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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARF_chr2_202907275_202993263 | 202969578 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG01168.hp2 others(16): Show |
a0002 | a0002c0002a0002c0012 | a0002c0002t0012a0002c0002t0015a0002c0002t0022others(6): Show | a0002c0002t0012g0307a0002c0002t0012g0312a0002c0002t0012g0314others(16): Show | 19 | 334 | 0.0569 | -16 | c.954 others(31): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202980616 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02976.hp2 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0001c0001t0100a0001c0001t0101others(2): Show | a0001c0001t0015g0009a0001c0001t0100g0009a0001c0001t0101g0240others(2): Show | 5 | 334 | 0.0150 | -16 | c.155 others(33): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARHSP1_chr16_8847947_8874006 | 8861158 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG02015.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0069a0001c0001t0001g0104a0001c0001t0001g0277others(5): Show | 8 | 470 | 0.0170 | -16 | c.-7- others(31): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25296926 | TATCTATC others(9): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01106.hp1 |
a0002a0005 | a0002c0007a0005c0019 | a0002c0007t0006a0005c0019t0001 | a0002c0007t0006g0033a0002c0007t0006g0035a0005c0019t0001g0034 | 3 | 186 | 0.0161 | -16 | c.138 others(35): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25300145 | TTTACAGT others(9): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01106.hp1 |
a0002a0005 | a0002c0007a0005c0019 | a0002c0007t0006a0005c0019t0001 | a0002c0007t0006g0033a0002c0007t0006g0035a0005c0019t0001g0034 | 3 | 186 | 0.0161 | -16 | c.138 others(35): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25305412 | TGGGTTTC others(9): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0116 | 1 | 186 | 0.0054 | -16 | c.138 others(35): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25346303 | CAGGCCTG others(9): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 186 | 0.0054 | -16 | c.138 others(35): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25390312 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG02083.hp1 HG03491.hp1 HG03669.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0022others(1): Show | a0001c0001t0007a0001c0004t0004a0001c0022t0002others(1): Show | a0001c0001t0007g0143a0001c0004t0004g0040a0001c0022t0002g0108others(1): Show | 4 | 186 | 0.0215 | -16 | c.139 others(35): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25392054 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp2 |
a0001a0006 | a0001c0001a0006c0016 | a0001c0001t0015a0006c0016t0005 | a0001c0001t0015g0184a0006c0016t0005g0168 | 2 | 186 | 0.0108 | -16 | c.139 others(35): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25434518 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG03239.hp1 HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0012 | a0001c0012t0006 | a0001c0012t0006g0118a0001c0012t0006g0119a0001c0012t0006g0120 | 3 | 186 | 0.0161 | -16 | c.250 others(31): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25490738 | TAAATAAA others(9): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG01884.hp1 others(17): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0008a0001c0001t0015a0001c0002t0001others(13): Show | a0001c0001t0008g0133a0001c0001t0015g0176a0001c0001t0015g0184others(17): Show | 20 | 186 | 0.1075 | -16 | c.106 others(33): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25526150 | CAAATAAA others(9): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp2 |
a0002a0008 | a0002c0005a0008c0035 | a0002c0005t0005a0008c0035t0004 | a0002c0005t0005g0158a0008c0035t0004g0107 | 2 | 186 | 0.0108 | -16 | c.196 others(35): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25607165 | AACAAACA others(9): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0044 | 1 | 186 | 0.0054 | -16 | c.384 others(33): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARNMT1_chr9_74975790_75033293 | 75005827 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00621.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0069a0001c0001t0001g0101others(5): Show | 9 | 366 | 0.0246 | -16 | c.591 others(33): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
CARNS1_chr11_67410678_67430604 | 67427073 | GTTTTTTT others(9): Show |
G | downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0006 | 1 | 346 | 0.0029 | -16 | c.*24 others(27): Show |
CARNS1 | ENSG00000172508.11 | transcript | ENST00000687366.1 | protein_coding | 1470 | chr11 | TogoVar | ||||||
CARS1_chr11_2995929_3062423 | 3032048 | CTCCCTCC others(9): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01257.hp1 HG01258.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0023others(28): Show | 33 | 321 | 0.1028 | -16 | c.802 others(33): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
CARS1_chr11_2995929_3062423 | 3032052 | CTCCCTCC others(9): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0190 | 3 | 321 | 0.0094 | -16 | c.802 others(33): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
CARS1_chr11_2995929_3062423 | 3032056 | CTCCCTCC others(9): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0008 | a0008c0019 | a0008c0019t0001 | a0008c0019t0001g0245 | 1 | 321 | 0.0031 | -16 | c.802 others(33): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
CARS1_chr11_2995929_3062423 | 3032060 | CTCCTTCC others(9): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG06807.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0248a0001c0001t0001g0249 | 4 | 321 | 0.0125 | -16 | c.802 others(33): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110654926 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 372 | 0.0027 | -16 | c.988 others(33): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 9/14 | chr13 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110679569 | GAGAGAGA others(9): Show |
G | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 372 | 0.0027 | -16 | c.656 others(33): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40140337 | CACACACA others(9): Show |
C | upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 266 | 0.0038 | -16 | c.-21 others(25): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 199 | chr17 | TogoVar | ||||||
CASD1_chr7_94504809_94562019 | 94559276 | CTGTGTGT others(9): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp2 HG03209.hp1 NA20129.hp1 |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0006a0004c0010t0006 | a0001c0001t0006g0219a0001c0001t0006g0220a0004c0010t0006g0218 | 3 | 398 | 0.0075 | -16 | c.*35 others(27): Show |
CASD1 | ENSG00000127995.17 | transcript | ENST00000297273.9 | protein_coding | 2258 | chr7 | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41510388 | CATATATA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0051a0001c0001t0001g0053a0001c0001t0001g0054others(1): Show | 4 | 164 | 0.0244 | -16 | c.*10 others(29): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 4545 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41665535 | AATCCAAA others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(95): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0023others(95): Show | 98 | 164 | 0.5976 | -16 | c.533 others(29): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 6/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41770309 | TACCTATC others(9): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 164 | 0.0061 | -16 | c.278 others(35): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 3/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41854222 | GCGCACAC others(9): Show |
G | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 164 | 0.0061 | -16 | c.60- others(30): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41887296 | CCACACAC others(9): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0008 | 1 | 164 | 0.0061 | -16 | c.60- others(33): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
CASP14_chr19_15044480_15063293 | 15049687 | TCTCTCTC others(9): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0059 | 1 | 428 | 0.0023 | -16 | c.-47 others(29): Show |
CASP14 | ENSG00000105141.6 | transcript | ENST00000427043.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CASP5_chr11_104989243_105028168 | 105005352 | ATATATGT others(9): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01243.hp1 HG02572.hp1 others(8): Show |
a0005a0006a0008others(1): Show | a0005c0006a0006c0008a0008c0007others(1): Show | a0005c0006t0001a0006c0008t0001a0008c0007t0001others(1): Show | a0005c0006t0001g0029a0005c0006t0001g0041a0005c0006t0001g0311others(6): Show | 11 | 396 | 0.0278 | -16 | c.433 others(33): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
CASP5_chr11_104989243_105028168 | 105009718 | CACATATA others(9): Show |
C | intron_variant | MODIFIER | NA18972.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0104 | 1 | 396 | 0.0025 | -16 | c.8-7 others(27): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
CASP5_chr11_104989243_105028168 | 105009755 | ATATACAC others(9): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0045a0003c0003t0001g0047 | 2 | 396 | 0.0051 | -16 | c.8-7 others(27): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109705991 | AAAAAAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02165.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0017a0001c0001t0009g0020 | 2 | 416 | 0.0048 | -16 | c.-26 others(27): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2547 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109705993 | AAAAAAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp1 HG03654.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0121a0001c0001t0002g0122a0001c0001t0009g0020 | 3 | 416 | 0.0072 | -16 | c.-26 others(27): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2549 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109705995 | AAAAAAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG03704.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0016a0001c0001t0004g0076 | 2 | 416 | 0.0048 | -16 | c.-26 others(27): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2551 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706131 | TTATATAT others(9): Show |
T | upstream_gene_variant | MODIFIER | NA18940.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 416 | 0.0048 | -16 | c.-27 others(27): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2687 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706156 | TATATATA others(9): Show |
T | upstream_gene_variant | MODIFIER | HG02895.hp1 HG03540.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 3 | 416 | 0.0072 | -16 | c.-27 others(27): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2712 | chr4 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687916 | TTTCCTTC others(9): Show |
T | intron_variant | MODIFIER | HG02970.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 2 | 406 | 0.0049 | -16 | c.-1+ others(31): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CASP8_chr2_201255536_201292709 | 201268909 | TTGTGTGT others(9): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0257a0001c0001t0005g0258 | 2 | 386 | 0.0052 | -16 | c.305 others(33): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CASP9_chr1_15486401_15529215 | 15490220 | ATATCTAT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02976.hp1 HG03130.hp1 others(1): Show |
a0001a0005 | a0001c0003a0005c0007 | a0001c0003t0003a0005c0007t0001 | a0001c0003t0003g0041a0001c0003t0003g0245a0005c0007t0001g0120 | 4 | 350 | 0.0114 | -16 | c.*27 others(27): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 1180 | chr1 | TogoVar | ||||||
CASP9_chr1_15486401_15529215 | 15503481 | CATGTCAA others(9): Show |
C | intron_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0046 | 1 | 350 | 0.0029 | -16 | c.868 others(33): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 6/8 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115766865 | TGATAGAT others(9): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0001a0001c0001t0002g0051a0001c0001t0002g0124others(6): Show | 10 | 364 | 0.0275 | -16 | c.234 others(33): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115773214 | CTGTGTGT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0158 | 1 | 364 | 0.0028 | -16 | c.-46 others(27): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 4501 | chr1 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122293165 | GGTAACCC others(9): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp2 HG03139.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0032a0001c0001t0033 | a0001c0001t0031g0145a0001c0001t0032g0187a0001c0001t0033g0176 | 3 | 314 | 0.0096 | -16 | c.*79 others(27): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1537 | chr3 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74960702 | ATATATAT others(9): Show |
A | upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0225 | 1 | 228 | 0.0044 | -16 | c.-42 others(27): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 4002 | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74999601 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01071.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011a0001c0001t0012others(8): Show | a0001c0001t0006g0085a0001c0001t0011g0001a0001c0001t0011g0078others(15): Show | 18 | 228 | 0.0790 | -16 | c.114 others(33): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96752550 | ATAACCTC others(9): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01081.hp1 others(24): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0001g0108a0001c0001t0001g0118a0001c0001t0004g0014others(21): Show | 27 | 358 | 0.0754 | -16 | c.152 others(35): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CASZ1_chr1_10631604_10801646 | 10698245 | TGAATATT others(9): Show |
T | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 236 | 0.0042 | -16 | c.-23 others(33): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10792326 | CGCCCCCC others(9): Show |
C | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0084 | 1 | 236 | 0.0042 | -16 | c.-23 others(35): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91612051 | TCTTTCTT others(9): Show |
T | intron_variant | MODIFIER | HG01175.hp1 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0216 | 2 | 271 | 0.0074 | -16 | c.240 others(35): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 20/26 | chr14 | TogoVar |