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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLCN4_chrX_10151975_10242660 | 10239513 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00735.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0002g0022others(23): Show | 26 | 264 | 0.0985 | -7 | c.*59 others(18): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 1854 | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 49987131 | CATTTTTT | C | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 175 | 0.0057 | -7 | c.17- others(24): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50077812 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG01255.hp1 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0123a0001c0001t0004g0163a0001c0001t0005g0171others(7): Show | 10 | 175 | 0.0571 | -7 | c.603 others(24): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN7_chr16_1439935_1480028 | 1462365 | CTTTTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01169.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0035a0001c0001t0049a0001c0002t0001others(15): Show | a0001c0001t0035g0034a0001c0001t0049g0238a0001c0002t0001g0128others(24): Show | 29 | 404 | 0.0718 | -7 | c.214 others(22): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 2/24 | chr16 | TogoVar | ||||||
CLDN16_chr3_190383163_190417138 | 190408826 | ATATATAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00642.hp1 others(10): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0005a0004c0004t0005 | a0001c0001t0005g0022a0001c0001t0005g0029a0001c0001t0005g0147others(5): Show | 13 | 438 | 0.0297 | -7 | c.574 others(22): Show |
CLDN16 | ENSG00000113946.4 | transcript | ENST00000264734.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLDN19_chr1_42728093_42745236 | 42729417 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00733.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0003a0001c0001t0003g0017a0001c0001t0003g0021others(3): Show | 35 | 428 | 0.0818 | -7 | c.*56 others(18): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 3675 | chr1 | TogoVar | ||||||
CLDN20_chr6_155259013_155281548 | 155265730 | ATATATAT | A | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029a0001c0002t0001g0030a0001c0002t0001g0069others(2): Show | 7 | 384 | 0.0182 | -7 | c.-10 others(26): Show |
CLDN20 | ENSG00000171217.5 | transcript | ENST00000367165.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CLDN4_chr7_73825996_73837690 | 73828073 | GCGGGGGC | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(258): Show |
a0000a0001a0003others(3): Show | a0000c0005a0001c0001a0003c0007others(3): Show | a0000c0005t0002a0001c0001t0001a0001c0001t0002others(8): Show | a0000c0005t0002g0000a0001c0001t0001g0000a0001c0001t0002g0000others(8): Show | 261 | 372 | 0.7016 | -7 | c.-31 others(18): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 2922 | chr7 | TogoVar | ||||||
CLDN7_chr17_7254903_7267478 | 7265112 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG01361.hp1 others(13): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0002 | a0001c0003t0002g0003a0002c0002t0002g0002 | 16 | 418 | 0.0383 | -7 | c.-30 others(18): Show |
CLDN7 | ENSG00000181885.18 | transcript | ENST00000360325.11 | protein_coding | 2635 | chr17 | TogoVar | ||||||
CLDN7_chr17_7254903_7267478 | 7267162 | TAAATTGC | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(197): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(15): Show | 200 | 418 | 0.4785 | -7 | c.-51 others(18): Show |
CLDN7 | ENSG00000181885.18 | transcript | ENST00000360325.11 | protein_coding | 4685 | chr17 | TogoVar | ||||||
CLEC16A_chr16_10939564_11187186 | 10998991 | GAAAAAAC | G | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0005a0001c0016 | a0001c0005t0001a0001c0005t0004a0001c0016t0001 | a0001c0005t0001g0232a0001c0005t0001g0233a0001c0005t0004g0099others(2): Show | 5 | 274 | 0.0183 | -7 | c.107 others(26): Show |
CLEC16A | ENSG00000038532.17 | transcript | ENST00000409790.6 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CLEC16A_chr16_10939564_11187186 | 11083145 | GTTGTTGT | G | intron_variant | MODIFIER | HG03225.hp2 HG03486.hp1 HG03492.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0016a0001c0007t0017 | a0001c0002t0001g0239a0001c0007t0016g0146a0001c0007t0017g0147 | 3 | 274 | 0.0110 | -7 | c.211 others(28): Show |
CLEC16A | ENSG00000038532.17 | transcript | ENST00000409790.6 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CLEC18A_chr16_69946334_69968986 | 69946392 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(231): Show |
a0001a0002a0005others(10): Show | a0001c0001a0001c0032a0001c0035others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0015others(120): Show | 234 | 379 | 0.6174 | -7 | c.-49 others(18): Show |
CLEC18A | ENSG00000157322.18 | transcript | ENST00000288040.11 | protein_coding | 4941 | chr16 | TogoVar | ||||||
CLEC1A_chr12_10064554_10103985 | 10097898 | TTACTGGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01081.hp2 others(19): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0071a0001c0001t0001g0077a0001c0001t0001g0078others(17): Show | 22 | 384 | 0.0573 | -7 | c.115 others(22): Show |
CLEC1A | ENSG00000150048.10 | transcript | ENST00000315330.8 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
CLEC2D_chr12_9664713_9704553 | 9696543 | TAAAGTAA | T | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01261.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0012a0002c0002t0039 | a0002c0002t0012g0002a0002c0002t0012g0003a0002c0002t0039g0075 | 6 | 388 | 0.0155 | -7 | c.*16 others(18): Show |
CLEC2D | ENSG00000069493.15 | transcript | ENST00000290855.11 | protein_coding | 5/5 | 1673 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
CLEC2L_chr7_139518685_139549985 | 139519354 | TTTTTTTA | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG02300.hp1 HG03017.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0046others(2): Show | 5 | 308 | 0.0162 | -7 | c.-45 others(18): Show |
CLEC2L | ENSG00000236279.7 | transcript | ENST00000422142.7 | protein_coding | 4330 | chr7 | TogoVar | ||||||
CLEC2L_chr7_139518685_139549985 | 139547570 | TTTATTTA | T | downstream_gene_variant | MODIFIER | HG01952.hp1 HG02486.hp1 HG02572.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0001 | a0001c0001t0002g0102a0001c0001t0002g0142a0001c0001t0002g0143others(4): Show | 7 | 308 | 0.0227 | -7 | c.*32 others(18): Show |
CLEC2L | ENSG00000236279.7 | transcript | ENST00000422142.7 | protein_coding | 2586 | chr7 | TogoVar | ||||||
CLEC4G_chr19_7723957_7737110 | 7737004 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02451.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0030a0001c0001t0001g0032others(5): Show | 8 | 432 | 0.0185 | -7 | c.-49 others(18): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 4895 | chr19 | TogoVar | ||||||
CLGN_chr4_140383453_140432648 | 140429883 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(124): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0007t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(96): Show | 127 | 358 | 0.3548 | -7 | c.-23 others(18): Show |
CLGN | ENSG00000153132.13 | transcript | ENST00000325617.10 | protein_coding | 2236 | chr4 | TogoVar | ||||||
CLHC1_chr2_55167547_55237293 | 55217547 | AAAAAAAT | A | intron_variant | MODIFIER | HG00544.hp2 HG01358.hp1 HG01928.hp2 others(18): Show |
a0001a0015 | a0001c0002a0015c0024 | a0001c0002t0002a0001c0002t0031a0015c0024t0021 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0312others(14): Show | 21 | 404 | 0.0520 | -7 | c.365 others(22): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
CLHC1_chr2_55167547_55237293 | 55217549 | AAAAATAT | A | intron_variant | MODIFIER | HG00408.hp2 HG01123.hp1 HG01978.hp2 others(5): Show |
a0001a0013 | a0001c0002a0013c0015 | a0001c0002t0002a0013c0015t0001 | a0001c0002t0002g0342a0001c0002t0002g0343a0001c0002t0002g0344others(5): Show | 8 | 404 | 0.0198 | -7 | c.365 others(22): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
CLHC1_chr2_55167547_55237293 | 55233470 | CCTGTAGG | C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02559.hp1 HG02630.hp1 others(12): Show |
a0002a0007 | a0002c0001a0007c0014 | a0002c0001t0005a0002c0001t0028a0007c0014t0018 | a0002c0001t0005g0011a0002c0001t0005g0012a0002c0001t0005g0269others(10): Show | 15 | 404 | 0.0371 | -7 | c.-15 others(18): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 1178 | chr2 | TogoVar | ||||||
CLIC4_chr1_24740447_24849321 | 24744701 | AAAAAAAT | A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01168.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0105a0001c0001t0001g0257a0001c0001t0001g0258others(18): Show | 21 | 344 | 0.0611 | -7 | c.-85 others(16): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 745 | chr1 | TogoVar | ||||||
CLIC4_chr1_24740447_24849321 | 24766473 | GTTTTTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01106.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0146a0001c0001t0001g0276others(25): Show | 28 | 344 | 0.0814 | -7 | c.72+ others(24): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLIC5_chr6_45893456_46020860 | 45926243 | ATTTTATT | A | intron_variant | MODIFIER | HG00738.hp2 HG01978.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0233a0001c0001t0010g0274a0001c0001t0010g0299 | 3 | 340 | 0.0088 | -7 | c.407 others(26): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
CLIC6_chr21_34663994_34723223 | 34671136 | AAAAAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(61): Show |
a0001a0002a0010others(3): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0002a0002c0002t0003a0002c0002t0004others(20): Show | a0001c0001t0002g0230a0001c0001t0002g0231a0002c0002t0003g0007others(56): Show | 64 | 312 | 0.2051 | -7 | c.137 others(24): Show |
CLIC6 | ENSG00000159212.13 | transcript | ENST00000349499.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CLIP1_chr12_122266469_122427669 | 122306998 | CTTTTTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG01169.hp2 HG01515.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0002 | a0001c0001t0008g0076a0002c0002t0002g0102a0002c0002t0002g0111others(4): Show | 7 | 234 | 0.0299 | -7 | c.359 others(26): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 20/25 | chr12 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122341762 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(62): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0174a0001c0001t0001g0195a0001c0001t0001g0201others(62): Show | 65 | 234 | 0.2778 | -7 | c.150 others(22): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 10/25 | chr12 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122358744 | TAAAAAAA | T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0004t0005a0001c0004t0010 | a0001c0001t0007g0002a0001c0001t0007g0008a0001c0001t0007g0012others(6): Show | 9 | 234 | 0.0385 | -7 | c.100 others(26): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 5/25 | chr12 | TogoVar | ||||||
CLIP4_chr2_29110415_29188808 | 29180049 | AATGAAAT | A | intron_variant | MODIFIER | HG03041.hp2 HG03139.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0017a0001c0002t0007others(1): Show | a0001c0001t0009g0149a0001c0001t0017g0229a0001c0002t0007g0060others(2): Show | 5 | 292 | 0.0171 | -7 | c.179 others(26): Show |
CLIP4 | ENSG00000115295.21 | transcript | ENST00000320081.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CLK1_chr2_200848009_200869658 | 200850147 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG03017.hp1 NA18948.hp1 NA18955.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0028a0001c0001t0001g0032a0001c0001t0001g0080others(2): Show | 8 | 418 | 0.0191 | -7 | c.*31 others(18): Show |
CLK1 | ENSG00000013441.17 | transcript | ENST00000321356.9 | protein_coding | 2861 | chr2 | TogoVar | ||||||
CLMN_chr14_95176940_95324908 | 95268790 | CTCTCTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG01261.hp2 others(23): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0096a0001c0001t0001g0098a0001c0001t0001g0180others(22): Show | 26 | 276 | 0.0942 | -7 | c.83- others(24): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123076991 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00741.hp2 others(57): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0004g0019a0001c0001t0004g0027a0001c0001t0004g0032others(57): Show | 60 | 254 | 0.2362 | -7 | c.680 others(24): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 5/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123089793 | AGAAAAAG | A | intron_variant | MODIFIER | HG00438.hp1 HG02080.hp1 HG03130.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011a0001c0001t0021others(1): Show | a0001c0001t0006g0143a0001c0001t0006g0146a0001c0001t0006g0151others(8): Show | 11 | 254 | 0.0433 | -7 | c.187 others(24): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 2/6 | chr11 | TogoVar | ||||||
CLN8_chr8_1758789_1791570 | 1763411 | GCCGCGCC | G | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02970.hp1 HG03139.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0058a0003c0003t0026a0003c0003t0060 | a0001c0001t0058g0177a0003c0003t0026g0052a0003c0003t0060g0141 | 4 | 413 | 0.0097 | -7 | c.-59 others(16): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 377 | chr8 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10655637 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(107): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0024a0001c0001t0001g0041a0001c0001t0001g0052others(107): Show | 110 | 320 | 0.3438 | -7 | c.11+ others(24): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CLSPN_chr1_35727112_35774978 | 35738114 | ATATATAT | A | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02717.hp2 others(7): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0025a0003c0003t0013a0003c0003t0014others(1): Show | a0001c0001t0025g0114a0003c0003t0013g0191a0003c0003t0014g0195others(5): Show | 10 | 296 | 0.0338 | -7 | c.355 others(22): Show |
CLSPN | ENSG00000092853.14 | transcript | ENST00000318121.8 | protein_coding | 21/24 | chr1 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140171752 | GTATAATA | G | intron_variant | MODIFIER | HG00621.hp1 HG01261.hp2 HG02630.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0029others(5): Show | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0014g0032others(6): Show | 9 | 110 | 0.0818 | -7 | c.110 others(24): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140190438 | CAAAAAAA | C | intron_variant | MODIFIER | HG01123.hp1 HG02257.hp1 HG02922.hp1 others(3): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0005others(1): Show | a0001c0006t0002a0001c0006t0004a0002c0002t0005others(3): Show | a0001c0006t0002g0012a0001c0006t0004g0013a0002c0002t0005g0050others(3): Show | 6 | 110 | 0.0546 | -7 | c.232 others(26): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140274738 | TGAAGAAA | T | intron_variant | MODIFIER | HG01496.hp2 HG02622.hp2 HG02886.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0011a0001c0001t0041a0002c0002t0011others(3): Show | a0001c0001t0011g0031a0001c0001t0041g0047a0002c0002t0011g0039others(3): Show | 6 | 110 | 0.0546 | -7 | c.232 others(26): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140305250 | ATATATAT | A | intron_variant | MODIFIER | HG01496.hp2 HG03486.hp2 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0002a0002c0016 | a0001c0001t0011a0002c0002t0026a0002c0016t0015 | a0001c0001t0011g0031a0002c0002t0026g0094a0002c0016t0015g0088 | 3 | 110 | 0.0273 | -7 | c.233 others(26): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN3_chr12_7125371_7163945 | 7126513 | GTGTGTGT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00741.hp1 others(41): Show |
a0001a0002 | a0001c0001a0001c0016a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0016t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0010others(38): Show | 44 | 394 | 0.1117 | -7 | c.-41 others(18): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 3857 | chr12 | TogoVar | ||||||
CLTA_chr9_36185921_36217059 | 36210099 | TTTTTTTC | T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00642.hp1 others(58): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0003 | a0001c0002t0003g0003a0001c0002t0003g0013a0001c0002t0003g0014others(29): Show | 61 | 400 | 0.1525 | -7 | c.486 others(24): Show |
CLTA | ENSG00000122705.18 | transcript | ENST00000345519.10 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CLTB_chr5_176387501_176421539 | 176405489 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01256.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0061others(4): Show | 12 | 406 | 0.0296 | -7 | c.234 others(24): Show |
CLTB | ENSG00000175416.16 | transcript | ENST00000310418.9 | protein_coding | 2/5 | chr5 | TogoVar | ||||||
CLTCL1_chr22_19174473_19296719 | 19217615 | CAAAAAAA | C | intron_variant | MODIFIER | HG01346.hp1 HG01891.hp1 HG02109.hp1 others(11): Show |
a0003 | a0003c0005 | a0003c0005t0001a0003c0005t0008a0003c0005t0013 | a0003c0005t0001g0125a0003c0005t0001g0126a0003c0005t0001g0127others(11): Show | 14 | 346 | 0.0405 | -7 | c.292 others(26): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 18/32 | chr22 | TogoVar | ||||||
CLTC_chr17_59614895_59701956 | 59659429 | ATTTTTAT | A | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG01952.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0115a0001c0001t0001g0116others(4): Show | 8 | 260 | 0.0308 | -7 | c.970 others(22): Show |
CLTC | ENSG00000141367.13 | transcript | ENST00000269122.8 | protein_coding | 6/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CLTC_chr17_59614895_59701956 | 59670282 | TTTTTTTG | T | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp1 HG01934.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0088others(19): Show | 22 | 260 | 0.0846 | -7 | c.229 others(26): Show |
CLTC | ENSG00000141367.13 | transcript | ENST00000269122.8 | protein_coding | 14/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CLTC_chr17_59614895_59701956 | 59685288 | TTATAATC | T | intron_variant | MODIFIER | HG03041.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025a0001c0001t0003g0027 | 2 | 260 | 0.0077 | -7 | c.460 others(22): Show |
CLTC | ENSG00000141367.13 | transcript | ENST00000269122.8 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CLTRN_chrX_15622318_15669805 | 15622834 | CTTTTTGG | C | downstream_gene_variant | MODIFIER | HG00621.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0060 | 2 | 295 | 0.0068 | -7 | c.*51 others(18): Show |
CLTRN | ENSG00000147003.7 | transcript | ENST00000380342.4 | protein_coding | 4483 | chrX | TogoVar | ||||||
CLUH_chr17_2684387_2716764 | 2685622 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01346.hp2 HG01496.hp1 others(35): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0034others(27): Show | 38 | 420 | 0.0905 | -7 | c.*49 others(18): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 3764 | chr17 | TogoVar |