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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHST15_chr10_124002668_124098598 | 124044219 | AGGGAATA others(10): Show |
A | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 390 | 0.0026 | -17 | c.886 others(32): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 3/7 | chr10 | TogoVar | |||||||
CHST3_chr10_71959395_72018558 | 71997413 | GTCACCTC others(10): Show |
G | intron_variant | MODIFIER | HG03453.hp1 NA18522.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0031a0002c0002t0016 | a0001c0001t0031g0044 a0001c0001t0031g0045 a0002c0002t0016g0043 |
3 | 370 | 0.0081 | -17 | c.-10 others(36): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75480935 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0196 | 1 | 370 | 0.0027 | -17 | c.-17 others(32): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27068416 | ACTTTTGT others(10): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0029 | a0001c0001t0003g0084 a0001c0001t0029g0021 |
2 | 260 | 0.0077 | -17 | c.122 others(36): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 129929467 | GACATGGG others(10): Show |
G | intron_variant | MODIFIER | HG00408.hp2 NA18939.hp2 NA18945.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0022 a0001c0008t0001g0033 a0001c0008t0001g0034 |
3 | 276 | 0.0109 | -17 | c.108 others(38): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130020440 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0002c0005t0001 | a0001c0001t0002g0152 a0002c0005t0001g0013 |
2 | 274 | 0.0073 | -17 | c.108 others(40): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130020442 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0244 | 1 | 246 | 0.0041 | -17 | c.108 others(40): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130020444 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0256 | 1 | 265 | 0.0038 | -17 | c.108 others(40): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130020447 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02132.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 a0001c0001t0002g0204 |
2 | 240 | 0.0083 | -17 | c.108 others(40): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130020449 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 248 | 0.0040 | -17 | c.108 others(40): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CIDEC_chr3_9861714_9885253 | 9883168 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01071.hp2 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0009 a0001c0003t0001g0089 a0001c0003t0001g0131 others(9): Show |
13 | 32 | 0.4063 | -17 | c.-31 others(28): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 2916 | chr3 | TogoVar | |||||||
CISD2_chr4_102863992_102897807 | 102879900 | ATAAGGTC others(10): Show |
A | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057 | 1 | 352 | 0.0028 | -17 | c.104 others(34): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CISH_chr3_50601489_50616774 | 50602096 | ACACACAC others(10): Show |
A | downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 358 | 0.0028 | -17 | c.*54 others(28): Show |
CISH | ENSG00000114737.16 | transcript | ENST00000348721.4 | protein_coding | 4392 | chr3 | TogoVar | |||||||
CKAP4_chr12_106232881_106253020 | 106241021 | AGGTTGCC others(10): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02145.hp1 others(7): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0005 | a0002c0001t0001g0017 a0002c0001t0001g0028 a0002c0001t0001g0138 others(2): Show |
10 | 416 | 0.0240 | -17 | c.484 others(32): Show |
CKAP4 | ENSG00000136026.14 | transcript | ENST00000378026.5 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121555988 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0050 | a0001c0002t0050g0004 | 1 | 26 | 0.0385 | -17 | c.196 others(36): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33715847 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 46 | 0.0217 | -17 | c.195 others(34): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 1/38 | chr3 | TogoVar | |||||||
CLCN1_chr7_143311111_143357083 | 143352961 | CTGCTCTA others(10): Show |
C | downstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 412 | 0.0024 | -17 | c.*99 others(27): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 879 | chr7 | TogoVar | |||||||
CLCN4_chrX_10151975_10242660 | 10178038 | ATACTGCA others(10): Show |
A | intron_variant | MODIFIER | HG01928.hp1 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0024 a0001c0001t0003g0020 |
2 | 262 | 0.0076 | -17 | c.-11 others(34): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10239513 | CTTTTTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 64 | 0.0156 | -17 | c.*59 others(28): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 1854 | chrX | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 49966603 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp1 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0070 others(1): Show |
4 | 168 | 0.0238 | -17 | c.16+ others(34): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50077812 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0122 | 1 | 38 | 0.0263 | -17 | c.603 others(34): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLDN16_chr3_190383163_190417138 | 190411501 | TACCTGAA others(10): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01891.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0011 a0001c0001t0007g0163 |
5 | 436 | 0.0115 | -17 | c.*14 others(28): Show |
CLDN16 | ENSG00000113946.4 | transcript | ENST00000264734.3 | protein_coding | 5/5 | 1485 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLDN34_chrX_9962358_9973352 | 9969237 | CCTTCATC others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0000 | 1 | 328 | 0.0030 | -17 | c.*12 others(28): Show |
CLDN34 | ENSG00000234469.4 | transcript | ENST00000445307.4 | protein_coding | 886 | chrX | TogoVar | |||||||
CLDN4_chr7_73825996_73837690 | 73831717 | CCTGCTGC others(10): Show |
C | frameshift_variant | HIGH | HG01109.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0000 | 1 | 370 | 0.0027 | -17 | c.517 others(24): Show |
p.Leu others(5): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 1/1 | 723/1695 | 517/630 | 173/209 | chr7 | TogoVar | |||
CLDN4_chr7_73825996_73837690 | 73834159 | CAATTTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 370 | 0.0027 | -17 | c.*23 others(28): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 1470 | chr7 | TogoVar | |||||||
CLDN4_chr7_73825996_73837690 | 73835206 | CCCTCTCC others(10): Show |
C | downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 370 | 0.0027 | -17 | c.*33 others(28): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 2517 | chr7 | TogoVar | |||||||
CLEC10A_chr17_7069537_7085251 | 7070533 | AAAGGAAA others(10): Show |
A | downstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0111 | 1 | 456 | 0.0022 | -17 | c.*45 others(28): Show |
CLEC10A | ENSG00000132514.14 | transcript | ENST00000416562.7 | protein_coding | 4003 | chr17 | TogoVar | |||||||
CLEC10A_chr17_7069537_7085251 | 7070591 | AAAAGAAA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01981.hp2 HG02922.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0007 a0002c0001t0001g0001 |
2 | 446 | 0.0045 | -17 | c.*44 others(28): Show |
CLEC10A | ENSG00000132514.14 | transcript | ENST00000416562.7 | protein_coding | 3945 | chr17 | TogoVar | |||||||
CLEC12A_chr12_9966409_9990595 | 9983639 | TCAACTGT others(10): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0073 |
3 | 438 | 0.0068 | -17 | c.642 others(34): Show |
CLEC12A | ENSG00000172322.14 | transcript | ENST00000304361.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLEC16A_chr16_10939564_11187186 | 11077963 | ACGTGTGT others(10): Show |
A | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0247 | 1 | 266 | 0.0038 | -17 | c.211 others(38): Show |
CLEC16A | ENSG00000038532.17 | transcript | ENST00000409790.6 | protein_coding | 19/23 | chr16 | TogoVar | |||||||
CLEC1B_chr12_9988075_10004121 | 9993429 | GTTGAGAA others(10): Show |
G | intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 460 | 0.0022 | -17 | c.546 others(32): Show |
CLEC1B | ENSG00000165682.15 | transcript | ENST00000298527.11 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
CLEC4C_chr12_7724383_7752375 | 7750836 | ACAAACAA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 388 | 0.0026 | -17 | c.-35 others(28): Show |
CLEC4C | ENSG00000198178.11 | transcript | ENST00000360345.8 | protein_coding | 3462 | chr12 | TogoVar | |||||||
CLEC4D_chr12_8508503_8527366 | 8510597 | GTATGAAA others(10): Show |
G | upstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 2 | 400 | 0.0050 | -17 | c.-31 others(28): Show |
CLEC4D | ENSG00000166527.8 | transcript | ENST00000299665.3 | protein_coding | 2905 | chr12 | TogoVar | |||||||
CLEC4D_chr12_8508503_8527366 | 8510987 | ATACTTTA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0024 | 1 | 400 | 0.0025 | -17 | c.-27 others(28): Show |
CLEC4D | ENSG00000166527.8 | transcript | ENST00000299665.3 | protein_coding | 2515 | chr12 | TogoVar | |||||||
CLHC1_chr2_55167547_55237293 | 55217551 | AAATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0003 | 2 | 372 | 0.0054 | -17 | c.365 others(32): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
CLIC1_chr6_31725599_31741530 | 31739970 | GTGCGCGC others(10): Show |
G | upstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 394 | 0.0025 | -17 | c.-36 others(28): Show |
CLIC1 | ENSG00000213719.8 | transcript | ENST00000375784.8 | protein_coding | 3441 | chr6 | TogoVar | |||||||
CLIC3_chr9_136989608_137001568 | 137001013 | TGACCTCG others(10): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(275): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0008a0004c0004others(2): Show | a0001c0001t0001a0001c0008t0001a0004c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(7): Show |
278 | 394 | 0.7056 | -17 | c.-44 others(28): Show |
CLIC3 | ENSG00000169583.13 | transcript | ENST00000494426.2 | protein_coding | 4446 | chr9 | TogoVar | |||||||
CLIC3_chr9_136989608_137001568 | 137001030 | AGACCTCG others(10): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 390 | 0.0026 | -17 | c.-45 others(28): Show |
CLIC3 | ENSG00000169583.13 | transcript | ENST00000494426.2 | protein_coding | 4463 | chr9 | TogoVar | |||||||
CLIC4_chr1_24740447_24849321 | 24766473 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015 | a0001c0001t0014g0005 a0001c0001t0015g0111 |
2 | 3 | 0.6667 | -17 | c.72+ others(34): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLIC4_chr1_24740447_24849321 | 24800223 | TCAGCCCC others(10): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 a0001c0001t0002g0216 |
2 | 340 | 0.0059 | -17 | c.182 others(34): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLIC6_chr21_34663994_34723223 | 34665288 | TTGGGAGG others(10): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0061 | a0002c0002t0061g0054 | 1 | 310 | 0.0032 | -17 | c.-41 others(28): Show |
CLIC6 | ENSG00000159212.13 | transcript | ENST00000349499.3 | protein_coding | 3705 | chr21 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122341762 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02145.hp2 NA18522.hp1 |
a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0233 a0001c0005t0017g0234 |
2 | 12 | 0.1667 | -17 | c.150 others(32): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 10/25 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122387569 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 a0001c0001t0001g0218 |
2 | 232 | 0.0086 | -17 | c.-10 others(36): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 1/25 | chr12 | TogoVar | |||||||
CLIP2_chr7_74284407_74410935 | 74390164 | AGAAAGAA others(10): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03831.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0007 | a0001c0002t0001g0091 a0001c0007t0007g0013 |
2 | 178 | 0.0112 | -17 | c.272 others(34): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 13/16 | chr7 | TogoVar | |||||||
CLIP3_chr19_36009660_36037873 | 36031008 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01109.hp1 others(32): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(1): Show | a0001c0001t0003g0008 a0001c0001t0003g0023 a0001c0001t0003g0024 others(23): Show |
35 | 223 | 0.1570 | -17 | c.166 others(34): Show |
CLIP3 | ENSG00000105270.15 | transcript | ENST00000360535.9 | protein_coding | 2/13 | chr19 | TogoVar | |||||||
CLN5_chr13_76987081_77010117 | 76990595 | TCTACTGT others(10): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01346.hp2 HG01928.hp1 others(30): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0017a0002c0003t0034others(1): Show | a0002c0003t0003g0004 a0002c0003t0003g0014 a0002c0003t0003g0036 others(4): Show |
33 | 428 | 0.0771 | -17 | c.-15 others(28): Show |
CLN5 | ENSG00000102805.16 | transcript | ENST00000377453.9 | protein_coding | 1485 | chr13 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1763392 | GCGCCGCG others(10): Show |
G | upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 374 | 0.0027 | -17 | c.-61 others(26): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 396 | chr8 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10610033 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 15 | 0.0667 | -17 | c.12- others(34): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | |||||||
CLPSL2_chr6_35771598_35784552 | 35775015 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01496.hp2 HG02683.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0037 |
4 | 225 | 0.0178 | -17 | c.-16 others(28): Show |
CLPSL2 | ENSG00000196748.10 | transcript | ENST00000403376.4 | protein_coding | 1582 | chr6 | TogoVar | |||||||
CLPX_chr15_65143219_65190342 | 65145936 | AAAAATAT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 188 | 0.0053 | -17 | c.*48 others(28): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 2282 | chr15 | TogoVar |