view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPZB_chr1_19333775_19490539 | 19422729 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG00735.hp1 others(68): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0031 others(68): Show |
71 | 119 | 0.5966 | 9 | c.4-2 others(22): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CARD19_chr9_93091217_93118283 | 93106414 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0104 a0001c0001t0002g0007 a0001c0001t0002g0040 others(22): Show |
40 | 91 | 0.4396 | 9 | c.8-1 others(22): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8851977 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01123.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0021a0001c0002t0019others(1): Show | a0001c0001t0001g0172 a0001c0001t0001g0232 a0001c0001t0001g0256 others(9): Show |
12 | 87 | 0.1379 | 9 | c.*31 others(20): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8857263 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01515.hp2 HG01517.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0013a0001c0002t0003 | a0001c0001t0003g0020 a0001c0001t0003g0322 a0001c0001t0003g0350 others(3): Show |
7 | 118 | 0.0593 | 9 | c.281 others(26): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8857498 | A | ACCATGTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(450): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(415): Show |
453 | 467 | 0.9700 | 9 | c.281 others(24): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8861989 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01243.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0037a0001c0002t0002others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0001g0050 others(23): Show |
28 | 127 | 0.2205 | 9 | c.-7- others(24): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8863286 | C | CATTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(138): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0126 a0001c0001t0002g0196 a0001c0001t0002g0197 others(128): Show |
141 | 467 | 0.3019 | 9 | c.-7- others(24): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CARM1_chr19_10866553_10928075 | 10871589 | A | AGCGGCGG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG03579.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0019 a0001c0001t0001g0199 a0001c0001t0001g0209 others(4): Show |
7 | 250 | 0.0280 | 9 | c.-72 others(16): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 63 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARM1_chr19_10866553_10928075 | 10871610 | G | GGCGGCGG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0127 |
3 | 352 | 0.0085 | 9 | c.-85 others(16): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 84 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25340777 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02615.hp1 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0005others(1): Show | a0001c0002t0011a0001c0006t0002a0002c0005t0003others(2): Show | a0001c0002t0011g0044 a0001c0006t0002g0030 a0002c0005t0003g0035 others(2): Show |
5 | 32 | 0.1563 | 9 | c.138 others(28): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25408465 | A | AAGATTAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(71): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(41): Show | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0050 others(71): Show |
74 | 184 | 0.4022 | 9 | c.139 others(28): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41537818 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG03239.hp2 NA18957.hp2 NA18973.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(5): Show |
8 | 97 | 0.0825 | 9 | c.215 others(28): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 22/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41710132 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | NA18984.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0100 |
2 | 159 | 0.0126 | 9 | c.429 others(28): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41869812 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0004g0046 others(3): Show |
6 | 67 | 0.0896 | 9 | c.60- others(26): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | |||||||
CASP8_chr2_201255536_201292709 | 201281933 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01261.hp1 HG01433.hp2 others(31): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0004g0002 a0001c0001t0004g0020 a0001c0001t0004g0031 others(16): Show |
34 | 342 | 0.0994 | 9 | c.803 others(26): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASQ1_chr1_160185575_160206886 | 160186086 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG01891.hp2 HG02615.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(11): Show |
18 | 112 | 0.1607 | 9 | c.-46 others(20): Show |
CASQ1 | ENSG00000143318.13 | transcript | ENST00000368078.8 | protein_coding | 4488 | chr1 | TogoVar | |||||||
CASQ1_chr1_160185575_160206886 | 160194127 | T | TACACACA others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01515.hp2 HG01517.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0054 a0001c0001t0002g0027 others(2): Show |
11 | 438 | 0.0251 | 9 | c.465 others(24): Show |
CASQ1 | ENSG00000143318.13 | transcript | ENST00000368078.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761497 | G | GAGAAGAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014 | a0001c0001t0008g0026 a0001c0001t0014g0002 |
3 | 49 | 0.0612 | 9 | c.234 others(26): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74995511 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 HG01192.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(9): Show | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0018 others(12): Show |
15 | 44 | 0.3409 | 9 | c.114 others(28): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10740960 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00741.hp1 others(14): Show |
a0001a0005a0014 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0001g0149 a0001c0001t0003g0030 a0001c0001t0006g0072 others(14): Show |
17 | 136 | 0.1250 | 9 | c.-77 others(28): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CATSPER1_chr11_66011752_66031479 | 66027488 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01099.hp2 others(20): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0005t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(14): Show |
23 | 109 | 0.2110 | 9 | c.-11 others(20): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 1010 | chr11 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5731560 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01168.hp1 HG01175.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0301 others(3): Show |
6 | 59 | 0.1017 | 9 | c.276 others(26): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5763847 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01517.hp1 others(8): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0004a0007c0012others(1): Show | a0001c0001t0001a0003c0004t0001a0007c0012t0001others(1): Show | a0001c0001t0001g0103 a0001c0001t0001g0164 a0001c0001t0001g0170 others(8): Show |
11 | 94 | 0.1170 | 9 | c.150 others(26): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244516191 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03471.hp1 |
a0001a0007 | a0001c0002a0007c0010 | a0001c0002t0001a0007c0010t0001 | a0001c0002t0001g0088 a0007c0010t0001g0137 a0007c0010t0001g0138 |
3 | 130 | 0.0231 | 9 | c.430 others(26): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244553598 | A | ATACACAC others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02257.hp1 others(14): Show |
a0001a0002a0004 | a0001c0003a0001c0020a0002c0021others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(3): Show | a0001c0003t0001g0031 a0001c0003t0001g0045 a0001c0003t0001g0087 others(14): Show |
17 | 196 | 0.0867 | 9 | c.102 others(26): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | chr1 | TogoVar | |||||||
CATSPERG_chr19_38330830_38375943 | 38357515 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03831.hp1 HG03942.hp1 others(3): Show |
a0001a0002 | a0001c0005a0002c0003 | a0001c0005t0001a0002c0003t0001 | a0001c0005t0001g0196 a0001c0005t0001g0199 a0002c0003t0001g0071 others(3): Show |
6 | 173 | 0.0347 | 9 | c.131 others(26): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42404615 | C | CGAGCCGA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01928.hp1 HG01928.hp2 HG02080.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0030 | a0001c0001t0005g0008 a0001c0001t0005g0024 a0001c0001t0005g0027 others(13): Show |
20 | 335 | 0.0597 | 9 | c.*63 others(16): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 2/2 | 71 | chr17 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33490088 | A | ACGGCGGC others(2): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG02897.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 a0001c0001t0003g0146 a0001c0001t0003g0147 |
3 | 294 | 0.0102 | 9 | c.-18 others(18): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 7 | chr20 | TogoVar | |||||||
CBFB_chr16_67024149_67106058 | 67058128 | G | GGTTGTTG others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 others(3): Show |
6 | 192 | 0.0313 | 9 | c.283 others(26): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67066393 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01192.hp1 HG02083.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0072 a0001c0001t0001g0144 a0001c0001t0001g0149 others(7): Show |
10 | 59 | 0.1695 | 9 | c.283 others(24): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44779553 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02698.hp2 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0001c0008others(6): Show | a0001c0001t0001a0001c0006t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0006t0001g0065 others(10): Show |
15 | 309 | 0.0485 | 9 | c.353 others(26): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLN2_chr18_72531681_72549342 | 72544973 | C | CTAATAAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(31): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0028others(4): Show | a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0004g0014 others(10): Show |
34 | 106 | 0.3208 | 9 | c.-12 others(20): Show |
CBLN2 | ENSG00000141668.10 | transcript | ENST00000269503.9 | protein_coding | 632 | chr18 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119206289 | C | CCGGCGGC others(2): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0077 a0001c0001t0002g0258 a0001c0001t0002g0284 |
3 | 271 | 0.0111 | 9 | c.-12 others(18): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 49 | chr11 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119206289 | C | CCGGTGGC others(2): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01255.hp2 HG01496.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009 | a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0161 others(16): Show |
19 | 287 | 0.0662 | 9 | c.-12 others(18): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 49 | chr11 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119260939 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00733.hp1 others(49): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0016a0001c0001t0020others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0138 a0001c0001t0001g0148 others(49): Show |
52 | 143 | 0.3636 | 9 | c.444 others(28): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119266018 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG00738.hp1 others(72): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(15): Show | a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0134 others(72): Show |
75 | 168 | 0.4464 | 9 | c.444 others(26): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119283625 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(13): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0016a0001c0001t0029others(4): Show | a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0198 others(13): Show |
16 | 47 | 0.3404 | 9 | c.143 others(28): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48080951 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03098.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0133 a0001c0001t0001g0262 a0001c0001t0004g0312 |
3 | 243 | 0.0123 | 9 | c.-37 others(26): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48100137 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02040.hp1 HG02257.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(12): Show |
17 | 112 | 0.1518 | 9 | c.-38 others(26): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48101948 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG02647.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0311 others(3): Show |
6 | 52 | 0.1154 | 9 | c.-71 others(18): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 471 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48105324 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00621.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0006 others(39): Show |
53 | 101 | 0.5248 | 9 | c.-41 others(20): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 3847 | chr17 | TogoVar | |||||||
CBX3_chr7_26196745_26218607 | 26208917 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00733.hp1 HG01346.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015 a0001c0001t0001g0078 a0001c0001t0001g0090 others(4): Show |
10 | 86 | 0.1163 | 9 | c.330 others(24): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CBY3_chr5_179673560_179686034 | 179677966 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02922.hp2 HG03098.hp2 others(4): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0003t0001g0009 others(1): Show |
7 | 313 | 0.0224 | 9 | c.*61 others(18): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 593 | chr5 | TogoVar | |||||||
CC2D2B_chr10_95902975_96038745 | 95947114 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01071.hp2 HG01433.hp2 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0001a0002c0002t0001a0006c0008t0001 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0037 others(3): Show |
6 | 232 | 0.0259 | 9 | c.802 others(26): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 9/34 | chr10 | TogoVar | |||||||
CCAR2_chr8_22599757_22625471 | 22625098 | T | TCCTACTA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00733.hp1 others(49): Show |
a0001a0002a0005others(1): Show | a0001c0003a0001c0004a0001c0008others(5): Show | a0001c0003t0005a0001c0003t0006a0001c0003t0022others(10): Show | a0001c0003t0005g0033 a0001c0003t0006g0032 a0001c0003t0006g0113 others(36): Show |
52 | 374 | 0.1390 | 9 | c.*54 others(20): Show |
CCAR2 | ENSG00000158941.17 | transcript | ENST00000308511.9 | protein_coding | 4628 | chr8 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59543847 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01928.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0073 others(6): Show |
9 | 219 | 0.0411 | 9 | c.213 others(28): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59625430 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02109.hp1 HG02257.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0102 a0001c0001t0001g0135 a0001c0001t0002g0078 others(20): Show |
23 | 148 | 0.1554 | 9 | c.212 others(28): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658321 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01175.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0056 | a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0001g0108 others(2): Show |
5 | 225 | 0.0222 | 9 | c.212 others(28): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59668418 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG02148.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0019 a0001c0001t0002g0230 a0001c0001t0006g0231 others(3): Show |
6 | 207 | 0.0290 | 9 | c.212 others(28): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59687758 | A | AGACCAGC others(2): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03225.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0139 a0001c0001t0002g0140 a0001c0001t0009g0141 |
3 | 240 | 0.0125 | 9 | c.212 others(26): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar |