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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN9_chr1_230742388_230806989 | 230800231 | GAAGAAAG others(13): Show |
G | intron_variant | MODIFIER | HG01934.hp1 NA18972.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0287a0001c0002t0001g0294 | 2 | 394 | 0.0051 | -20 | c.204 others(39): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230800290 | GAAAGAAA others(13): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG02723.hp1 HG03041.hp1 others(3): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0005a0002c0006others(2): Show | a0001c0002t0001a0001c0005t0001a0002c0006t0001others(2): Show | a0001c0002t0001g0308a0001c0005t0001g0050a0002c0006t0001g0273others(3): Show | 6 | 394 | 0.0152 | -20 | c.204 others(39): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPRIN1_chr11_34046731_34107610 | 34103733 | CACAAAAA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022a0001c0001t0003g0024a0001c0001t0003g0025others(3): Show | 6 | 246 | 0.0244 | -20 | c.*43 others(31): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 1124 | chr11 | TogoVar | ||||||
CAPRIN2_chr12_30704553_30759951 | 30734849 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0222 | 1 | 378 | 0.0027 | -20 | c.566 others(34): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 5/18 | chr12 | TogoVar | ||||||
CAPS2_chr12_75270979_75335324 | 75291593 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(62): Show | 80 | 370 | 0.2162 | -20 | c.112 others(37): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116859874 | TTTTCTTT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0232a0001c0001t0001g0234a0001c0001t0001g0258others(79): Show | 82 | 354 | 0.2316 | -20 | c.-27 others(31): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2712 | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01433.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033 | a0001c0001t0002g0272a0001c0001t0033g0349 | 2 | 354 | 0.0057 | -20 | c.40- others(35): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116890551 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG00733.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221a0001c0001t0001g0232 | 2 | 354 | 0.0057 | -20 | c.103 others(37): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116922704 | TGAATGAA others(13): Show |
T | downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0349 | 1 | 354 | 0.0028 | -20 | c.*48 others(31): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 656 | chr7 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19392179 | TCTCAAGG others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(196): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0015a0001c0001t0001g0018others(196): Show | 199 | 364 | 0.5467 | -20 | c.94- others(35): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19476168 | GTAGATAG others(13): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00642.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(6): Show | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0165others(30): Show | 33 | 364 | 0.0907 | -20 | c.3+9 others(33): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19485737 | GGGCGCGG others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 364 | 0.0028 | -20 | c.-31 others(29): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 199 | chr1 | TogoVar | ||||||
CARD10_chr22_37485362_37524415 | 37506150 | CCAGCCTT others(13): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01496.hp2 others(16): Show |
a0001a0002a0003 | a0001c0003a0001c0006a0001c0007others(7): Show | a0001c0003t0002a0001c0006t0001a0001c0007t0001others(8): Show | a0001c0003t0002g0066a0001c0006t0001g0016a0001c0007t0001g0071others(16): Show | 19 | 276 | 0.0688 | -20 | c.138 others(35): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 7/19 | chr22 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2920830 | ATCTATCT others(13): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02572.hp1 others(6): Show |
a0001a0016 | a0001c0001a0001c0011a0001c0016others(2): Show | a0001c0001t0001a0001c0011t0001a0001c0016t0002others(2): Show | a0001c0001t0001g0280a0001c0011t0001g0029a0001c0011t0001g0096others(6): Show | 9 | 322 | 0.0280 | -20 | c.227 others(39): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2933658 | ATCTTTCT others(13): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0015 | 1 | 322 | 0.0031 | -20 | c.151 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80171193 | CCCTCCCT others(13): Show |
C | intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0088 | 1 | 376 | 0.0027 | -20 | c.-69 others(39): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD14_chr17_80165030_80214331 | 80171197 | CCCTCCCT others(13): Show |
C | intron_variant | MODIFIER | HG03831.hp1 NA19010.hp1 |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0140a0006c0009t0001g0251 | 2 | 376 | 0.0053 | -20 | c.-69 others(39): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD14_chr17_80165030_80214331 | 80175952 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 376 | 0.0027 | -20 | c.-36 others(39): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD19_chr9_93091217_93118283 | 93095754 | GCGCCCGC others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(332): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(163): Show | 335 | 358 | 0.9358 | -20 | c.-59 others(29): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 462 | chr9 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202933924 | CTTTCTTT others(13): Show |
C | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0122 | 1 | 334 | 0.0030 | -20 | c.-43 others(37): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202969578 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02040.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0154a0001c0001t0003g0155a0001c0001t0004g0053others(6): Show | 9 | 334 | 0.0270 | -20 | c.954 others(35): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARHSP1_chr16_8847947_8874006 | 8857261 | CTGTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03453.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0015a0001c0003t0016 | a0001c0003t0015g0348a0001c0003t0015g0415a0001c0003t0016g0074others(1): Show | 4 | 470 | 0.0085 | -20 | c.281 others(37): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25281124 | GTGTGCGC others(13): Show |
G | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0003 | 1 | 186 | 0.0054 | -20 | c.40+ others(35): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25392053 | CATGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01109.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0068a0001c0001t0001g0076a0001c0001t0001g0109others(16): Show | 19 | 186 | 0.1022 | -20 | c.139 others(39): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25392054 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0020a0001c0001t0001g0080a0001c0001t0001g0102others(21): Show | 24 | 186 | 0.1290 | -20 | c.139 others(39): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25450975 | TCCTCTCC others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG02083.hp2 others(1): Show |
a0001 | a0001c0003a0001c0015a0001c0032 | a0001c0003t0002a0001c0015t0002a0001c0015t0004others(1): Show | a0001c0003t0002g0089a0001c0015t0002g0032a0001c0015t0004g0098others(1): Show | 4 | 186 | 0.0215 | -20 | c.614 others(35): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25459210 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG00597.hp2 | a0003 | a0003c0010 | a0003c0010t0003 | a0003c0010t0003g0132 | 1 | 186 | 0.0054 | -20 | c.615 others(37): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25459250 | CTTTCTTT others(13): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0176 | 1 | 186 | 0.0054 | -20 | c.615 others(37): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25490698 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG03209.hp2 HG03834.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0021a0001c0015t0002 | a0001c0001t0021g0163a0001c0015t0002g0032 | 2 | 186 | 0.0108 | -20 | c.106 others(37): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25490734 | TAAATAAA others(13): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0005 | a0002c0005t0016 | a0002c0005t0016g0171 | 1 | 186 | 0.0054 | -20 | c.106 others(37): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARNMT1_chr9_74975790_75033293 | 75021372 | TAGTATAT others(13): Show |
T | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 366 | 0.0027 | -20 | c.231 others(37): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
CARS1_chr11_2995929_3062423 | 3032044 | CTCCCTCC others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG01175.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0027others(21): Show | 25 | 321 | 0.0779 | -20 | c.802 others(37): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
CARS1_chr11_2995929_3062423 | 3032048 | CTCCCTCC others(13): Show |
C | intron_variant | MODIFIER | HG03654.hp2 HG03704.hp1 NA18942.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0055others(2): Show | 8 | 321 | 0.0249 | -20 | c.802 others(37): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
CARS1_chr11_2995929_3062423 | 3032052 | CTCCCTCC others(13): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02809.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0204a0001c0005t0001g0244 | 2 | 321 | 0.0062 | -20 | c.802 others(37): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
CARS1_chr11_2995929_3062423 | 3032060 | CTCCTTCC others(13): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02723.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0019a0001c0001t0001g0253others(1): Show | 6 | 321 | 0.0187 | -20 | c.802 others(37): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110654932 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0265a0001c0002t0003g0268a0001c0002t0003g0269others(1): Show | 4 | 372 | 0.0108 | -20 | c.988 others(37): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 9/14 | chr13 | TogoVar | ||||||
CASC3_chr17_40135537_40177171 | 40140373 | AACACACA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 266 | 0.0038 | -20 | c.-17 others(29): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 163 | chr17 | TogoVar | ||||||
CASKIN1_chr16_2172180_2201605 | 2178786 | ACGCCCAT others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00639.hp1 others(47): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0010a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0027a0001c0001t0001g0070a0001c0001t0001g0097others(34): Show | 50 | 350 | 0.1429 | -20 | c.419 others(36): Show |
CASKIN1 | ENSG00000167971.16 | transcript | ENST00000343516.8 | protein_coding | 19/19 | chr16 | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41510388 | CATATATA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG00738.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0041a0001c0001t0001g0060a0001c0001t0001g0071others(19): Show | 22 | 164 | 0.1342 | -20 | c.*10 others(33): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 4545 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41818145 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 164 | 0.0061 | -20 | c.173 others(39): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41829696 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG01934.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0089a0001c0001t0001g0123a0001c0001t0001g0134others(3): Show | 6 | 164 | 0.0366 | -20 | c.172 others(39): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | ||||||
CASP5_chr11_104989243_105028168 | 105009751 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02895.hp2 others(4): Show |
a0003a0004a0007 | a0003c0003a0003c0005a0004c0004others(1): Show | a0003c0003t0001a0003c0005t0001a0004c0004t0001others(1): Show | a0003c0003t0001g0014a0003c0003t0001g0050a0003c0005t0001g0049others(2): Show | 7 | 396 | 0.0177 | -20 | c.8-7 others(31): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706129 | TTTTATAT others(13): Show |
T | upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 416 | 0.0024 | -20 | c.-27 others(31): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2685 | chr4 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201292151 | AATCAGAT others(13): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 386 | 0.0026 | -20 | c.*55 others(31): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 4443 | chr2 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115766865 | TGATAGAT others(13): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01255.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0050a0001c0001t0002g0068a0001c0001t0002g0069others(55): Show | 58 | 364 | 0.1593 | -20 | c.234 others(37): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115773214 | CTGTGTGT others(13): Show |
C | upstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 | 1 | 364 | 0.0028 | -20 | c.-46 others(31): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 4501 | chr1 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96665741 | CATACACA others(13): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01192.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0132a0001c0001t0004g0133a0001c0001t0004g0134others(3): Show | 7 | 358 | 0.0196 | -20 | c.75+ others(35): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96752550 | ATAACCTC others(13): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01346.hp1 HG01891.hp2 others(22): Show |
a0002a0004a0013 | a0002c0003a0002c0004a0002c0006others(2): Show | a0002c0003t0001a0002c0004t0001a0002c0004t0005others(4): Show | a0002c0003t0001g0240a0002c0003t0001g0334a0002c0003t0001g0335others(22): Show | 25 | 358 | 0.0698 | -20 | c.152 others(39): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CATSPER3_chr5_134962907_135016696 | 134980388 | CCCTCCTT others(13): Show |
C | intron_variant | MODIFIER | HG02965.hp1 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0121a0001c0003t0001g0122 | 2 | 380 | 0.0053 | -20 | c.252 others(39): Show |
CATSPER3 | ENSG00000152705.8 | transcript | ENST00000282611.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CATSPERB_chr14_91575698_91737086 | 91616713 | TTATTATT others(13): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0211a0001c0005t0002g0213 | 2 | 271 | 0.0074 | -20 | c.240 others(37): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 20/26 | chr14 | TogoVar |