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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CASQ2_chr1_115695021_115773714 | 115761497 | G | GAGAAGAA others(5): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0022 | 1 | 364 | 0.0028 | 12 | c.234 others(29): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115773214 | C | CTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 364 | 0.0028 | 12 | c.-46 others(23): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 4501 | chr1 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AAAAGAAA others(5): Show |
intron_variant | MODIFIER | HG01099.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0057a0001c0001t0009g0081 | 2 | 314 | 0.0064 | 12 | c.-24 others(31): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAAAA others(5): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02145.hp1 HG03225.hp2 others(2): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0221a0001c0001t0003g0035a0001c0001t0005g0147others(2): Show | 5 | 314 | 0.0159 | 12 | c.-24 others(31): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122252409 | A | AGGAAGGA others(5): Show |
intron_variant | MODIFIER | HG01074.hp2 NA18979.hp2 NA20129.hp2 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0002a0003c0004t0008 | a0002c0002t0002g0091a0003c0004t0008g0069a0003c0004t0008g0164 | 3 | 314 | 0.0096 | 12 | c.-24 others(31): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122272091 | G | GTACACAC others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0206a0001c0001t0003g0289 | 2 | 314 | 0.0064 | 12 | c.137 others(31): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74960712 | A | ATATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0034 | 1 | 228 | 0.0044 | 12 | c.-42 others(23): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 3992 | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74995511 | G | GAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 228 | 0.0044 | 12 | c.114 others(31): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASTOR2_chr7_74959705_75036528 | 75026188 | G | GTTTTTTT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG01975.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0209a0001c0001t0020g0215 | 2 | 228 | 0.0088 | 12 | c.*14 others(23): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 9/9 | 1490 | chr7 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96666257 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00621.hp1 others(58): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0017a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0068others(57): Show | 61 | 358 | 0.1704 | 12 | c.75+ others(27): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96680354 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02074.hp1 HG02083.hp1 others(21): Show |
a0001a0002a0009 | a0001c0001a0001c0011a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0011t0002others(2): Show | a0001c0001t0001g0068a0001c0001t0002g0003a0001c0001t0002g0055others(20): Show | 24 | 358 | 0.0670 | 12 | c.138 others(29): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96696606 | G | GCAGGAGG others(5): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 358 | 0.0028 | 12 | c.210 others(27): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96696686 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01168.hp1 HG01169.hp1 others(10): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0010 | a0001c0001t0004a0001c0001t0016a0001c0002t0001others(2): Show | a0001c0001t0004g0132a0001c0001t0004g0133a0001c0001t0004g0134others(9): Show | 13 | 358 | 0.0363 | 12 | c.210 others(27): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96752961 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0133a0001c0001t0019g0332 | 2 | 358 | 0.0056 | 12 | c.152 others(31): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CASZ1_chr1_10631604_10801646 | 10700078 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0014 | a0002c0014t0039 | a0002c0014t0039g0148 | 1 | 236 | 0.0042 | 12 | c.-24 others(29): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10700080 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03516.hp2 HG04204.hp2 others(1): Show |
a0001a0002a0003 | a0001c0003a0001c0004a0002c0014others(1): Show | a0001c0003t0005a0001c0004t0023a0002c0014t0035others(1): Show | a0001c0003t0005g0039a0001c0004t0023g0086a0002c0014t0035g0112others(1): Show | 4 | 236 | 0.0170 | 12 | c.-24 others(29): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10741790 | T | TTATATTT others(5): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18950.hp2 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0006a0001c0023t0053 | a0001c0001t0006g0214a0001c0023t0053g0131 | 2 | 236 | 0.0085 | 12 | c.-77 others(31): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
CATIP_chr2_218351857_218373094 | 218357259 | G | GTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01109.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017a0001c0001t0001g0031a0001c0001t0001g0126others(5): Show | 11 | 366 | 0.0301 | 12 | c.118 others(26): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CATIP_chr2_218351857_218373094 | 218359341 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02809.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0175 | 3 | 366 | 0.0082 | 12 | c.376 others(29): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CATSPER1_chr11_66011752_66031479 | 66027488 | A | ATTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02970.hp1 |
a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0023 | 2 | 408 | 0.0049 | 12 | c.-11 others(23): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 1010 | chr11 | TogoVar | ||||||
CATSPER2_chr15_43623503_43653844 | 43627676 | T | TTGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0147 | 1 | 392 | 0.0026 | 12 | c.*30 others(23): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 826 | chr15 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91586561 | G | GAGAGAGA others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03490.hp2 HG03492.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101a0001c0001t0001g0133a0001c0001t0001g0206others(2): Show | 5 | 271 | 0.0185 | 12 | c.313 others(29): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 26/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91586563 | G | GAGAGAGA others(5): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 271 | 0.0037 | 12 | c.313 others(29): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 26/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91586565 | G | GAGAGAGA others(5): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02004.hp2 HG02015.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0003a0003c0004t0001 | a0001c0001t0001g0015a0001c0001t0001g0044a0001c0001t0001g0057others(10): Show | 13 | 271 | 0.0480 | 12 | c.313 others(29): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 26/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91586571 | A | AAGAGAGA others(5): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 271 | 0.0037 | 12 | c.313 others(29): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 26/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91612012 | T | TTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01516.hp1 HG01891.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(4): Show | a0001c0001t0001g0036a0001c0001t0001g0062a0001c0001t0001g0091others(21): Show | 24 | 271 | 0.0886 | 12 | c.240 others(31): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 20/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91650707 | T | TCCATCCA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00741.hp2 others(17): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0001g0107others(17): Show | 20 | 271 | 0.0738 | 12 | c.143 others(31): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91661524 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02738.hp1 HG02738.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0029a0001c0001t0001g0035a0001c0001t0001g0036others(17): Show | 20 | 271 | 0.0738 | 12 | c.128 others(31): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 14/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91702675 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02647.hp2 HG03209.hp2 others(6): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0003c0004t0001others(1): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0045others(6): Show | 9 | 271 | 0.0332 | 12 | c.616 others(29): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 7/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91709524 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 271 | 0.0037 | 12 | c.371 others(29): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 5/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91736501 | A | AAAGGAAG others(5): Show |
upstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 271 | 0.0037 | 12 | c.-45 others(23): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 4416 | chr14 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5716253 | A | AATATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0040 | 1 | 336 | 0.0030 | 12 | c.-44 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4383 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5716259 | C | CATATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01109.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0037others(2): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0039a0001c0001t0001g0177a0001c0001t0001g0195others(8): Show | 11 | 336 | 0.0327 | 12 | c.-44 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4377 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5730561 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(207): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0016a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0041a0001c0001t0001g0045a0001c0001t0001g0046others(207): Show | 210 | 336 | 0.6250 | 12 | c.276 others(27): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5731560 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01106.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0091a0001c0001t0001g0100a0001c0001t0001g0136others(2): Show | 5 | 336 | 0.0149 | 12 | c.276 others(29): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5733335 | C | CTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0280 | 1 | 336 | 0.0030 | 12 | c.277 others(27): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5739842 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02735.hp2 HG03490.hp2 others(1): Show |
a0001a0002a0026 | a0001c0001a0002c0002a0026c0033 | a0001c0001t0001a0002c0002t0001a0026c0033t0001 | a0001c0001t0001g0086a0001c0001t0001g0090a0002c0002t0001g0049others(1): Show | 4 | 336 | 0.0119 | 12 | c.573 others(27): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5741785 | C | CCGGGGGG others(5): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 336 | 0.0030 | 12 | c.573 others(29): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5741785 | C | CGGGGGGG others(5): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01106.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(3): Show | a0001c0001t0001g0063a0001c0001t0001g0136a0002c0002t0001g0068others(6): Show | 9 | 336 | 0.0268 | 12 | c.573 others(29): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5741800 | G | GGGGGGGG others(5): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03130.hp2 |
a0001a0012 | a0001c0001a0012c0015 | a0001c0001t0005a0012c0015t0001 | a0001c0001t0005g0142a0012c0015t0001g0125 | 2 | 336 | 0.0060 | 12 | c.573 others(29): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5761441 | A | ATGGATGG others(5): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02896.hp2 HG02897.hp1 others(2): Show |
a0014a0017a0027 | a0014c0017a0017c0014a0027c0036 | a0014c0017t0002a0017c0014t0002a0027c0036t0001 | a0014c0017t0002g0223a0014c0017t0002g0224a0017c0014t0002g0011others(2): Show | 5 | 336 | 0.0149 | 12 | c.142 others(31): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5762041 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 336 | 0.0030 | 12 | c.142 others(31): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02257.hp2 HG03579.hp2 |
a0001a0003a0007 | a0001c0001a0003c0004a0007c0010 | a0001c0001t0002a0003c0004t0001a0007c0010t0001 | a0001c0001t0002g0147a0003c0004t0001g0336a0007c0010t0001g0026 | 3 | 336 | 0.0089 | 12 | c.142 others(31): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02735.hp2 |
a0003a0026 | a0003c0004a0026c0033 | a0003c0004t0001a0026c0033t0001 | a0003c0004t0001g0098a0026c0033t0001g0301 | 2 | 336 | 0.0060 | 12 | c.142 others(31): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5763847 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02027.hp1 HG02572.hp2 others(3): Show |
a0003 | a0003c0004a0003c0005a0003c0041 | a0003c0004t0001a0003c0005t0001a0003c0041t0001 | a0003c0004t0001g0216a0003c0004t0001g0230a0003c0004t0001g0281others(3): Show | 6 | 336 | 0.0179 | 12 | c.150 others(29): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5768320 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02015.hp2 HG02257.hp2 others(5): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0016a0002c0002others(2): Show | a0001c0001t0002a0001c0016t0001a0002c0002t0001others(2): Show | a0001c0001t0002g0107a0001c0001t0002g0147a0001c0001t0002g0226others(5): Show | 8 | 336 | 0.0238 | 12 | c.163 others(28): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244528785 | C | CCACACAC others(5): Show |
intron_variant | MODIFIER | HG00621.hp1 HG04115.hp1 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048a0001c0001t0002g0108a0001c0001t0002g0123 | 3 | 206 | 0.0146 | 12 | c.536 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244528785 | C | CCACGCAC others(5): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0023 | a0004c0023t0001 | a0004c0023t0001g0077 | 1 | 206 | 0.0049 | 12 | c.536 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244553602 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00323.hp1 NA19065.hp1 NA19086.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0020a0001c0001t0001g0090a0001c0002t0002g0039 | 3 | 206 | 0.0146 | 12 | c.102 others(29): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244557532 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0038a0001c0001t0001g0120a0001c0001t0002g0112others(10): Show | 13 | 206 | 0.0631 | 12 | c.103 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |