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 | 19470219 | CAAAAAAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01167.hp1 others(18): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 others(18): Show |
21 | 362 | 0.0580 | -7 | c.3+1 others(22): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CARD10_chr22_37485362_37524415 | 37512466 | CACACACA | C | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp2 others(49): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0006others(10): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(11): Show | a0001c0002t0002g0227 a0001c0003t0001g0016 a0001c0003t0001g0240 others(37): Show |
52 | 239 | 0.2176 | -7 | c.700 others(24): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 3/19 | chr22 | TogoVar | |||||||
CARD10_chr22_37485362_37524415 | 37520635 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01516.hp1 HG02145.hp1 HG02258.hp1 others(9): Show |
a0003a0006 | a0003c0008a0003c0009a0003c0014others(3): Show | a0003c0008t0001a0003c0009t0001a0003c0014t0001others(3): Show | a0003c0008t0001g0045 a0003c0008t0001g0056 a0003c0008t0001g0060 others(9): Show |
12 | 168 | 0.0714 | -7 | c.-14 others(18): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 1221 | chr22 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2908820 | TTTTTTTG | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(124): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(29): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(32): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0025 others(124): Show |
127 | 320 | 0.3969 | -7 | c.326 others(26): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 24/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2984526 | TCCCTCCC | T | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00735.hp2 others(73): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0015others(28): Show | a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0103 others(73): Show |
76 | 320 | 0.2375 | -7 | c.-12 others(28): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 3022936 | ATTTATAT | A | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG01934.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0286 a0001c0002t0001g0214 others(3): Show |
6 | 301 | 0.0199 | -7 | c.-12 others(28): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 3040910 | CTTTTTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG02738.hp2 HG03491.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0103 a0001c0001t0001g0286 a0001c0002t0001g0109 others(3): Show |
6 | 56 | 0.1071 | -7 | c.-12 others(26): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD14_chr17_80165030_80214331 | 80175952 | GTTTTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00735.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0012others(9): Show | a0001c0001t0002a0001c0007t0002a0001c0012t0001others(9): Show | a0001c0001t0002g0023 a0001c0007t0002g0301 a0001c0012t0001g0033 others(12): Show |
15 | 44 | 0.3409 | -7 | c.-36 others(26): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD6_chr5_40836367_40860354 | 40837366 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01433.hp2 HG01928.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0007 a0001c0001t0001g0046 a0001c0001t0001g0113 others(10): Show |
20 | 100 | 0.2000 | -7 | c.-40 others(18): Show |
CARD6 | ENSG00000132357.14 | transcript | ENST00000254691.10 | protein_coding | 4000 | chr5 | TogoVar | |||||||
CARD8_chr19_48203086_48260912 | 48214769 | CTTTTTTT | C | intron_variant | MODIFIER | HG03225.hp1 HG03927.hp2 NA18947.hp1 others(5): Show |
a0001a0002a0003 | a0001c0003a0001c0004a0002c0012others(1): Show | a0001c0003t0007a0001c0003t0015a0001c0004t0023others(2): Show | a0001c0003t0007g0140 a0001c0003t0015g0058 a0001c0004t0023g0297 others(5): Show |
8 | 10 | 0.8000 | -7 | c.134 others(24): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 13/13 | chr19 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8851977 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01169.hp2 HG02055.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0002a0001c0004t0002a0001c0006t0009 | a0001c0002t0002g0031 a0001c0002t0002g0173 a0001c0004t0002g0116 others(3): Show |
6 | 81 | 0.0741 | -7 | c.*31 others(18): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | |||||||
CARHSP1_chr16_8847947_8874006 | 8861989 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(70): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(11): Show | a0001c0001t0001g0286 a0001c0001t0003g0013 a0001c0001t0003g0020 others(68): Show |
73 | 172 | 0.4244 | -7 | c.-7- others(22): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25309766 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(69): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(45): Show | a0001c0001t0001g0007 a0001c0001t0001g0050 a0001c0001t0001g0071 others(69): Show |
72 | 127 | 0.5669 | -7 | c.138 others(26): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25330888 | GTTTTTTT | G | intron_variant | MODIFIER | HG01175.hp1 HG01361.hp1 HG01884.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0003others(6): Show | a0001c0001t0001g0042 a0001c0001t0008g0133 a0001c0002t0003g0108 others(7): Show |
10 | 40 | 0.2500 | -7 | c.138 others(26): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25390309 | TATATATA | T | intron_variant | MODIFIER | HG02738.hp2 HG03654.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0008a0001c0004t0004 | a0001c0003t0008g0022 a0001c0004t0004g0117 |
2 | 176 | 0.0114 | -7 | c.139 others(26): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25390314 | ATATATAT | A | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp1 HG03195.hp1 others(2): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0012a0001c0002t0001a0001c0002t0012others(2): Show | a0001c0001t0012g0179 a0001c0002t0001g0049 a0001c0002t0012g0174 others(2): Show |
5 | 162 | 0.0309 | -7 | c.139 others(26): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25516289 | TCAAAACC | T | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01109.hp2 others(35): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0008a0001c0001t0012a0001c0001t0015others(22): Show | a0001c0001t0008g0014 a0001c0001t0012g0179 a0001c0001t0015g0177 others(35): Show |
38 | 184 | 0.2065 | -7 | c.180 others(24): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARNMT1_chr9_74975790_75033293 | 75010119 | CTTTTTTT | C | intron_variant | MODIFIER | HG01981.hp2 HG02486.hp1 HG02818.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(5): Show |
8 | 226 | 0.0354 | -7 | c.590 others(24): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
CARS1_chr11_2995929_3062423 | 2996702 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(108): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(95): Show |
111 | 169 | 0.6568 | -7 | c.*44 others(18): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 4226 | chr11 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110680147 | AGGGGGGG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(24): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(191): Show |
215 | 216 | 0.9954 | -7 | c.655 others(24): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
CASC3_chr17_40135537_40177171 | 40140371 | CCAACACA | C | upstream_gene_variant | MODIFIER | HG02683.hp2 NA18942.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0128 a0001c0001t0001g0143 |
3 | 260 | 0.0115 | -7 | c.-17 others(16): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 165 | chr17 | TogoVar | |||||||
CASP14_chr19_15044480_15063293 | 15044858 | CTTTCTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(131): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(43): Show |
134 | 330 | 0.4061 | -7 | c.-48 others(18): Show |
CASP14 | ENSG00000105141.6 | transcript | ENST00000427043.4 | protein_coding | 4621 | chr19 | TogoVar | |||||||
CASP4_chr11_104937866_104973574 | 104958960 | CAAAAAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG01175.hp1 HG02559.hp1 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0003a0002c0004t0005 | a0002c0004t0003g0032 a0002c0004t0003g0054 a0002c0004t0003g0058 others(3): Show |
7 | 93 | 0.0753 | -7 | c.8-3 others(20): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 1/8 | chr11 | TogoVar | |||||||
CASQ1_chr1_160185575_160206886 | 160201078 | CTAACCCA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(427): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0002c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(132): Show |
430 | 438 | 0.9817 | -7 | c.106 others(24): Show |
CASQ1 | ENSG00000143318.13 | transcript | ENST00000368078.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CASS4_chr20_56407260_56465382 | 56445442 | CTGCCTAT | C | intron_variant | MODIFIER | HG00597.hp1 NA18612.hp2 NA18942.hp1 others(3): Show |
a0004 | a0004c0010a0004c0011 | a0004c0010t0001a0004c0011t0002 | a0004c0010t0001g0037 a0004c0010t0001g0076 a0004c0010t0001g0239 others(3): Show |
6 | 374 | 0.0160 | -7 | c.460 others(22): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 75023464 | CTTTTTGT | C | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00639.hp1 others(116): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(115): Show |
119 | 226 | 0.5265 | -7 | c.830 others(22): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 75028991 | CGGAAGCA | C | 3_prime_UTR_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01168.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0020a0001c0001t0031others(14): Show | a0001c0001t0003g0056 a0001c0001t0003g0163 a0001c0001t0003g0165 others(23): Show |
26 | 226 | 0.1150 | -7 | c.*42 others(18): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 9/9 | 4294 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASZ1_chr1_10631604_10801646 | 10659327 | TGTCATGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(68): Show |
a0001a0002a0003others(7): Show | a0001c0003a0001c0004a0001c0009others(16): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(37): Show | a0001c0003t0001g0205 a0001c0003t0002g0046 a0001c0003t0002g0050 others(68): Show |
71 | 234 | 0.3034 | -7 | c.134 others(24): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 6/20 | chr1 | TogoVar | |||||||
CATSPER1_chr11_66011752_66031479 | 66012667 | CCCCCCCA | C | downstream_gene_variant | MODIFIER | HG00673.hp1 HG02080.hp1 HG02080.hp2 others(12): Show |
a0003a0004a0019 | a0003c0004a0004c0006a0019c0026 | a0003c0004t0001a0004c0006t0003a0019c0026t0001 | a0003c0004t0001g0014 a0003c0004t0001g0024 a0004c0006t0003g0012 others(6): Show |
15 | 406 | 0.0369 | -7 | c.*42 others(18): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 4084 | chr11 | TogoVar | |||||||
CATSPER4_chr1_26185602_26207964 | 26189038 | ACCAGACT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(374): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0009others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(177): Show |
377 | 396 | 0.9520 | -7 | c.-15 others(18): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 1563 | chr1 | TogoVar | |||||||
CATSPER4_chr1_26185602_26207964 | 26200716 | GGGCCTTA | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00733.hp1 others(56): Show |
a0001a0002a0004others(1): Show | a0001c0015a0002c0002a0002c0014others(2): Show | a0001c0015t0002a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0015t0002g0044 a0002c0002t0001g0003 a0002c0002t0001g0012 others(30): Show |
59 | 396 | 0.1490 | -7 | c.988 others(22): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPER4_chr1_26185602_26207964 | 26207778 | AAAGAAAG | A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG02257.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0011t0001 | a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0066 others(2): Show |
6 | 357 | 0.0168 | -7 | c.*52 others(18): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 4815 | chr1 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91587477 | CTTTTTTT | C | intron_variant | MODIFIER | HG01071.hp2 HG01168.hp2 HG02895.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0001others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0068 others(8): Show |
11 | 21 | 0.5238 | -7 | c.305 others(24): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 25/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91714286 | AAAAAAAG | A | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01167.hp2 others(66): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0156 a0001c0001t0001g0187 a0001c0001t0001g0196 others(66): Show |
69 | 270 | 0.2556 | -7 | c.370 others(24): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 5/26 | chr14 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5779062 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01433.hp1 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001a0013a0014others(1): Show | a0001c0001a0013c0013a0014c0017others(1): Show | a0001c0001t0005a0013c0013t0001a0014c0017t0002others(1): Show | a0001c0001t0005g0080 a0013c0013t0001g0009 a0014c0017t0002g0193 others(3): Show |
6 | 64 | 0.0938 | -7 | c.*38 others(16): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 329 | chr19 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244489450 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0040 others(46): Show |
49 | 54 | 0.9074 | -7 | c.327 others(22): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244621082 | TAAATATA | T | intron_variant | MODIFIER | HG00741.hp1 NA18612.hp2 NA18945.hp1 |
a0001a0008 | a0001c0002a0001c0018a0008c0024 | a0001c0002t0003a0001c0018t0003a0008c0024t0001 | a0001c0002t0003g0143 a0001c0018t0003g0142 a0008c0024t0001g0081 |
3 | 201 | 0.0149 | -7 | c.264 others(26): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | chr1 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116523181 | AAAGAAAG | A | upstream_gene_variant | MODIFIER | HG02809.hp1 HG03041.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0082 a0001c0001t0004g0242 a0001c0002t0001g0035 others(1): Show |
4 | 336 | 0.0119 | -7 | c.-18 others(18): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1854 | chr7 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116555519 | AGAGAGAG | A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG02027.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0006 a0001c0001t0002g0193 a0001c0001t0003g0038 others(3): Show |
6 | 297 | 0.0202 | -7 | c.196 others(24): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116555521 | AGAGAGAG | A | intron_variant | MODIFIER | HG01243.hp1 HG02040.hp2 HG02155.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0002g0006 others(4): Show |
7 | 323 | 0.0217 | -7 | c.196 others(24): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42413566 | GAAAAAAA | G | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00741.hp2 others(31): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0028 others(30): Show |
34 | 102 | 0.3333 | -7 | c.472 others(24): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33495386 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0039 | a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0131 others(5): Show |
8 | 258 | 0.0310 | -7 | c.34+ others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33515350 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG01070.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0036 | a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 others(26): Show |
29 | 45 | 0.6444 | -7 | c.34+ others(24): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33634670 | CAAAAAAA | C | intron_variant | MODIFIER | HG02145.hp2 HG02148.hp2 HG02257.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0265 a0001c0001t0004g0291 a0001c0001t0004g0292 others(5): Show |
8 | 144 | 0.0556 | -7 | c.122 others(26): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88920443 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00735.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0016others(2): Show | a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 others(21): Show |
24 | 255 | 0.0941 | -7 | c.152 others(26): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFB_chr16_67024149_67106058 | 67092698 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02451.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0158 a0001c0001t0002g0006 a0001c0001t0004g0198 others(11): Show |
14 | 24 | 0.5833 | -7 | c.496 others(24): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44778333 | TGCTCCCA | T | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp2 HG02818.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0001a0005c0005t0001 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0002c0002t0001g0033 others(2): Show |
5 | 342 | 0.0146 | -7 | c.353 others(20): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLL2_chrX_22267913_22279461 | 22271960 | GTTTTTTT | G | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02970.hp1 HG03195.hp2 others(4): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0003t0001g0000 others(1): Show |
7 | 11 | 0.6364 | -7 | c.-10 others(18): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | |||||||
CBLN4_chr20_55992357_56010519 | 56006967 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01109.hp2 HG01884.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0067 others(11): Show |
31 | 142 | 0.2183 | -7 | c.-28 others(18): Show |
CBLN4 | ENSG00000054803.4 | transcript | ENST00000064571.3 | protein_coding | 1449 | chr20 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119283625 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01069.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0233 others(11): Show |
14 | 45 | 0.3111 | -7 | c.143 others(26): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |