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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARD18_chr11_105132714_105144769 | 105144372 | GATATATA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02486.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003 | 11 | 432 | 0.0255 | -8 | c.-46 others(19): Show |
CARD18 | ENSG00000255501.3 | transcript | ENST00000530950.2 | protein_coding | 4604 | chr11 | TogoVar | ||||||
CARD19_chr9_93091217_93118283 | 93105189 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0022 | 3 | 358 | 0.0084 | -8 | c.8-2 others(21): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CARD19_chr9_93091217_93118283 | 93109393 | AGGCCCAG others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017a0001c0001t0002g0108a0001c0001t0002g0109others(1): Show | 7 | 358 | 0.0196 | -8 | c.151 others(25): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CARD19_chr9_93091217_93118283 | 93113511 | CCACACAC others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01074.hp2 others(34): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(24): Show | 37 | 358 | 0.1034 | -8 | c.*40 others(17): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 229 | chr9 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48214769 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG00735.hp1 others(23): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0006others(1): Show | a0001c0003t0005a0001c0003t0006a0001c0003t0016others(9): Show | a0001c0003t0005g0025a0001c0003t0005g0046a0001c0003t0005g0048others(23): Show | 26 | 362 | 0.0718 | -8 | c.134 others(25): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 13/13 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48247771 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(82): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0011a0001c0002t0017a0001c0002t0030others(28): Show | a0001c0002t0011g0280a0001c0002t0011g0284a0001c0002t0011g0285others(74): Show | 85 | 362 | 0.2348 | -8 | c.-44 others(25): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 3/13 | chr19 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202916162 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02135.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0143a0001c0001t0005g0144a0001c0001t0006g0244 | 3 | 334 | 0.0090 | -8 | c.-32 others(27): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202919910 | AAAAGGGT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0024a0001c0001t0026others(12): Show | a0001c0001t0002g0005a0001c0001t0002g0082a0001c0001t0002g0085others(33): Show | 37 | 334 | 0.1108 | -8 | c.-16 others(27): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202941714 | GTTAATTT others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00738.hp2 others(11): Show |
a0003 | a0003c0003a0003c0007a0003c0009others(1): Show | a0003c0003t0016a0003c0003t0047a0003c0003t0048others(7): Show | a0003c0003t0016g0002a0003c0003t0016g0013a0003c0003t0016g0014others(10): Show | 14 | 334 | 0.0419 | -8 | c.-43 others(23): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202960704 | ACCTTCCC others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00738.hp2 others(13): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0007others(2): Show | a0001c0001t0049a0001c0001t0050a0003c0003t0016others(9): Show | a0001c0001t0049g0282a0001c0001t0050g0281a0003c0003t0016g0002others(12): Show | 16 | 334 | 0.0479 | -8 | c.643 others(23): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202980616 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG03516.hp2 NA18939.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0009a0002c0002t0015 | a0001c0001t0002g0133a0001c0001t0009g0212a0002c0002t0015g0323 | 3 | 334 | 0.0090 | -8 | c.155 others(25): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202986867 | CGTATATA others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01952.hp2 HG01981.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0157a0001c0001t0009g0169a0001c0001t0009g0179others(6): Show | 9 | 334 | 0.0270 | -8 | c.*32 others(19): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3244 | chr2 | TogoVar | |||||
CARHSP1_chr16_8847947_8874006 | 8855665 | AAGCCAGA others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01257.hp1 others(27): Show |
a0001a0003 | a0001c0002a0003c0011 | a0001c0002t0004a0001c0002t0007a0001c0002t0008others(1): Show | a0001c0002t0004g0005a0001c0002t0004g0006a0001c0002t0004g0017others(20): Show | 30 | 470 | 0.0638 | -8 | c.282 others(23): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8857263 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00609.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0036others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0047a0001c0001t0001g0051others(40): Show | 45 | 470 | 0.0957 | -8 | c.281 others(25): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8861989 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01255.hp1 HG01257.hp1 others(51): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(11): Show | a0001c0001t0001g0396a0001c0001t0003g0045a0001c0001t0003g0060others(44): Show | 54 | 470 | 0.1149 | -8 | c.-7- others(23): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25274451 | TTCTCTCT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01361.hp2 HG01884.hp2 |
a0001a0002 | a0001c0009a0002c0013 | a0001c0009t0009a0002c0013t0010 | a0001c0009t0009g0046a0002c0013t0010g0047 | 2 | 186 | 0.0108 | -8 | c.-53 others(19): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 4922 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25281136 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02717.hp2 HG02895.hp2 others(2): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0009a0002c0005others(2): Show | a0001c0002t0011a0001c0009t0011a0002c0005t0003others(2): Show | a0001c0002t0011g0029a0001c0009t0011g0031a0002c0005t0003g0028others(2): Show | 5 | 186 | 0.0269 | -8 | c.40+ others(23): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25340777 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG02109.hp1 others(4): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0021a0001c0003t0023a0001c0009t0009others(4): Show | a0001c0001t0021g0163a0001c0003t0023g0161a0001c0009t0009g0046others(4): Show | 7 | 186 | 0.0376 | -8 | c.138 others(27): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25390293 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01081.hp1 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0008a0001c0037others(5): Show | a0001c0002t0003a0001c0002t0010a0001c0008t0001others(10): Show | a0001c0002t0003g0060a0001c0002t0010g0170a0001c0008t0001g0066others(13): Show | 16 | 186 | 0.0860 | -8 | c.139 others(27): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25392054 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02895.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0021a0001c0003t0002others(6): Show | a0001c0001t0001g0012a0001c0001t0021g0163a0001c0003t0002g0114others(8): Show | 11 | 186 | 0.0591 | -8 | c.139 others(27): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25434699 | AATTTTTG others(1): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02922.hp1 HG02970.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0030 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(1): Show | a0001c0001t0001g0012a0001c0001t0008g0133a0001c0001t0012g0179others(1): Show | 4 | 186 | 0.0215 | -8 | c.250 others(23): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25450724 | CTTCCTTC others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 NA19003.hp1 |
a0003 | a0003c0017 | a0003c0017t0006a0003c0017t0007 | a0003c0017t0006g0103a0003c0017t0007g0153 | 2 | 186 | 0.0108 | -8 | c.614 others(21): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25459210 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01243.hp2 HG03239.hp1 others(2): Show |
a0001a0008 | a0001c0001a0001c0004a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0009others(2): Show | a0001c0001t0001g0020a0001c0001t0003g0064a0001c0004t0009g0182others(2): Show | 5 | 186 | 0.0269 | -8 | c.615 others(25): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25490698 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01109.hp1 others(18): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0002t0003a0001c0002t0005others(8): Show | a0001c0001t0003g0054a0001c0002t0003g0017a0001c0002t0005g0157others(18): Show | 21 | 186 | 0.1129 | -8 | c.106 others(25): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25490746 | TAAATAAA others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00738.hp1 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0001g0012a0001c0001t0001g0050a0001c0001t0001g0065others(38): Show | 41 | 186 | 0.2204 | -8 | c.106 others(25): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25526150 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(66): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(41): Show | a0001c0001t0001g0051a0001c0001t0003g0054a0001c0001t0003g0064others(66): Show | 69 | 186 | 0.3710 | -8 | c.196 others(27): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25544606 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG03654.hp2 NA18522.hp1 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0006a0001c0006t0002 | a0001c0004t0006g0027a0001c0006t0002g0131 | 2 | 186 | 0.0108 | -8 | c.232 others(27): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25555382 | TATTCATT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(71): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0019others(43): Show | a0001c0001t0001g0012a0001c0001t0001g0020a0001c0001t0007g0143others(71): Show | 74 | 186 | 0.3979 | -8 | c.259 others(27): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25581211 | CTGTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG02145.hp1 HG03130.hp2 others(1): Show |
a0001a0003 | a0001c0004a0001c0008a0003c0010 | a0001c0004t0012a0001c0004t0018a0001c0008t0001others(1): Show | a0001c0004t0012g0177a0001c0004t0018g0093a0001c0008t0001g0003others(1): Show | 4 | 186 | 0.0215 | -8 | c.281 others(22): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARNMT1_chr9_74975790_75033293 | 75005827 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01243.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0070a0001c0001t0001g0121a0001c0001t0001g0130others(21): Show | 25 | 366 | 0.0683 | -8 | c.591 others(25): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
CARS1_chr11_2995929_3062423 | 3031996 | TTCCCTCC others(1): Show |
T | intron_variant | MODIFIER | HG02083.hp2 NA18987.hp2 NA18994.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0267a0001c0001t0001g0281a0003c0006t0001g0270 | 3 | 321 | 0.0094 | -8 | c.802 others(25): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
CARS1_chr11_2995929_3062423 | 3032060 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02145.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0091a0001c0001t0001g0233others(1): Show | 4 | 321 | 0.0125 | -8 | c.802 others(25): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110679569 | GAGAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02818.hp2 |
a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0280a0001c0009t0002g0281a0001c0009t0002g0282 | 3 | 372 | 0.0081 | -8 | c.656 others(25): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110679593 | AAGAAAGA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(20): Show |
a0001a0003a0012 | a0001c0003a0003c0006a0012c0023 | a0001c0003t0001a0003c0006t0002a0012c0023t0002 | a0001c0003t0001g0325a0001c0003t0001g0343a0003c0006t0002g0023others(19): Show | 23 | 372 | 0.0618 | -8 | c.656 others(25): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110679597 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02647.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0018a0001c0003t0001g0234a0001c0003t0001g0247others(3): Show | 7 | 372 | 0.0188 | -8 | c.656 others(25): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110680147 | AGGGGGGG others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00738.hp2 others(45): Show |
a0001a0002 | a0001c0003a0001c0009a0002c0004others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0009t0002others(4): Show | a0001c0003t0001g0247a0001c0003t0001g0249a0001c0003t0001g0250others(44): Show | 48 | 372 | 0.1290 | -8 | c.655 others(25): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40140345 | CACACCCC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01192.hp1 HG02148.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0100a0001c0001t0001g0102a0001c0001t0001g0103others(4): Show | 7 | 266 | 0.0263 | -8 | c.-20 others(17): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 191 | chr17 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40140373 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01361.hp1 HG01515.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0011others(12): Show | 16 | 266 | 0.0602 | -8 | c.-17 others(17): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 163 | chr17 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40150415 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02559.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0001g0219 | 3 | 266 | 0.0113 | -8 | c.297 others(25): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CASK_chrX_41509934_41928554 | 41510388 | CATATATA others(1): Show |
C | downstream_gene_variant | MODIFIER | NA18747.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0092a0001c0001t0004g0073 | 2 | 164 | 0.0122 | -8 | c.*10 others(21): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 4545 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41512024 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004a0001c0001t0007g0005a0001c0001t0007g0006 | 3 | 164 | 0.0183 | -8 | c.*83 others(19): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2909 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41534392 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0037a0001c0001t0006g0038a0001c0001t0006g0039others(1): Show | 4 | 164 | 0.0244 | -8 | c.231 others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 24/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41606242 | TTTCATTC others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0006a0001c0001t0007a0001c0001t0025others(3): Show | a0001c0001t0006g0037a0001c0001t0006g0038a0001c0001t0006g0039others(6): Show | 9 | 164 | 0.0549 | -8 | c.115 others(27): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 12/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41622880 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 164 | 0.0061 | -8 | c.101 others(25): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 10/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41710081 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 164 | 0.0061 | -8 | c.429 others(27): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41770257 | CATCTATC others(1): Show |
C | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0132 | 1 | 164 | 0.0061 | -8 | c.278 others(27): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 3/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41770309 | TACCTATC others(1): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02896.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0026 | a0001c0001t0001g0136a0001c0001t0004g0133a0001c0001t0026g0008 | 3 | 164 | 0.0183 | -8 | c.278 others(27): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 3/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41770313 | TATCCATC others(1): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0162a0001c0001t0001g0163 | 3 | 164 | 0.0183 | -8 | c.278 others(27): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 3/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41818145 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01071.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0006a0001c0001t0025others(1): Show | a0001c0001t0002g0029a0001c0001t0002g0033a0001c0001t0002g0034others(7): Show | 10 | 164 | 0.0610 | -8 | c.173 others(27): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41822557 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0008 | 1 | 164 | 0.0061 | -8 | c.172 others(27): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar |