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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPZB_chr1_19333775_19490539 | 19441059 | CAAAACAA | C | intron_variant | MODIFIER | HG02257.hp2 NA18998.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0095a0001c0001t0003g0228a0001c0002t0003g0225 | 3 | 364 | 0.0082 | -7 | c.4-2 others(22): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19450168 | AAGAAAAG | A | intron_variant | MODIFIER | HG02040.hp2 HG02074.hp1 HG02155.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0103a0001c0002t0001g0098a0001c0002t0003g0143others(3): Show | 6 | 364 | 0.0165 | -7 | c.4-3 others(22): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19470219 | CAAAAAAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01167.hp1 others(18): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0031others(18): Show | 21 | 364 | 0.0577 | -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 | a0001c0002t0002g0216a0001c0003t0001g0234a0001c0003t0001g0243others(40): Show | 52 | 276 | 0.1884 | -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 |
a0003a0008 | a0003c0008a0003c0009a0003c0014others(3): Show | a0003c0008t0001a0003c0009t0001a0003c0014t0001others(3): Show | a0003c0008t0001g0045a0003c0008t0001g0052a0003c0008t0001g0055others(9): Show | 12 | 276 | 0.0435 | -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 |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(29): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(32): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0025others(124): Show | 127 | 322 | 0.3944 | -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 |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0015others(28): Show | a0001c0001t0001g0026a0001c0001t0001g0042a0001c0001t0001g0103others(73): Show | 76 | 322 | 0.2360 | -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 | a0001c0001t0001g0008a0001c0001t0001g0286a0001c0002t0001g0207others(3): Show | 6 | 322 | 0.0186 | -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 | a0001c0001t0001g0103a0001c0001t0001g0286a0001c0002t0001g0109others(3): Show | 6 | 322 | 0.0186 | -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 | a0001c0001t0002g0019a0001c0007t0002g0337a0001c0012t0001g0029others(12): Show | 15 | 376 | 0.0399 | -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 | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0054others(12): Show | 20 | 440 | 0.0455 | -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 | a0001c0003t0006a0001c0003t0015a0001c0004t0024others(2): Show | a0001c0003t0006g0039a0001c0003t0015g0087a0001c0004t0024g0327others(5): Show | 8 | 362 | 0.0221 | -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 | a0001c0002t0002g0030a0001c0002t0002g0177a0001c0004t0002g0115others(3): Show | 6 | 470 | 0.0128 | -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 | a0001c0001t0001g0290a0001c0001t0003g0012a0001c0001t0003g0019others(68): Show | 73 | 470 | 0.1553 | -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 | a0001c0001t0001g0012a0001c0001t0001g0056a0001c0001t0001g0065others(69): Show | 72 | 186 | 0.3871 | -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 | a0001c0001t0001g0020a0001c0001t0008g0133a0001c0002t0003g0060others(7): Show | 10 | 186 | 0.0538 | -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 | a0001c0003t0008g0127a0001c0004t0004g0121 | 2 | 186 | 0.0108 | -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 | a0001c0001t0012g0179a0001c0002t0001g0009a0001c0002t0012g0174others(2): Show | 5 | 186 | 0.0269 | -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(36): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0008a0001c0001t0012a0001c0001t0015others(23): Show | a0001c0001t0008g0101a0001c0001t0012g0179a0001c0001t0015g0176others(36): Show | 39 | 186 | 0.2097 | -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 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0046others(5): Show | 8 | 366 | 0.0219 | -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 |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(98): Show | 111 | 321 | 0.3458 | -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(213): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(24): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0011others(192): Show | 216 | 372 | 0.5807 | -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 | a0001c0001t0001g0042a0001c0001t0001g0126a0001c0001t0001g0149 | 3 | 266 | 0.0113 | -7 | c.-17 others(16): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 165 | chr17 | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41552093 | ATTTTTTT | A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 164 | 0.0061 | -7 | c.203 others(26): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 21/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41563040 | CAAAAAAA | C | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0066 | 1 | 164 | 0.0061 | -7 | c.158 others(26): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 16/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41613067 | CCCGGCCG | C | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 164 | 0.0061 | -7 | c.103 others(26): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 11/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41613629 | TAAAAAAA | T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0150 | 1 | 164 | 0.0061 | -7 | c.103 others(26): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 11/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41635889 | CTTTTTTT | C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 164 | 0.0061 | -7 | c.915 others(22): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 9/26 | chrX | TogoVar | ||||||
CASP14_chr19_15044480_15063293 | 15044858 | CTTTCTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(132): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0013others(56): Show | 135 | 428 | 0.3154 | -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 | a0002c0004t0003g0030a0002c0004t0003g0053a0002c0004t0003g0057others(3): Show | 7 | 358 | 0.0196 | -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(428): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0002c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(133): Show | 431 | 440 | 0.9796 | -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 | a0004c0010t0001g0035a0004c0010t0001g0074a0004c0010t0001g0246others(3): Show | 6 | 376 | 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(117): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(117): Show | 120 | 228 | 0.5263 | -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 | a0001c0001t0003g0057a0001c0001t0003g0088a0001c0001t0003g0090others(23): Show | 26 | 228 | 0.1140 | -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(8): Show | a0001c0003a0001c0004a0001c0009others(16): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(37): Show | a0001c0003t0001g0207a0001c0003t0002g0046a0001c0003t0002g0050others(68): Show | 71 | 236 | 0.3009 | -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 |
a0003a0004a0013 | a0003c0004a0004c0006a0013c0026 | a0003c0004t0001a0004c0006t0003a0013c0026t0001 | a0003c0004t0001g0014a0003c0004t0001g0024a0004c0006t0003g0012others(6): Show | 15 | 408 | 0.0368 | -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(375): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0009others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(191): Show | 378 | 398 | 0.9498 | -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(57): Show |
a0001a0002a0004others(1): Show | a0001c0015a0002c0002a0002c0014others(2): Show | a0001c0015t0002a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0015t0002g0043a0002c0002t0001g0003a0002c0002t0001g0011others(32): Show | 60 | 398 | 0.1508 | -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 | a0001c0001t0001g0030a0001c0001t0001g0065a0001c0001t0001g0066others(2): Show | 6 | 398 | 0.0151 | -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 | a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0001g0068others(8): Show | 11 | 271 | 0.0406 | -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 | a0001c0001t0001g0155a0001c0001t0001g0188a0001c0001t0001g0197others(66): Show | 69 | 271 | 0.2546 | -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 |
a0001a0014a0016others(1): Show | a0001c0001a0014c0017a0016c0013others(1): Show | a0001c0001t0005a0014c0017t0002a0016c0013t0001others(1): Show | a0001c0001t0005g0142a0014c0017t0002g0223a0014c0017t0002g0224others(3): Show | 6 | 336 | 0.0179 | -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 | a0001c0001t0001g0033a0001c0001t0001g0038a0001c0001t0001g0040others(46): Show | 49 | 206 | 0.2379 | -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 | a0001c0002t0003g0143a0001c0018t0003g0142a0008c0024t0001g0081 | 3 | 206 | 0.0146 | -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 | a0001c0001t0004g0074a0001c0001t0004g0319a0001c0002t0001g0265others(1): Show | 4 | 342 | 0.0117 | -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 | a0001c0001t0002g0240a0001c0001t0002g0254a0001c0001t0003g0169others(3): Show | 6 | 342 | 0.0175 | -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 | a0001c0001t0001g0094a0001c0001t0001g0155a0001c0001t0002g0202others(4): Show | 7 | 342 | 0.0205 | -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 | a0001c0001t0001g0041a0001c0001t0001g0128a0001c0001t0001g0141others(30): Show | 34 | 338 | 0.1006 | -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 | a0001c0001t0005g0079a0001c0001t0005g0080a0001c0001t0005g0081others(5): Show | 8 | 298 | 0.0269 | -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 | a0001c0001t0004g0017a0001c0001t0004g0019a0001c0001t0004g0020others(26): Show | 29 | 298 | 0.0973 | -7 | c.34+ others(24): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |