(7): Show | 10 | 364 | 0.0275 | -8 | c.234 others(25): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115773214 | CTGTGTGT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01074.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0019others(5): Show | a0001c0001t0002g0111a0001c0001t0002g0112a0001c0001t0005g0002others(13): Show | 17 | 364 | 0.0467 | -8 | c.-46 others(19): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 4501 | chr1 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122200997 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp1 others(62): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0008a0001c0001t0001g0121a0001c0001t0001g0134others(60): Show | 65 | 314 | 0.2070 | -8 | c.-24 others(29): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASTOR2_chr7_74959705_75036528 | 74963104 | GTGGCTTA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01071.hp2 HG01346.hp1 HG02132.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0064a0001c0001t0072 | a0001c0001t0003g0224a0001c0001t0003g0225a0001c0001t0064g0089others(1): Show | 4 | 228 | 0.0175 | -8 | c.-18 others(19): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1600 | chr7 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10694680 | TCGCGCCC others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02258.hp1 others(12): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0007others(11): Show | a0001c0001t0001g0061a0001c0001t0001g0092a0001c0002t0004g0138others(12): Show | 15 | 236 | 0.0636 | -8 | c.-23 others(23): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10767877 | GCATCACC others(1): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02976.hp1 NA18522.hp2 |
a0001a0002 | a0001c0009a0002c0031a0002c0037 | a0001c0009t0002a0002c0031t0009a0002c0037t0061 | a0001c0009t0002g0049a0002c0031t0009g0162a0002c0037t0061g0174 | 3 | 236 | 0.0127 | -8 | c.-23 others(27): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
CATIP_chr2_218351857_218373094 | 218365800 | CCTCTTTC others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0119a0001c0001t0001g0126others(1): Show | 6 | 366 | 0.0164 | -8 | c.755 others(25): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CATSPERB_chr14_91575698_91737086 | 91612012 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG04199.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0058a0001c0002t0002g0067a0001c0002t0002g0103others(1): Show | 4 | 271 | 0.0148 | -8 | c.240 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 20/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91612059 | TCTTTCTT others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01071.hp2 others(54): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0015others(54): Show | 57 | 271 | 0.2103 | -8 | c.240 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 20/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91619861 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp2 HG01167.hp1 others(54): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0028others(54): Show | 57 | 271 | 0.2103 | -8 | c.226 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 19/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91649331 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01243.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0058a0001c0001t0001g0116others(8): Show | 11 | 271 | 0.0406 | -8 | c.143 others(29): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5716259 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01257.hp2 HG02004.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0005others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0005t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0033a0001c0001t0001g0041others(14): Show | 17 | 336 | 0.0506 | -8 | c.-44 others(19): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4377 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5731330 | AGTGTGGT others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00642.hp1 others(76): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(10): Show | a0001c0001t0001g0006a0001c0001t0001g0038a0001c0001t0001g0039others(76): Show | 79 | 336 | 0.2351 | -8 | c.276 others(25): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5743683 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00735.hp1 others(87): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0045a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0045t0001others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0038others(87): Show | 90 | 336 | 0.2679 | -8 | c.574 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5751197 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02717.hp2 others(3): Show |
a0001a0003a0023 | a0001c0001a0003c0004a0023c0026 | a0001c0001t0001a0003c0004t0001a0023c0026t0002 | a0001c0001t0001g0225a0001c0001t0001g0231a0001c0001t0001g0232others(3): Show | 6 | 336 | 0.0179 | -8 | c.988 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5761416 | AATGGATG others(1): Show |
A | intron_variant | MODIFIER | HG02129.hp2 HG02135.hp2 NA18954.hp2 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0079a0004c0003t0001g0272a0004c0003t0001g0302 | 3 | 336 | 0.0089 | -8 | c.142 others(27): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5765405 | TATTCATT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01099.hp1 HG01169.hp1 others(13): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0040a0003c0004others(2): Show | a0001c0001t0001a0001c0040t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0033a0001c0001t0001g0062a0001c0001t0001g0082others(13): Show | 16 | 336 | 0.0476 | -8 | c.150 others(25): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5779062 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp2 HG01928.hp1 HG02056.hp1 others(20): Show |
a0003a0004a0008others(5): Show | a0003c0004a0003c0005a0003c0043others(7): Show | a0003c0004t0001a0003c0004t0003a0003c0005t0001others(8): Show | a0003c0004t0001g0022a0003c0004t0001g0148a0003c0004t0001g0149others(20): Show | 23 | 336 | 0.0685 | -8 | c.*38 others(17): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 329 | chr19 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244471842 | CATGTACA others(1): Show |
C | intron_variant | MODIFIER | HG02083.hp1 NA18943.hp1 NA19002.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0151a0001c0001t0004g0166a0001c0001t0004g0167others(2): Show | 5 | 206 | 0.0243 | -8 | c.115 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244489450 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00621.hp2 others(66): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0020others(66): Show | 69 | 206 | 0.3350 | -8 | c.327 others(23): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244565728 | TTTCATAG others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001a0006a0008 | a0001c0002a0006c0010a0008c0024 | a0001c0002t0001a0006c0010t0001a0008c0024t0001 | a0001c0002t0001g0088a0006c0010t0001g0137a0006c0010t0001g0138others(1): Show | 4 | 206 | 0.0194 | -8 | c.150 others(27): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244582910 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | NA19062.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115a0001c0001t0002g0126 | 2 | 206 | 0.0097 | -8 | c.201 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERG_chr19_38330830_38375943 | 38344856 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00621.hp2 others(40): Show |
a0001a0015 | a0001c0005a0001c0008a0001c0013others(3): Show | a0001c0005t0001a0001c0008t0001a0001c0013t0001others(3): Show | a0001c0005t0001g0003a0001c0005t0001g0004a0001c0005t0001g0005others(37): Show | 43 | 376 | 0.1144 | -8 | c.669 others(23): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116523083 | AGAAGGAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0016others(64): Show | 67 | 342 | 0.1959 | -8 | c.-19 others(19): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1952 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555448 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02258.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0013a0001c0001t0006g0014a0001c0001t0006g0015others(3): Show | 6 | 342 | 0.0175 | -8 | c.196 others(25): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116562940 | GAGGAAGG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02809.hp2 HG02970.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0012 | a0001c0001t0001g0024a0001c0001t0010g0306a0001c0001t0010g0307others(1): Show | 4 | 342 | 0.0117 | -8 | c.*36 others(19): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1762 | chr7 | TogoVar | ||||||
CAV2_chr7_116494738_116513541 | 116503886 | AGAGGGAG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(273): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0014others(45): Show | 276 | 374 | 0.7380 | -8 | c.339 others(25): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV2_chr7_116494738_116513541 | 116503923 | AAGGGAGG others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(2): Show | a0001c0001t0003g0003a0001c0001t0003g0012a0001c0001t0003g0051others(5): Show | 54 | 374 | 0.1444 | -8 | c.339 others(25): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV2_chr7_116494738_116513541 | 116507675 | AAAAAAAA others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(170): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0014others(33): Show | 173 | 374 | 0.4626 | -8 | c.*15 others(19): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 3/3 | 1577 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CAVIN1_chr17_42397449_42428256 | 42413566 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp2 others(60): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0002g0023others(56): Show | 63 | 338 | 0.1864 | -8 | c.472 others(25): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CAVIN4_chr9_100573079_100593389 | 100583616 | TATTCATT others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp2 HG01243.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0016 | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0055others(2): Show | 12 | 382 | 0.0314 | -8 | c.409 others(25): Show |
CAVIN4 | ENSG00000170681.7 | transcript | ENST00000307584.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |