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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHRM5_chr15_33963497_34072458 | 34029517 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(71): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0071others(69): Show | 74 | 338 | 0.2189 | -9 | c.-40 others(30): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA7_chr15_32025515_32178018 | 32074637 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01891.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0012a0001c0001t0043a0001c0003t0001others(2): Show | a0001c0001t0012g0293a0001c0001t0043g0183a0001c0003t0001g0046others(2): Show | 5 | 307 | 0.0163 | -9 | c.196 others(28): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA7_chr15_32025515_32178018 | 32086837 | CAGACAGC others(2): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02257.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0008a0001c0001t0013a0001c0002t0005others(4): Show | a0001c0001t0008g0038a0001c0001t0013g0108a0001c0002t0005g0111others(5): Show | 8 | 307 | 0.0261 | -9 | c.196 others(28): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRND_chr2_232521160_232541664 | 232537673 | ACAAAGCT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02809.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033a0001c0001t0002g0093 | 4 | 438 | 0.0091 | -9 | c.*23 others(20): Show |
CHRND | ENSG00000135902.10 | transcript | ENST00000258385.8 | protein_coding | 1010 | chr2 | TogoVar | ||||||
CHRND_chr2_232521160_232541664 | 232541095 | CTATTATT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00621.hp2 others(49): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0018 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0006g0026a0001c0002t0001g0002others(11): Show | 52 | 438 | 0.1187 | -9 | c.*57 others(20): Show |
CHRND | ENSG00000135902.10 | transcript | ENST00000258385.8 | protein_coding | 4432 | chr2 | TogoVar | ||||||
CHRNG_chr2_232534692_232553115 | 232537673 | ACAAAGCT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02809.hp2 HG02818.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0010a0002c0003t0012others(1): Show | a0002c0003t0001g0068a0002c0003t0010g0033a0002c0003t0012g0033others(1): Show | 4 | 434 | 0.0092 | -9 | c.-20 others(20): Show |
CHRNG | ENSG00000196811.13 | transcript | ENST00000651502.1 | protein_coding | 2018 | chr2 | TogoVar | ||||||
CHRNG_chr2_232534692_232553115 | 232541095 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00621.hp1 others(49): Show |
a0001a0005a0010 | a0001c0001a0005c0012a0010c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0074a0001c0001t0001g0076others(11): Show | 52 | 434 | 0.1198 | -9 | c.351 others(24): Show |
CHRNG | ENSG00000196811.13 | transcript | ENST00000651502.1 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104637302 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01891.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0019a0001c0001t0001g0060a0001c0001t0002g0101others(13): Show | 16 | 240 | 0.0667 | -9 | c.204 others(28): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104750428 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG03209.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015a0001c0001t0037others(1): Show | a0001c0001t0003g0230a0001c0001t0015g0061a0001c0001t0015g0128others(3): Show | 6 | 240 | 0.0250 | -9 | c.205 others(26): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2432141 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01361.hp1 HG02004.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0254a0002c0002t0001a0002c0002t0003others(17): Show | a0001c0001t0254g0048a0002c0002t0001g0279a0002c0002t0001g0281others(23): Show | 26 | 344 | 0.0756 | -9 | c.-77 others(24): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2434579 | TAAAAAAA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01070.hp1 HG02056.hp2 HG02074.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0134a0001c0001t0135a0001c0001t0220others(12): Show | a0001c0001t0134g0031a0001c0001t0135g0032a0001c0001t0220g0099others(18): Show | 21 | 344 | 0.0611 | -9 | c.*72 others(18): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 724 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CHST13_chr3_126519155_126548291 | 126539829 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp1 HG02970.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0027a0001c0001t0001g0083a0006c0008t0001g0011 | 6 | 364 | 0.0165 | -9 | c.181 others(26): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHST4_chr16_71521426_71543748 | 71542925 | GTATTATT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG01169.hp2 HG01257.hp2 HG01934.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0044others(4): Show | 7 | 418 | 0.0168 | -9 | c.*50 others(20): Show |
CHST4 | ENSG00000140835.10 | transcript | ENST00000539698.4 | protein_coding | 4178 | chr16 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33618415 | TTCTTCCT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02559.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0035a0001c0001t0001g0180others(10): Show | 13 | 254 | 0.0512 | -9 | c.-40 others(20): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3537 | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33618424 | GTCTTCTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01175.hp1 HG01255.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0085a0001c0001t0001g0090a0001c0001t0001g0100others(10): Show | 13 | 254 | 0.0512 | -9 | c.-40 others(20): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3528 | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33704400 | AGGGTCAC others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG01168.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0024others(36): Show | 39 | 254 | 0.1535 | -9 | c.130 others(28): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST9_chr18_26901481_27190308 | 26927720 | CTCAGGGA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(147): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(50): Show | a0001c0001t0001g0008a0001c0001t0001g0037a0001c0001t0001g0038others(147): Show | 150 | 262 | 0.5725 | -9 | c.241 others(28): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 5/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 26927721 | TCAGGGAT others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01256.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(7): Show | a0001c0001t0001g0086a0001c0001t0001g0240a0001c0001t0007g0009others(22): Show | 25 | 262 | 0.0954 | -9 | c.241 others(28): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 5/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053130 | GGAAGAAG others(2): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0024others(4): Show | a0001c0001t0004g0055a0001c0001t0004g0095a0001c0001t0009g0193others(5): Show | 8 | 262 | 0.0305 | -9 | c.122 others(26): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053259 | AAGGAGAA others(2): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02897.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0016others(2): Show | a0001c0001t0001g0240a0001c0001t0010g0158a0001c0001t0016g0190others(2): Show | 5 | 262 | 0.0191 | -9 | c.122 others(26): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101204435 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(214): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(47): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0017others(199): Show | 217 | 422 | 0.5142 | -9 | c.817 others(28): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130172316 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(196): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0008others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(26): Show | a0001c0001t0001g0231a0001c0001t0002g0117a0001c0001t0002g0131others(196): Show | 199 | 276 | 0.7210 | -9 | c.108 others(30): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHTF18_chr16_783620_803074 | 795557 | CGTGTGGC others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02622.hp1 others(6): Show |
a0003a0004a0032 | a0003c0017a0003c0067a0004c0021others(1): Show | a0003c0017t0001a0003c0067t0001a0004c0021t0001others(1): Show | a0003c0017t0001g0009a0003c0067t0001g0009a0004c0021t0001g0022others(2): Show | 9 | 428 | 0.0210 | -9 | c.217 others(26): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | chr16 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589051 | TTCTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01074.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0266others(6): Show | 10 | 344 | 0.0291 | -9 | c.329 others(26): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589057 | TTCCTCTT others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG03098.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0040a0001c0001t0001g0046a0001c0001t0001g0053others(3): Show | 6 | 344 | 0.0174 | -9 | c.329 others(26): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589063 | TTCCTCTT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG01070.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0141a0001c0001t0001g0145others(9): Show | 12 | 344 | 0.0349 | -9 | c.329 others(26): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589099 | TTCTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0060a0001c0001t0001g0166a0001c0001t0001g0305others(2): Show | 6 | 344 | 0.0174 | -9 | c.329 others(26): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26601232 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02976.hp2 NA18955.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0003a0002c0003t0002 | a0001c0001t0001g0182a0001c0001t0001g0183a0001c0001t0001g0184others(3): Show | 6 | 344 | 0.0174 | -9 | c.187 others(26): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIC_chr19_42264252_42300796 | 42284328 | CGCCCCGC others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02155.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0060 | 3 | 196 | 0.0153 | -9 | c.279 others(28): Show |
CIC | ENSG00000079432.9 | transcript | ENST00000681038.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CIDEC_chr3_9861714_9885253 | 9874518 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(214): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0010others(100): Show | 217 | 410 | 0.5293 | -9 | c.207 others(26): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
CINP_chr14_102343282_102367890 | 102363141 | GCCCCGAC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0128a0001c0001t0002g0007a0001c0002t0001g0005others(2): Show | 11 | 420 | 0.0262 | -9 | c.-29 others(18): Show |
CINP | ENSG00000100865.15 | transcript | ENST00000216756.11 | protein_coding | 252 | chr14 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108553121 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02922.hp1 others(4): Show |
a0001a0017 | a0001c0001a0017c0021 | a0001c0001t0005a0017c0021t0005 | a0001c0001t0005g0011a0001c0001t0005g0320a0001c0001t0005g0321others(3): Show | 7 | 372 | 0.0188 | -9 | c.240 others(26): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 19/20 | chr3 | TogoVar | ||||||
CIPC_chr14_77093258_77122287 | 77119264 | GCCTCAGC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00673.hp1 NA18939.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0011a0003c0004t0035 | a0003c0004t0011g0015a0003c0004t0011g0081a0003c0004t0035g0015 | 7 | 426 | 0.0164 | -9 | c.*49 others(20): Show |
CIPC | ENSG00000198894.8 | transcript | ENST00000361786.7 | protein_coding | 1978 | chr14 | TogoVar | ||||||
CIROP_chr14_23094062_23109989 | 23106194 | CCTCCCCC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03139.hp2 others(1): Show |
a0001a0003a0009 | a0001c0016a0003c0003a0009c0010 | a0001c0016t0001a0003c0003t0001a0009c0010t0003 | a0001c0016t0001g0020a0003c0003t0001g0017a0009c0010t0003g0012 | 4 | 450 | 0.0089 | -9 | c.-12 others(20): Show |
CIROP | ENSG00000283654.3 | transcript | ENST00000637218.2 | protein_coding | 1206 | chr14 | TogoVar | ||||||
CKAP2L_chr2_112731349_112769609 | 112749222 | AAGAGCTA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(158): Show |
a0001a0005a0007others(2): Show | a0001c0001a0001c0010a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(106): Show | 161 | 300 | 0.5367 | -9 | c.160 others(28): Show |
CKAP2L | ENSG00000169607.13 | transcript | ENST00000302450.11 | protein_coding | 5/8 | chr2 | TogoVar | ||||||
CKMT2_chr5_81228322_81271398 | 81254205 | CTTGTTGT others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021a0001c0001t0002g0043a0001c0001t0002g0044others(6): Show | 10 | 356 | 0.0281 | -9 | c.352 others(24): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CLASP1_chr2_121332776_121654462 | 121356949 | GAGATGCT others(2): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(87): Show |
a0001a0002a0004 | a0001c0002a0001c0006a0002c0003others(1): Show | a0001c0002t0005a0001c0002t0006a0001c0002t0008others(37): Show | a0001c0002t0005g0145a0001c0002t0005g0146a0001c0002t0005g0147others(87): Show | 90 | 214 | 0.4206 | -9 | c.426 others(28): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 38/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121478853 | CACCACAC others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01175.hp2 others(32): Show |
a0001a0004 | a0001c0002a0001c0006a0004c0004 | a0001c0002t0005a0001c0002t0009a0001c0002t0011others(20): Show | a0001c0002t0005g0145a0001c0002t0005g0146a0001c0002t0005g0147others(32): Show | 35 | 214 | 0.1636 | -9 | c.713 others(26): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121478900 | CCACACCA others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01243.hp1 others(25): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0006a0001c0002t0008a0001c0002t0011others(8): Show | a0001c0002t0006g0162a0001c0002t0006g0163a0001c0002t0006g0164others(25): Show | 28 | 214 | 0.1308 | -9 | c.713 others(26): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121518231 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(24): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0034others(4): Show | a0001c0001t0002g0101a0001c0001t0002g0105a0001c0001t0002g0106others(24): Show | 27 | 214 | 0.1262 | -9 | c.547 others(26): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 6/40 | chr2 | TogoVar | ||||||
CLBA1_chr14_104980788_105000516 | 104987606 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01516.hp2 HG02071.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0001t0006a0001c0002t0003others(1): Show | a0001c0001t0002g0011a0001c0001t0002g0044a0001c0001t0002g0050others(3): Show | 12 | 444 | 0.0270 | -9 | c.423 others(24): Show |
CLBA1 | ENSG00000140104.14 | transcript | ENST00000547315.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CLCN3_chr4_169615578_169728673 | 169701042 | CTCTGTAG others(2): Show |
C | intron_variant | MODIFIER | NA18982.hp1 NA18984.hp2 NA19066.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0013a0001c0003t0003g0023a0001c0003t0003g0024 | 3 | 288 | 0.0104 | -9 | c.156 others(28): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10153125 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01928.hp1 HG02004.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0024others(3): Show | 6 | 264 | 0.0227 | -9 | c.-42 others(20): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 3849 | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10154447 | AAATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01081.hp1 HG01123.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(22): Show | 26 | 264 | 0.0985 | -9 | c.-29 others(20): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2527 | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10154449 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp1 HG02647.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0051a0001c0002t0004g0045a0001c0002t0004g0046others(3): Show | 6 | 264 | 0.0227 | -9 | c.-29 others(20): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2525 | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10169777 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0048 | 1 | 264 | 0.0038 | -9 | c.-12 others(28): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10202638 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0061 | 1 | 264 | 0.0038 | -9 | c.556 others(26): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10204613 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02622.hp2 NA18973.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0016a0001c0002t0004g0031 | 2 | 264 | 0.0076 | -9 | c.556 others(26): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10239513 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0015 | a0001c0001t0002g0102a0001c0002t0015g0030 | 2 | 264 | 0.0076 | -9 | c.*59 others(20): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 1854 | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50023702 | TGTCTATA others(2): Show |
T | intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 175 | 0.0057 | -9 | c.17- others(26): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar |