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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRTAP16-1_chr17_41302700_41314309 | 41310330 | GAAGAAAG others(25): Show |
G | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01255.hp2 others(20): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0000 a0002c0005t0001g0000 |
23 | 368 | 0.0625 | -32 | c.-11 others(43): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1022 | chr17 | TogoVar | |||||||
KRTAP17-1_chr17_41309912_41320710 | 41310330 | GAAGAAAG others(25): Show |
G | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01255.hp1 others(19): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0002a0002c0002t0005a0003c0004t0001 | a0002c0002t0002g0000 a0002c0002t0005g0000 a0003c0004t0001g0000 |
22 | 362 | 0.0608 | -32 | c.*49 others(43): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4581 | chr17 | TogoVar | |||||||
KRTAP19-7_chr21_30555875_30566314 | 30562379 | ATATATAT others(25): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(92): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 95 | 419 | 0.2267 | -32 | c.-11 others(43): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 1066 | chr21 | TogoVar | |||||||
KRTAP4-1_chr17_41179100_41189911 | 41188773 | GTCCCAGC others(25): Show |
G | upstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 424 | 0.0024 | -32 | c.-39 others(43): Show |
KRTAP4-1 | ENSG00000198443.8 | transcript | ENST00000398472.2 | protein_coding | 3863 | chr17 | TogoVar | |||||||
KRTAP4-7_chr17_41079150_41090144 | 41088196 | CCTTCCTT others(25): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 440 | 0.0023 | -32 | c.*35 others(43): Show |
KRTAP4-7 | ENSG00000240871.7 | transcript | ENST00000391417.6 | protein_coding | 3053 | chr17 | TogoVar | |||||||
KRTAP5-10_chr11_71560563_71571735 | 71568568 | GCATGGTG others(25): Show |
G | downstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 466 | 0.0021 | -32 | c.*23 others(43): Show |
KRTAP5-10 | ENSG00000204572.10 | transcript | ENST00000398531.3 | protein_coding | 1834 | chr11 | TogoVar | |||||||
KRTAP9-3_chr17_41227449_41238454 | 41235836 | AAAGGAAG others(25): Show |
A | downstream_gene_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0005 | a0003c0005t0010 | a0003c0005t0010g0000 | 1 | 272 | 0.0037 | -32 | c.*28 others(43): Show |
KRTAP9-3 | ENSG00000204873.5 | transcript | ENST00000411528.4 | protein_coding | 2383 | chr17 | TogoVar | |||||||
KRTAP9-8_chr17_41232999_41244004 | 41235836 | AAAGGAAG others(25): Show |
A | upstream_gene_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 272 | 0.0037 | -32 | c.-22 others(43): Show |
KRTAP9-8 | ENSG00000187272.7 | transcript | ENST00000254072.7 | protein_coding | 2162 | chr17 | TogoVar | |||||||
KSR1_chr17_27451448_27631435 | 27629599 | CAACTCAC others(25): Show |
C | downstream_gene_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0017 | 1 | 244 | 0.0041 | -32 | c.*62 others(43): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 3165 | chr17 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117692449 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp1 NA18975.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0005a0001c0004t0006 | a0001c0003t0002g0146 a0001c0004t0005g0076 a0001c0004t0006g0173 |
3 | 9 | 0.3333 | -32 | c.987 others(51): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117794000 | ACACACAC others(25): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0183 a0001c0002t0015g0191 |
2 | 191 | 0.0105 | -32 | c.473 others(51): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117794039 | CCAACATG others(25): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0005 | a0001c0005t0050 | a0001c0005t0050g0036 | 1 | 194 | 0.0052 | -32 | c.473 others(51): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865308 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(107): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0038 others(103): Show |
110 | 297 | 0.3704 | -32 | c.-7+ others(49): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYNU_chr2_142872664_143060833 | 143042583 | GATATATA others(25): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0133a0001c0001t0188a0001c0001t0189others(1): Show | a0001c0001t0133g0148 a0001c0001t0188g0139 a0001c0001t0189g0006 others(1): Show |
4 | 30 | 0.1333 | -32 | c.*42 others(41): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 14/14 | 428 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
L3MBTL4_chr18_5949717_6419911 | 6071729 | GAAAGAAA others(25): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01192.hp1 HG02486.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0003g0011 a0001c0001t0003g0030 a0001c0001t0003g0031 others(3): Show |
6 | 92 | 0.0652 | -32 | c.144 others(51): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
LACTB2_chr8_70632266_70674185 | 70670244 | TGCCTGCC others(25): Show |
T | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0088 | 1 | 350 | 0.0029 | -32 | c.-11 others(43): Show |
LACTB2 | ENSG00000147592.9 | transcript | ENST00000276590.5 | protein_coding | 1060 | chr8 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128879505 | ATATATAT others(25): Show |
A | upstream_gene_variant | MODIFIER | HG02895.hp1 | a0027 | a0027c0053 | a0027c0053t0003 | a0027c0053t0003g0080 | 1 | 86 | 0.0116 | -32 | c.-37 others(43): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3632 | chr6 | TogoVar | |||||||
LAMA4_chr6_112102931_112259567 | 112241140 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | NA19090.hp1 | a0004 | a0004c0010 | a0004c0010t0012 | a0004c0010t0012g0177 | 1 | 186 | 0.0054 | -32 | c.195 others(51): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 2/38 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62321242 | GAGGGGTG others(25): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG02976.hp1 |
a0026 | a0026c0048a0026c0077 | a0026c0048t0001a0026c0077t0001 | a0026c0048t0001g0056 a0026c0077t0001g0017 |
2 | 182 | 0.0110 | -32 | c.649 others(49): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMP5_chr20_9509590_9535524 | 9532690 | ACATCTGA others(25): Show |
A | downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 446 | 0.0022 | -32 | c.*28 others(43): Show |
LAMP5 | ENSG00000125869.10 | transcript | ENST00000246070.3 | protein_coding | 2167 | chr20 | TogoVar | |||||||
LAP3_chr4_17572198_17612970 | 17577191 | CGCGGGCG others(25): Show |
C | 5_prime_UTR_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0005 | 1 | 8 | 0.1250 | -32 | c.-27 others(41): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 1/13 | 243 | chr4 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33556564 | GAGGCAGG others(25): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG00741.hp1 others(16): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0072 others(16): Show |
19 | 106 | 0.1792 | -32 | c.787 others(49): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33766913 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01517.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0026a0001c0002t0001 | a0001c0001t0026g0091 a0001c0002t0001g0041 |
2 | 10 | 0.2000 | -32 | c.-82 others(49): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33785123 | GCATATAT others(25): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00735.hp2 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0044 others(44): Show |
47 | 54 | 0.8704 | -32 | c.-82 others(51): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33825359 | AAAAGACA others(25): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG01070.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0031others(4): Show | a0001c0001t0002g0085 a0001c0001t0002g0096 a0001c0001t0003g0032 others(5): Show |
8 | 108 | 0.0741 | -32 | c.-82 others(51): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARP1_chr5_154750377_154822605 | 154757780 | TCCTTCCC others(25): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01123.hp2 others(32): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 others(30): Show |
35 | 267 | 0.1311 | -32 | c.436 others(49): Show |
LARP1 | ENSG00000155506.19 | transcript | ENST00000518297.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LARP4B_chr10_804497_936705 | 923302 | CTGAATGG others(25): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 286 | 0.0035 | -32 | c.-40 others(49): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 1/17 | chr10 | TogoVar | |||||||
LARS2_chr3_45383576_45554407 | 45415872 | TATATAGA others(25): Show |
T | intron_variant | MODIFIER | HG00609.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0148 a0001c0001t0014g0147 |
2 | 240 | 0.0083 | -32 | c.364 others(49): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LASP1NB_chr17_38920614_38934381 | 38933519 | TTGACATA others(25): Show |
T | downstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | -32 | c.*72 others(43): Show |
LASP1NB | ENSG00000263874.3 | transcript | ENST00000583195.3 | protein_coding | 4139 | chr17 | TogoVar | |||||||
LAT2_chr7_74205006_74234834 | 74214524 | AAATATAT others(25): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01106.hp1 others(21): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0092 others(20): Show |
24 | 340 | 0.0706 | -32 | c.-21 others(49): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LAT2_chr7_74205006_74234834 | 74214555 | TGAAAATA others(25): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG02280.hp1 NA18945.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0053 a0001c0001t0001g0055 |
4 | 332 | 0.0120 | -32 | c.-21 others(49): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20969697 | AATATATA others(25): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 HG03209.hp2 HG06807.hp1 others(1): Show |
a0004a0005 | a0004c0004a0005c0016 | a0004c0004t0019a0004c0004t0030a0005c0016t0014 | a0004c0004t0019g0028 a0004c0004t0019g0290 a0004c0004t0030g0293 others(1): Show |
4 | 197 | 0.0203 | -32 | c.*51 others(43): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3338 | chr13 | TogoVar | |||||||
LCE4A_chr1_152703160_152714434 | 152710006 | CTCTCTCT others(25): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(34): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0001 | a0001c0001t0001g0001 a0007c0009t0001g0001 |
37 | 406 | 0.0911 | -32 | c.*63 others(41): Show |
LCE4A | ENSG00000187170.6 | transcript | ENST00000368777.2 | protein_coding | 573 | chr1 | TogoVar | |||||||
LCLAT1_chr2_30442246_30649225 | 30607845 | CTGTGTGT others(25): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02280.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0354 a0001c0001t0008g0355 a0001c0001t0008g0356 others(6): Show |
9 | 10 | 0.9000 | -32 | c.629 others(51): Show |
LCLAT1 | ENSG00000172954.14 | transcript | ENST00000379509.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LCOR_chr10_96827298_97000956 | 96844090 | ACCCTCCC others(25): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02717.hp1 others(6): Show |
a0004 | a0004c0005 | a0004c0005t0019a0004c0005t0032a0004c0005t0033others(6): Show | a0004c0005t0019g0171 a0004c0005t0032g0170 a0004c0005t0033g0124 others(6): Show |
9 | 277 | 0.0325 | -32 | c.-33 others(53): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LCP2_chr5_170241233_170302777 | 170290970 | AAGAAAGA others(25): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01081.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(6): Show | a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0002t0001g0259 others(16): Show |
19 | 380 | 0.0500 | -32 | c.141 others(49): Show |
LCP2 | ENSG00000043462.13 | transcript | ENST00000046794.10 | protein_coding | 2/20 | chr5 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66566739 | TTTTCTTT others(25): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0216 | 1 | 129 | 0.0078 | -32 | c.-93 others(41): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 742 | chr15 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568865 | CACACACA others(25): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0007g0060 |
3 | 341 | 0.0088 | -32 | c.-30 others(43): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2868 | chr15 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568867 | CACACACA others(25): Show |
C | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0207 |
3 | 379 | 0.0079 | -32 | c.-30 others(43): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2870 | chr15 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568869 | CACACACA others(25): Show |
C | upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 370 | 0.0027 | -32 | c.-30 others(43): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2872 | chr15 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568873 | CACATATA others(25): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0105 |
2 | 379 | 0.0053 | -32 | c.-30 others(43): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2876 | chr15 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135835482 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0185 | 1 | 52 | 0.0192 | -32 | c.640 others(49): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LDB2_chr4_16496541_16903645 | 16519372 | ACAGCTAT others(25): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 160 | 0.0063 | -32 | c.616 others(49): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 5/7 | chr4 | TogoVar | |||||||
LDB2_chr4_16496541_16903645 | 16755520 | TGTGTATG others(25): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0061 others(23): Show |
26 | 158 | 0.1646 | -32 | c.235 others(49): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
LDB2_chr4_16496541_16903645 | 16897914 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 160 | 0.0063 | -32 | c.132 others(47): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
LDHAL6A_chr11_18450856_18484601 | 18453586 | GTATATGT others(25): Show |
G | upstream_gene_variant | MODIFIER | HG02818.hp2 HG02895.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0033a0001c0001t0038others(3): Show | a0001c0001t0019g0034 a0001c0001t0019g0281 a0001c0001t0033g0034 others(5): Show |
8 | 417 | 0.0192 | -32 | c.-30 others(43): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 2269 | chr11 | TogoVar | |||||||
LDHAL6A_chr11_18450856_18484601 | 18455865 | CTCACACC others(25): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00735.hp1 others(70): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0001c0001t0008a0001c0001t0012others(22): Show | a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 others(61): Show |
73 | 101 | 0.7228 | -32 | c.-77 others(41): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 1/7 | 742 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LDHA_chr11_18389563_18413425 | 18400429 | CCACACAC others(25): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(202): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(131): Show |
205 | 216 | 0.9491 | -32 | c.245 others(47): Show |
LDHA | ENSG00000134333.15 | transcript | ENST00000422447.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LDHC_chr11_18407318_18457063 | 18453586 | GTATATGT others(25): Show |
G | downstream_gene_variant | MODIFIER | HG02818.hp1 HG02895.hp1 HG02896.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 a0002c0002t0002g0236 a0002c0002t0002g0249 others(3): Show |
8 | 345 | 0.0232 | -32 | c.*24 others(43): Show |
LDHC | ENSG00000166796.12 | transcript | ENST00000541669.6 | protein_coding | 1524 | chr11 | TogoVar | |||||||
LDHC_chr11_18407318_18457063 | 18455865 | CTCACACC others(25): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00735.hp1 others(67): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0026 others(63): Show |
70 | 97 | 0.7216 | -32 | c.*47 others(43): Show |
LDHC | ENSG00000166796.12 | transcript | ENST00000541669.6 | protein_coding | 3803 | chr11 | TogoVar |