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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLCN7_chr16_1439935_1480028 | 1448774 | C | T | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(26): Show |
a0001a0002a0004 | a0001c0004a0002c0006a0002c0008others(5): Show | a0001c0004t0001a0001c0004t0030a0002c0006t0010others(12): Show | a0001c0004t0001g0300a0001c0004t0030g0371a0002c0006t0010g0010others(24): Show | 29 | 404 | 0.0718 | 0 | c.179 others(6): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 19/24 | chr16 | TogoVar | ||||||
CLCN7_chr16_1439935_1480028 | 1449092 | G | A | splice_region_variant others(1): Show |
LOW | HG03098.hp2 HG03209.hp1 HG03471.hp2 others(3): Show |
a0002 | a0002c0011a0002c0012 | a0002c0011t0018a0002c0012t0014 | a0002c0011t0018g0254a0002c0011t0018g0270a0002c0011t0018g0271others(3): Show | 6 | 404 | 0.0149 | 0 | c.167 others(4): Show |
p.Gly others(6): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 19/25 | 1725/4168 | 1671/2418 | 557/805 | chr16 | TogoVar | ||
CLCN7_chr16_1439935_1480028 | 1453892 | C | T | missense_variant others(1): Show |
MODERATE | HG02273.hp2 | a0007 | a0007c0025 | a0007c0025t0002 | a0007c0025t0002g0352 | 1 | 404 | 0.0025 | 0 | c.115 others(4): Show |
p.Gly others(6): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 14/25 | 1210/4168 | 1156/2418 | 386/805 | chr16 | TogoVar | ||
CLCN7_chr16_1439935_1480028 | 1457328 | TCGGCCCT others(93): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG01993.hp1 | a0003 | a0003c0023 | a0003c0023t0002 | a0003c0023t0002g0323 | 1 | 404 | 0.0025 | -100 | c.739 others(110): Show |
p.Glu others(13): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 9/25 | 801/4168 | 739/2418 | 247/805 | chr16 | TogoVar | ||
CLCN7_chr16_1439935_1480028 | 1457328 | TCGGCCCT others(143): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG02622.hp1 HG02622.hp2 |
a0003 | a0003c0016a0003c0021 | a0003c0016t0050a0003c0021t0013 | a0003c0016t0050g0154a0003c0021t0013g0189 | 2 | 404 | 0.0050 | -150 | c.739 others(11): Show |
p.Glu others(13): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 9/25 | 801/4168 | 739/2418 | 247/805 | chr16 | TogoVar | ||
CLCN7_chr16_1439935_1480028 | 1457328 | TCGGCCCT others(193): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | NA19079.hp1 | a0003 | a0003c0013 | a0003c0013t0021 | a0003c0013t0021g0055 | 1 | 404 | 0.0025 | -200 | c.738 others(11): Show |
p.Glu others(13): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 9/25 | 801/4168 | 739/2418 | 247/805 | chr16 | TogoVar | ||
CLCN7_chr16_1439935_1480028 | 1457328 | TCGGCCCT others(243): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG01978.hp2 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0109 | 1 | 404 | 0.0025 | -250 | c.738 others(11): Show |
p.Glu others(13): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 9/25 | 801/4168 | 739/2418 | 247/805 | chr16 | TogoVar | ||
CLCN7_chr16_1439935_1480028 | 1474826 | G | C | splice_region_variant others(1): Show |
LOW | HG02055.hp1 | a0002 | a0002c0009 | a0002c0009t0005 | a0002c0009t0005g0284 | 1 | 404 | 0.0025 | 0 | c.141 others(5): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 1/24 | chr16 | TogoVar | ||||||
CLCNKA_chr1_16017036_16039050 | 16024764 | A | C | splice_region_variant others(1): Show |
LOW | NA18949.hp2 | a0023 | a0023c0031 | a0023c0031t0002 | a0023c0031t0002g0075 | 1 | 392 | 0.0026 | 0 | c.231 others(3): Show |
p.Ala others(5): Show |
CLCNKA | ENSG00000186510.12 | transcript | ENST00000331433.5 | protein_coding | 4/20 | 266/2491 | 231/2064 | 77/687 | chr1 | TogoVar | ||
CLCNKA_chr1_16017036_16039050 | 16024765 | C | A | missense_variant others(1): Show |
MODERATE | NA18949.hp2 | a0023 | a0023c0031 | a0023c0031t0002 | a0023c0031t0002g0075 | 1 | 392 | 0.0026 | 0 | c.232 others(3): Show |
p.His others(5): Show |
CLCNKA | ENSG00000186510.12 | transcript | ENST00000331433.5 | protein_coding | 4/20 | 267/2491 | 232/2064 | 78/687 | chr1 | TogoVar | ||
CLCNKA_chr1_16017036_16039050 | 16026613 | G | A | splice_region_variant others(1): Show |
LOW | HG02132.hp1 | a0003 | a0003c0020 | a0003c0020t0002 | a0003c0020t0002g0087 | 1 | 392 | 0.0026 | 0 | c.576 others(3): Show |
p.Glu others(6): Show |
CLCNKA | ENSG00000186510.12 | transcript | ENST00000331433.5 | protein_coding | 6/20 | 611/2491 | 576/2064 | 192/687 | chr1 | TogoVar | ||
CLCNKA_chr1_16017036_16039050 | 16029118 | C | T | splice_region_variant others(1): Show |
LOW | HG02145.hp1 HG03209.hp1 |
a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0022 | 2 | 392 | 0.0051 | 0 | c.105 others(6): Show |
CLCNKA | ENSG00000186510.12 | transcript | ENST00000331433.5 | protein_coding | 11/19 | chr1 | TogoVar | ||||||
CLCNKA_chr1_16017036_16039050 | 16029119 | G | A | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG01074.hp1 HG01081.hp2 others(14): Show |
a0005a0008 | a0005c0006a0008c0013 | a0005c0006t0004a0008c0013t0004 | a0005c0006t0004g0008a0005c0006t0004g0066a0005c0006t0004g0067others(7): Show | 17 | 392 | 0.0434 | 0 | c.105 others(6): Show |
CLCNKA | ENSG00000186510.12 | transcript | ENST00000331433.5 | protein_coding | 11/19 | chr1 | TogoVar | ||||||
CLCNKA_chr1_16017036_16039050 | 16030455 | C | T | splice_region_variant others(1): Show |
LOW | NA20300.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0040 | 1 | 392 | 0.0026 | 0 | c.140 others(6): Show |
CLCNKA | ENSG00000186510.12 | transcript | ENST00000331433.5 | protein_coding | 14/19 | chr1 | TogoVar | ||||||
CLCNKA_chr1_16017036_16039050 | 16030672 | C | T | splice_region_variant others(1): Show |
LOW | HG03453.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0048 | 1 | 392 | 0.0026 | 0 | c.162 others(4): Show |
p.Ile others(6): Show |
CLCNKA | ENSG00000186510.12 | transcript | ENST00000331433.5 | protein_coding | 15/20 | 1655/2491 | 1620/2064 | 540/687 | chr1 | TogoVar | ||
CLCNKA_chr1_16017036_16039050 | 16032296 | T | G | splice_region_variant others(1): Show |
LOW | NA19003.hp1 | a0019 | a0019c0030 | a0019c0030t0002 | a0019c0030t0002g0049 | 1 | 392 | 0.0026 | 0 | c.184 others(6): Show |
CLCNKA | ENSG00000186510.12 | transcript | ENST00000331433.5 | protein_coding | 17/19 | chr1 | TogoVar | ||||||
CLCNKA_chr1_16017036_16039050 | 16032437 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(299): Show |
a0001a0003a0004others(15): Show | a0001c0001a0001c0005a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0010others(83): Show | 302 | 392 | 0.7704 | 0 | c.184 others(6): Show |
CLCNKA | ENSG00000186510.12 | transcript | ENST00000331433.5 | protein_coding | 17/19 | chr1 | TogoVar | ||||||
CLCNKA_chr1_16017036_16039050 | 16032524 | C | G | missense_variant others(1): Show |
MODERATE | NA19003.hp1 | a0019 | a0019c0030 | a0019c0030t0002 | a0019c0030t0002g0049 | 1 | 392 | 0.0026 | 0 | c.192 others(4): Show |
p.Gln others(6): Show |
CLCNKA | ENSG00000186510.12 | transcript | ENST00000331433.5 | protein_coding | 18/20 | 1962/2491 | 1927/2064 | 643/687 | chr1 | TogoVar | ||
CLCNKA_chr1_16017036_16039050 | 16032532 | A | G | splice_region_variant others(1): Show |
LOW | NA19003.hp1 | a0019 | a0019c0030 | a0019c0030t0002 | a0019c0030t0002g0049 | 1 | 392 | 0.0026 | 0 | c.192 others(6): Show |
CLCNKA | ENSG00000186510.12 | transcript | ENST00000331433.5 | protein_coding | 18/19 | chr1 | TogoVar | ||||||
CLCNKB_chr1_16038782_16062308 | 16046536 | G | A | splice_region_variant others(1): Show |
LOW | HG04184.hp2 | a0001 | a0001c0044 | a0001c0044t0001 | a0001c0044t0001g0193 | 1 | 428 | 0.0023 | 0 | c.231 others(3): Show |
p.Ala others(5): Show |
CLCNKB | ENSG00000184908.20 | transcript | ENST00000375679.9 | protein_coding | 4/20 | 337/2562 | 231/2064 | 77/687 | chr1 | TogoVar | ||
CLCNKB_chr1_16038782_16062308 | 16048499 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0030a0001c0031others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(164): Show | 325 | 428 | 0.7594 | 0 | c.577 others(5): Show |
CLCNKB | ENSG00000184908.20 | transcript | ENST00000375679.9 | protein_coding | 6/19 | chr1 | TogoVar | ||||||
CLCNKB_chr1_16038782_16062308 | 16053639 | T | C | splice_region_variant others(1): Show |
LOW | NA19075.hp2 | a0001 | a0001c0050 | a0001c0050t0001 | a0001c0050t0001g0023 | 1 | 428 | 0.0023 | 0 | c.162 others(4): Show |
p.Gly others(6): Show |
CLCNKB | ENSG00000184908.20 | transcript | ENST00000375679.9 | protein_coding | 16/20 | 1729/2562 | 1623/2064 | 541/687 | chr1 | TogoVar | ||
CLCNKB_chr1_16038782_16062308 | 16055764 | G | A | splice_region_variant others(1): Show |
LOW | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 428 | 0.0023 | 0 | c.192 others(6): Show |
CLCNKB | ENSG00000184908.20 | transcript | ENST00000375679.9 | protein_coding | 18/19 | chr1 | TogoVar | ||||||
CLCNKB_chr1_16038782_16062308 | 16056416 | A | G | splice_region_variant others(1): Show |
LOW | HG02027.hp2 NA18944.hp1 NA18982.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0002c0003t0001a0003c0002t0005 | a0001c0001t0001g0058a0001c0001t0001g0119a0002c0003t0001g0123others(1): Show | 5 | 428 | 0.0117 | 0 | c.193 others(6): Show |
CLCNKB | ENSG00000184908.20 | transcript | ENST00000375679.9 | protein_coding | 18/19 | chr1 | TogoVar | ||||||
CLDN19_chr1_42728093_42745236 | 42738311 | G | A | missense_variant others(1): Show |
MODERATE | HG03486.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0060 | 1 | 428 | 0.0023 | 0 | c.391 others(3): Show |
p.Leu others(6): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 3/5 | 564/2841 | 391/675 | 131/224 | chr1 | TogoVar | ||
CLDN19_chr1_42728093_42745236 | 42738317 | A | C | splice_region_variant others(1): Show |
LOW | HG03486.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0060 | 1 | 428 | 0.0023 | 0 | c.389 others(5): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
CLDN19_chr1_42728093_42745236 | 42738319 | G | A | splice_region_variant others(1): Show |
LOW | HG03486.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0060 | 1 | 428 | 0.0023 | 0 | c.389 others(5): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
CLDN19_chr1_42728093_42745236 | 42738320 | A | C | splice_region_variant others(1): Show |
LOW | HG03486.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0060 | 1 | 428 | 0.0023 | 0 | c.389 others(5): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
CLDN19_chr1_42728093_42745236 | 42738423 | G | C | missense_variant others(1): Show |
MODERATE | HG03486.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0060 | 1 | 428 | 0.0023 | 0 | c.386 others(3): Show |
p.Ala others(6): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 2/5 | 559/2841 | 386/675 | 129/224 | chr1 | TogoVar | ||
CLDN1_chr3_190300707_190327446 | 190310163 | C | T | splice_region_variant others(1): Show |
LOW | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0135 | 1 | 468 | 0.0021 | 0 | c.473 others(5): Show |
CLDN1 | ENSG00000163347.6 | transcript | ENST00000295522.4 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
CLDN1_chr3_190300707_190327446 | 190312865 | C | T | splice_region_variant others(1): Show |
LOW | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0110 | 1 | 468 | 0.0021 | 0 | c.388 others(5): Show |
CLDN1 | ENSG00000163347.6 | transcript | ENST00000295522.4 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
CLDN23_chr8_8696937_8709096 | 8704095 | T | C | splice_region_variant | LOW | HG02965.hp1 | a0002 | a0002c0018 | a0002c0018t0020 | a0002c0018t0020g0000 | 1 | 438 | 0.0023 | 0 | c.*81 others(4): Show |
CLDN23 | ENSG00000253958.2 | transcript | ENST00000519106.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
CLDND2_chr19_51362098_51374003 | 51367452 | T | G | splice_region_variant others(1): Show |
LOW | HG01070.hp1 HG02615.hp2 HG02622.hp2 others(9): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0005 | 12 | 440 | 0.0273 | 0 | c.430 others(5): Show |
CLDND2 | ENSG00000160318.6 | transcript | ENST00000291715.5 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
CLEC10A_chr17_7069537_7085251 | 7075890 | T | C | splice_region_variant others(1): Show |
LOW | NA18965.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0053 | 1 | 458 | 0.0022 | 0 | c.440 others(5): Show |
CLEC10A | ENSG00000132514.14 | transcript | ENST00000416562.7 | protein_coding | 6/8 | chr17 | TogoVar | ||||||
CLEC12B_chr12_10005627_10023796 | 10015253 | C | A | missense_variant others(1): Show |
MODERATE | HG04115.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0037 | 1 | 466 | 0.0022 | 0 | c.411 others(3): Show |
p.Asp others(6): Show |
CLEC12B | ENSG00000256660.7 | transcript | ENST00000338896.11 | protein_coding | 4/6 | 544/1279 | 411/831 | 137/276 | chr12 | TogoVar | ||
CLEC16A_chr16_10939564_11187186 | 10969154 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(17): Show | a0001c0002t0001g0054a0001c0002t0001g0087a0001c0002t0001g0089others(60): Show | 63 | 274 | 0.2299 | 0 | c.344 others(5): Show |
CLEC16A | ENSG00000038532.17 | transcript | ENST00000409790.6 | protein_coding | 3/23 | chr16 | TogoVar | ||||||
CLEC16A_chr16_10939564_11187186 | 11125974 | C | T | splice_region_variant others(1): Show |
LOW | NA18945.hp2 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0251 | 1 | 274 | 0.0037 | 0 | c.247 others(6): Show |
CLEC16A | ENSG00000038532.17 | transcript | ENST00000409790.6 | protein_coding | 21/23 | chr16 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14583201 | C | T | missense_variant others(1): Show |
MODERATE | HG01943.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0136 | 1 | 364 | 0.0028 | 0 | c.41C others(2): Show |
p.Pro others(5): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 1/14 | 118/3053 | 41/1137 | 14/378 | chr19 | TogoVar | ||
CLEC17A_chr19_14578084_14617035 | 14585083 | TCCTTTCA others(4254): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02109.hp2 | a0009 | a0009c0004 | a0009c0004t0002 | a0009c0004t0002g0084 | 1 | 364 | 0.0028 | -4261 | c.121 others(17): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CLEC17A_chr19_14578084_14617035 | 14585489 | TGACTCAG others(4256): Show |
T | exon_loss_variant others(4): Show |
HIGH | NA19063.hp1 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0123 | 1 | 364 | 0.0028 | -4263 | c.122 others(17): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CLEC17A_chr19_14578084_14617035 | 14594687 | G | A | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG01891.hp1 HG01934.hp2 others(34): Show |
a0002a0003a0008others(1): Show | a0002c0002a0003c0003a0008c0005others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0002c0002t0001g0072a0002c0002t0002g0077a0002c0002t0003g0049others(33): Show | 37 | 364 | 0.1017 | 0 | c.361 others(5): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 6/13 | chr19 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14597091 | C | G | splice_region_variant others(1): Show |
LOW | HG01934.hp2 HG03834.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0073a0002c0002t0003g0074 | 2 | 364 | 0.0055 | 0 | c.584 others(5): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 9/13 | chr19 | TogoVar | ||||||
CLEC18A_chr16_69946334_69968986 | 69958944 | C | T | splice_region_variant others(1): Show |
LOW | HG06807.hp2 NA19030.hp1 |
a0001 | a0001c0032a0001c0035 | a0001c0032t0001a0001c0035t0001 | a0001c0032t0001g0089a0001c0035t0001g0076 | 2 | 379 | 0.0053 | 0 | c.459 others(3): Show |
p.Leu others(6): Show |
CLEC18A | ENSG00000157322.18 | transcript | ENST00000288040.11 | protein_coding | 4/12 | 492/1749 | 459/1341 | 153/446 | chr16 | TogoVar | ||
CLEC18A_chr16_69946334_69968986 | 69959038 | A | G | missense_variant others(1): Show |
MODERATE | HG00438.hp2 HG01884.hp1 HG01891.hp2 others(14): Show |
a0008a0009a0011others(4): Show | a0008c0009a0009c0010a0011c0016others(4): Show | a0008c0009t0006a0009c0010t0001a0011c0016t0010others(4): Show | a0008c0009t0006g0038a0008c0009t0006g0039a0008c0009t0006g0117others(12): Show | 17 | 379 | 0.0449 | 0 | c.553 others(3): Show |
p.Arg others(6): Show |
CLEC18A | ENSG00000157322.18 | transcript | ENST00000288040.11 | protein_coding | 4/12 | 586/1749 | 553/1341 | 185/446 | chr16 | TogoVar | ||
CLEC18A_chr16_69946334_69968986 | 69960954 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0163 | 1 | 379 | 0.0026 | 0 | c.984 others(5): Show |
CLEC18A | ENSG00000157322.18 | transcript | ENST00000288040.11 | protein_coding | 8/11 | chr16 | TogoVar | ||||||
CLEC18A_chr16_69946334_69968986 | 69961719 | A | G | splice_region_variant others(1): Show |
LOW | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 379 | 0.0026 | 0 | c.111 others(6): Show |
CLEC18A | ENSG00000157322.18 | transcript | ENST00000288040.11 | protein_coding | 9/11 | chr16 | TogoVar | ||||||
CLEC18B_chr16_74403631_74426478 | 74409644 | G | C | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00733.hp2 HG01255.hp2 others(10): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001a0001c0005t0004 | a0001c0002t0001g0090a0001c0002t0001g0091a0001c0005t0001g0008others(5): Show | 13 | 287 | 0.0453 | 0 | c.121 others(6): Show |
CLEC18B | ENSG00000140839.13 | transcript | ENST00000682950.1 | protein_coding | 10/11 | chr16 | TogoVar | ||||||
CLEC18B_chr16_74403631_74426478 | 74410639 | C | T | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG01167.hp2 HG01257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0064others(5): Show | 8 | 287 | 0.0279 | 0 | c.111 others(6): Show |
CLEC18B | ENSG00000140839.13 | transcript | ENST00000682950.1 | protein_coding | 9/11 | chr16 | TogoVar | ||||||
CLEC18B_chr16_74403631_74426478 | 74410640 | G | A | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00597.hp1 HG00642.hp2 others(103): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(46): Show | 106 | 287 | 0.3693 | 0 | c.111 others(6): Show |
CLEC18B | ENSG00000140839.13 | transcript | ENST00000682950.1 | protein_coding | 9/11 | chr16 | TogoVar | ||||||
CLEC18B_chr16_74403631_74426478 | 74412146 | G | C | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00642.hp2 HG00673.hp1 others(101): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(43): Show | 104 | 287 | 0.3624 | 0 | c.877 others(5): Show |
CLEC18B | ENSG00000140839.13 | transcript | ENST00000682950.1 | protein_coding | 7/11 | chr16 | TogoVar |