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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHST8_chr19_33616953_33778506 | 33695821 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0234 | 1 | 254 | 0.0039 | 15 | c.130 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757522 | G | GAGAAGAA others(8): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 254 | 0.0039 | 15 | c.131 others(34): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST9_chr18_26901481_27190308 | 27053130 | G | GGAAGAAG others(8): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01891.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0230a0001c0001t0002g0163a0001c0001t0002g0165others(8): Show | 11 | 262 | 0.0420 | 15 | c.122 others(32): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053130 | G | GGAAGAAG others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02809.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0016a0001c0001t0017others(2): Show | a0001c0001t0010g0081a0001c0001t0016g0140a0001c0001t0017g0107others(4): Show | 7 | 262 | 0.0267 | 15 | c.122 others(32): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053218 | G | GGAAGAAG others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01167.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(4): Show | a0001c0001t0002g0150a0001c0001t0005g0204a0001c0001t0010g0022others(5): Show | 8 | 262 | 0.0305 | 15 | c.122 others(32): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053256 | A | AAGAAGAA others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01168.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0054a0001c0001t0001g0221a0001c0001t0002g0163others(4): Show | 7 | 262 | 0.0267 | 15 | c.122 others(32): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
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 | a0001c0001t0001g0037a0001c0001t0001g0048a0001c0001t0015g0216others(2): Show | 5 | 262 | 0.0191 | 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 | a0001c0001t0086g0082a0001c0001t0087g0257 | 2 | 262 | 0.0076 | 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 | a0001c0005t0043 | a0001c0005t0043g0061 | 1 | 422 | 0.0024 | 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 | 276 | 0.0036 | 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 | 276 | 0.0036 | 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 | 276 | 0.0036 | 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 | a0001c0001t0004g0003a0001c0001t0004g0033a0001c0001t0004g0064others(4): Show | 15 | 392 | 0.0383 | 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 | a0001c0001t0001g0026 | 2 | 338 | 0.0059 | 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 | a0001c0003t0005 | a0001c0003t0005g0033 | 1 | 416 | 0.0024 | 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 | a0001c0001t0001g0015a0001c0001t0001g0163a0001c0001t0001g0180others(6): Show | 11 | 390 | 0.0282 | 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 | a0002c0002t0004g0037 | 1 | 344 | 0.0029 | 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 | a0001c0001t0001g0177 | 1 | 344 | 0.0029 | 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 | a0001c0001t0001g0002a0001c0001t0001g0022a0001c0001t0001g0030others(3): Show | 8 | 374 | 0.0214 | 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 | a0001c0001t0001g0003a0001c0001t0001g0048a0001c0001t0002g0005others(5): Show | 9 | 374 | 0.0241 | 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 | a0001c0012t0017g0023a0002c0024t0015g0001a0002c0024t0063g0001others(2): Show | 5 | 392 | 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 | a0002c0003t0001g0119 | 1 | 420 | 0.0024 | 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 | a0001c0001t0004g0325 | 1 | 372 | 0.0027 | 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 |
a0002a0018 | a0002c0002a0018c0034 | a0002c0002t0001a0018c0034t0002 | a0002c0002t0001g0082a0018c0034t0002g0044 | 3 | 450 | 0.0067 | 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 | a0001c0001t0003g0127a0001c0001t0003g0128 | 2 | 386 | 0.0052 | 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 | a0001c0001t0042 | a0001c0001t0042g0122 | 1 | 354 | 0.0028 | 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 | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(2): Show | 5 | 236 | 0.0212 | 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 | 236 | 0.0042 | 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 | a0002c0004t0003g0044a0002c0004t0011g0056 | 2 | 236 | 0.0085 | 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 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(13): Show | 16 | 236 | 0.0678 | 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 | a0001c0001t0026g0233a0001c0002t0001g0070a0001c0002t0002g0074others(17): Show | 20 | 236 | 0.0848 | 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 | a0001c0002t0002g0088a0001c0002t0002g0089 | 2 | 236 | 0.0085 | 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 | a0001c0007t0001g0078a0001c0007t0001g0119a0002c0002t0001g0244others(4): Show | 7 | 380 | 0.0184 | 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 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 | 1 | 418 | 0.0024 | 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 | a0001c0001t0002g0260a0001c0001t0002g0268 | 2 | 356 | 0.0056 | 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 | a0001c0001t0001g0076a0001c0004t0001g0042a0001c0004t0001g0043 | 3 | 392 | 0.0077 | 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 | a0001c0001t0002g0101a0001c0001t0002g0105a0001c0001t0002g0106others(25): Show | 28 | 214 | 0.1308 | 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 | a0001c0001t0034g0118 | 1 | 214 | 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 | a0001c0001t0002g0101a0001c0001t0002g0105a0001c0001t0002g0106others(25): Show | 28 | 214 | 0.1308 | 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 | 214 | 0.0047 | 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 | 214 | 0.0047 | 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 | a0001c0001t0003g0043a0001c0001t0003g0045a0001c0001t0003g0046 | 3 | 278 | 0.0108 | 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 | a0001c0001t0001g0167a0001c0001t0001g0231a0001c0001t0017g0271others(3): Show | 6 | 278 | 0.0216 | 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 | a0001c0001t0002g0222a0001c0001t0002g0243a0001c0001t0002g0244others(5): Show | 8 | 278 | 0.0288 | 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 | a0001c0001t0001g0021a0001c0001t0001g0181a0001c0001t0001g0185others(7): Show | 10 | 364 | 0.0275 | 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(133): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0001c0015others(4): Show | a0001c0001t0001a0001c0012t0001a0001c0015t0001others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(130): Show | 136 | 364 | 0.3736 | 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 | a0001c0001t0001g0017 | 1 | 364 | 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 | a0001c0001t0001a0001c0001t0003a0001c0001t0030 | a0001c0001t0001g0249a0001c0001t0001g0253a0001c0001t0001g0254others(2): Show | 5 | 264 | 0.0189 | 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 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0196 | 1 | 264 | 0.0038 | 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 | a0001c0001t0002g0076a0001c0001t0002g0082a0001c0001t0002g0083others(1): Show | 4 | 264 | 0.0152 | 15 | c.-11 others(32): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar |