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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHST9_chr18_26901481_27190308 | 27053256 | A | AAGAAGAA others(8): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01978.hp2 HG01993.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0021others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0015g0216 others(2): Show |
5 | 171 | 0.0292 | 15 | c.122 others(32): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27141591 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0086a0001c0001t0087 | a0001c0001t0086g0082 a0001c0001t0087g0257 |
2 | 71 | 0.0282 | 15 | c.121 others(32): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
CHSY1_chr15_101170727_101257048 | 101251479 | G | GGCCGCCG others(8): Show |
5_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0005 | a0001c0005t0047 | a0001c0005t0047g0224 | 1 | 264 | 0.0038 | 15 | c.-24 others(22): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/3 | 24 | chr15 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130020462 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0248 | 1 | 266 | 0.0038 | 15 | c.108 others(38): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130178253 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0121 | 1 | 76 | 0.0132 | 15 | c.108 others(34): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130178253 | A | ATATTTTT others(8): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0030 | 1 | 76 | 0.0132 | 15 | c.108 others(34): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHURC1_chr14_64909455_64940368 | 64923273 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01928.hp2 HG02027.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0026a0001c0001t0027 | a0001c0001t0004g0004 a0001c0001t0004g0033 a0001c0001t0004g0062 others(4): Show |
15 | 288 | 0.0521 | 15 | c.40- others(28): Show |
CHURC1 | ENSG00000258289.10 | transcript | ENST00000549115.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CIAO2A_chr15_64067565_64098838 | 64077297 | C | CAACAAAA others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 2 | 180 | 0.0111 | 15 | c.340 others(32): Show |
CIAO2A | ENSG00000166797.11 | transcript | ENST00000300030.8 | protein_coding | 3/4 | chr15 | TogoVar | |||||||
CIART_chr1_150277554_150292093 | 150284003 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0033 | 1 | 354 | 0.0028 | 15 | c.442 others(30): Show |
CIART | ENSG00000159208.16 | transcript | ENST00000290363.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CIB2_chr15_78099606_78136445 | 78117246 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0163 a0001c0001t0001g0180 others(6): Show |
11 | 66 | 0.1667 | 15 | c.87- others(30): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26589081 | T | TTCTTCTT others(8): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0042 | 1 | 325 | 0.0031 | 15 | c.329 others(32): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26589108 | C | CTCTTCTT others(8): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 59 | 0.0169 | 15 | c.329 others(32): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93695813 | G | GCAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01099.hp2 HG01109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0023 others(2): Show |
8 | 126 | 0.0635 | 15 | c.-48 others(26): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 4736 | chr8 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93696959 | A | ATATATTA others(8): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02630.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0004others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0051 a0001c0001t0002g0005 others(5): Show |
9 | 169 | 0.0533 | 15 | c.-36 others(26): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 3590 | chr8 | TogoVar | |||||||
CIITA_chr16_10872202_10941394 | 10897789 | T | TATCATTA others(8): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02965.hp2 HG03041.hp1 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0012a0002c0024a0005c0016others(1): Show | a0001c0012t0017a0002c0024t0015a0002c0024t0063others(2): Show | a0001c0012t0017g0023 a0002c0024t0015g0001 a0002c0024t0063g0001 others(2): Show |
5 | 390 | 0.0128 | 15 | c.296 others(30): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CINP_chr14_102343282_102367890 | 102359227 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 1 | 159 | 0.0063 | 15 | c.176 others(30): Show |
CINP | ENSG00000100865.15 | transcript | ENST00000216756.11 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108553894 | T | TACAAAAA others(8): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0313 | 1 | 117 | 0.0085 | 15 | c.232 others(32): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 18/20 | chr3 | TogoVar | |||||||
CIROP_chr14_23094062_23109989 | 23103567 | T | TAAAACAA others(8): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02818.hp2 HG03471.hp2 |
a0002a0013 | a0002c0002a0013c0034 | a0002c0002t0001a0013c0034t0002 | a0002c0002t0001g0082 a0013c0034t0002g0044 |
3 | 39 | 0.0769 | 15 | c.604 others(28): Show |
CIROP | ENSG00000283654.3 | transcript | ENST00000637218.2 | protein_coding | 4/15 | chr14 | TogoVar | |||||||
CISD1_chr10_58264162_58294586 | 58271043 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 a0001c0001t0003g0128 |
2 | 202 | 0.0099 | 15 | c.31+ others(30): Show |
CISD1 | ENSG00000122873.12 | transcript | ENST00000333926.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CISD2_chr4_102863992_102897807 | 102890840 | T | TAAAAAAA others(8): Show |
3_prime_UTR_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0121 | 1 | 128 | 0.0078 | 15 | c.*34 others(26): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 3/3 | 3424 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CIT_chr12_119680791_119882320 | 119717834 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02723.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0021 a0001c0005t0008g0022 a0001c0005t0008g0085 others(2): Show |
5 | 219 | 0.0228 | 15 | c.416 others(32): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119726035 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 234 | 0.0043 | 15 | c.359 others(34): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119731840 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 |
a0002 | a0002c0004 | a0002c0004t0003a0002c0004t0011 | a0002c0004t0003g0044 a0002c0004t0011g0056 |
2 | 221 | 0.0090 | 15 | c.335 others(34): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119745374 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG01106.hp1 others(13): Show |
a0001 | a0001c0001a0001c0015a0001c0031 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(13): Show |
16 | 22 | 0.7273 | 15 | c.290 others(34): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119829344 | A | AAGAAGAG others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01515.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0026a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0026g0233 a0001c0002t0001g0070 a0001c0002t0002g0074 others(17): Show |
20 | 42 | 0.4762 | 15 | c.753 others(32): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 7/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119862808 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02523.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0088 a0001c0002t0002g0089 |
2 | 73 | 0.0274 | 15 | c.239 others(32): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | TogoVar | |||||||
CIZ1_chr9_128161065_128196572 | 128161087 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02280.hp1 others(4): Show |
a0001a0002a0003 | a0001c0007a0002c0002a0003c0005 | a0001c0007t0001a0002c0002t0001a0003c0005t0001 | a0001c0007t0001g0078 a0001c0007t0001g0113 a0002c0002t0001g0234 others(4): Show |
7 | 34 | 0.2059 | 15 | c.*51 others(26): Show |
CIZ1 | ENSG00000148337.22 | transcript | ENST00000372938.10 | protein_coding | 4977 | chr9 | TogoVar | |||||||
CKAP4_chr12_106232881_106253020 | 106237526 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 136 | 0.0074 | 15 | c.*14 others(26): Show |
CKAP4 | ENSG00000136026.14 | transcript | ENST00000378026.5 | protein_coding | 354 | chr12 | TogoVar | |||||||
CKMT2_chr5_81228322_81271398 | 81250940 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 a0001c0001t0002g0248 |
2 | 85 | 0.0235 | 15 | c.-20 others(30): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
CKM_chr19_45301413_45327875 | 45320890 | C | CTATTATT others(8): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03486.hp1 NA18962.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0076 a0001c0004t0001g0042 a0001c0004t0001g0043 |
3 | 247 | 0.0121 | 15 | c.-18 others(32): Show |
CKM | ENSG00000104879.5 | transcript | ENST00000221476.4 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121363719 | C | CAACACAG others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(25): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0034others(5): Show | a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0107 others(25): Show |
28 | 212 | 0.1321 | 15 | c.414 others(32): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 37/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121478630 | T | TACACACA others(8): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0119 | 1 | 212 | 0.0047 | 15 | c.713 others(32): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121478665 | C | CCACACAC others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(25): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0034others(6): Show | a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0107 others(25): Show |
28 | 119 | 0.2353 | 15 | c.713 others(32): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121517858 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0137 | 1 | 16 | 0.0625 | 15 | c.547 others(32): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 6/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121636338 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0137 | 1 | 90 | 0.0111 | 15 | c.-28 others(36): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33568553 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18946.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0046 |
3 | 123 | 0.0244 | 15 | c.276 others(34): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 26/38 | chr3 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33667406 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01255.hp1 HG02698.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0017a0001c0005t0008 | a0001c0001t0001g0148 a0001c0001t0001g0225 a0001c0001t0017g0271 others(3): Show |
6 | 103 | 0.0583 | 15 | c.645 others(32): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 6/38 | chr3 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33713012 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01934.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 a0001c0001t0002g0238 a0001c0001t0002g0239 others(5): Show |
8 | 116 | 0.0690 | 15 | c.195 others(32): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 1/38 | chr3 | TogoVar | |||||||
CLASRP_chr19_45034045_45075956 | 45063436 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01243.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0186 a0001c0001t0001g0190 others(7): Show |
10 | 96 | 0.1042 | 15 | c.906 others(30): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLASRP_chr19_45034045_45075956 | 45072769 | G | GAGGCTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(132): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0001c0015others(4): Show | a0001c0001t0001a0001c0012t0001a0001c0015t0001others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(129): Show |
135 | 362 | 0.3729 | 15 | c.*19 others(26): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 1814 | chr19 | TogoVar | |||||||
CLASRP_chr19_45034045_45075956 | 45073343 | G | GAGATGGG others(8): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 362 | 0.0028 | 15 | c.*24 others(26): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 2388 | chr19 | TogoVar | |||||||
CLCN4_chrX_10151975_10242660 | 10153116 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 NA18970.hp1 NA18981.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0028 | a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 others(2): Show |
5 | 238 | 0.0210 | 15 | c.-42 others(26): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 3858 | chrX | TogoVar | |||||||
CLCN4_chrX_10151975_10242660 | 10153118 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 184 | 0.0054 | 15 | c.-42 others(26): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 3856 | chrX | TogoVar | |||||||
CLCN4_chrX_10151975_10242660 | 10175357 | T | TTGGACCA others(8): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01169.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0002g0083 others(1): Show |
4 | 262 | 0.0153 | 15 | c.-11 others(32): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50066202 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0017 | 1 | 142 | 0.0070 | 15 | c.164 others(32): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLDN16_chr3_190383163_190417138 | 190392059 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01978.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0073 a0001c0001t0004g0078 a0001c0001t0014g0074 |
3 | 359 | 0.0084 | 15 | c.114 others(32): Show |
CLDN16 | ENSG00000113946.4 | transcript | ENST00000264734.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLDN16_chr3_190383163_190417138 | 190413357 | T | TATATATA others(8): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(123): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0046 others(77): Show |
126 | 436 | 0.2890 | 15 | c.*33 others(26): Show |
CLDN16 | ENSG00000113946.4 | transcript | ENST00000264734.3 | protein_coding | 1220 | chr3 | TogoVar | |||||||
CLDN19_chr1_42728093_42745236 | 42729447 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG03492.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 279 | 0.0143 | 15 | c.*56 others(26): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 3645 | chr1 | TogoVar | |||||||
CLDN19_chr1_42728093_42745236 | 42729449 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01884.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 104 | 0.0481 | 15 | c.*56 others(26): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 3643 | chr1 | TogoVar | |||||||
CLDN19_chr1_42728093_42745236 | 42729451 | A | AAATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 7 | 0.1429 | 15 | c.*56 others(26): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 3641 | chr1 | TogoVar |