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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KYAT1_chr9_128827942_128886950 | 128865308 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 326 | 0.0031 | -30 | c.-7+ others(47): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
L1TD1_chr1_62189849_62217328 | 62209972 | ACCTCAGG others(23): Show |
A | disruptive_inframe_deletion | MODERATE | HG00323.hp1 HG01109.hp1 HG01243.hp2 others(12): Show |
a0009a0010a0017others(1): Show | a0009c0012a0009c0029a0010c0011others(2): Show | a0009c0012t0013a0009c0012t0017a0009c0029t0013others(4): Show | a0009c0012t0013g0045a0009c0012t0013g0046a0009c0012t0013g0047others(11): Show | 15 | 414 | 0.0362 | -30 | c.121 others(39): Show |
p.Glu others(13): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 4/4 | 1495/3831 | 1218/2598 | 406/865 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
L3MBTL4_chr18_5949717_6419911 | 5958056 | GAGAAGGA others(23): Show |
G | intron_variant | MODIFIER | HG03579.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0020a0001c0001t0004g0076 | 2 | 94 | 0.0213 | -30 | c.167 others(49): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 18/18 | chr18 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 5958100 | GAAGAAGA others(23): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG01981.hp2 HG03195.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0002a0001c0003t0002a0004c0009t0002 | a0001c0001t0002g0006a0001c0001t0002g0033a0001c0001t0002g0067others(2): Show | 5 | 94 | 0.0532 | -30 | c.167 others(49): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 18/18 | chr18 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 5972862 | TAGAATAG others(23): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02897.hp2 HG02970.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0033a0001c0001t0002g0034a0001c0001t0004g0015others(6): Show | 9 | 94 | 0.0957 | -30 | c.144 others(49): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | ||||||
LACTB2_chr8_70632266_70674185 | 70672656 | GCGGTTGT others(23): Show |
G | upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 352 | 0.0028 | -30 | c.-35 others(41): Show |
LACTB2 | ENSG00000147592.9 | transcript | ENST00000276590.5 | protein_coding | 3472 | chr8 | TogoVar | ||||||
LAIR1_chr19_54346384_54369931 | 54349293 | AAGGGAGG others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00558.hp2 others(81): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0016a0001c0001t0028others(8): Show | a0001c0001t0003g0004a0001c0001t0003g0006a0001c0001t0003g0008others(29): Show | 84 | 462 | 0.1818 | -30 | c.*59 others(41): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 2090 | chr19 | TogoVar | ||||||
LAIR1_chr19_54346384_54369931 | 54349547 | ACAGATCC others(23): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0042 | 2 | 462 | 0.0043 | -30 | c.*56 others(41): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1836 | chr19 | TogoVar | ||||||
LAMA1_chr18_6936742_7122797 | 7021812 | ATAATATA others(23): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(46): Show |
a0001a0002a0003others(31): Show | a0001c0161a0002c0146a0003c0160others(42): Show | a0001c0161t0001a0002c0146t0002a0003c0160t0002others(43): Show | a0001c0161t0001g0155a0002c0146t0002g0102a0003c0160t0002g0039others(46): Show | 49 | 278 | 0.1763 | -30 | c.270 others(49): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 19/62 | chr18 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 128961318 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 |
a0002a0008 | a0002c0029a0008c0034 | a0002c0029t0002a0008c0034t0002 | a0002c0029t0002g0064a0008c0034t0002g0036 | 2 | 88 | 0.0227 | -30 | c.112 others(49): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129200196 | ATGTACAC others(23): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG03710.hp1 |
a0004a0013 | a0004c0041a0013c0069 | a0004c0041t0004a0013c0069t0004 | a0004c0041t0004g0059a0013c0069t0004g0068 | 2 | 88 | 0.0227 | -30 | c.178 others(49): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMC1_chr1_183018420_183150592 | 183150159 | CTCACACC others(23): Show |
C | downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0275 | 1 | 308 | 0.0033 | -30 | c.*73 others(41): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 4568 | chr1 | TogoVar | ||||||
LAMP1_chr13_113292239_113328672 | 113301636 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0314 | 1 | 354 | 0.0028 | -30 | c.61+ others(45): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
LAMP1_chr13_113292239_113328672 | 113301638 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0334 | 1 | 354 | 0.0028 | -30 | c.61+ others(45): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
LAMP1_chr13_113292239_113328672 | 113301640 | AAAAAATA others(23): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0333 | 1 | 354 | 0.0028 | -30 | c.61+ others(45): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
LAMP1_chr13_113292239_113328672 | 113301642 | AAAATATA others(23): Show |
A | intron_variant | MODIFIER | NA21309.hp1 NA21309.hp2 |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0017a0009c0013t0028 | a0001c0001t0017g0321a0009c0013t0028g0020 | 2 | 354 | 0.0057 | -30 | c.61+ others(45): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
LAMTOR3_chr4_99873336_99899427 | 99879931 | ACTACTAC others(23): Show |
A | 3_prime_UTR_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0071 | 1 | 384 | 0.0026 | -30 | c.*20 others(41): Show |
LAMTOR3 | ENSG00000109270.13 | transcript | ENST00000499666.7 | protein_coding | 7/7 | 2033 | chr4 | TogoVar | |||||
LAPTM4B_chr8_97770788_97858013 | 97821538 | TGGATGTA others(23): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01081.hp2 others(31): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0002g0142a0001c0001t0002g0143a0001c0001t0002g0358others(31): Show | 34 | 380 | 0.0895 | -30 | c.507 others(47): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
LARGE1_chr22_33267509_33925476 | 33394715 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0013a0001c0001t0014others(1): Show | a0001c0001t0001g0044a0001c0001t0013g0095a0001c0001t0014g0075others(1): Show | 4 | 110 | 0.0364 | -30 | c.893 others(49): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 7/14 | chr22 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33574686 | TTGTGTGT others(23): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0016 | 1 | 110 | 0.0091 | -30 | c.616 others(47): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 5/14 | chr22 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33766913 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02258.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0009a0001c0001t0005g0024a0001c0001t0007g0048others(3): Show | 6 | 110 | 0.0546 | -30 | c.-82 others(47): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33777652 | GGGAGGGG others(23): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02055.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0001g0044a0001c0001t0001g0072a0001c0001t0005g0028others(14): Show | 17 | 110 | 0.1546 | -30 | c.-82 others(49): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33785082 | CATATGTG others(23): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0032a0001c0004t0001 | a0001c0003t0032g0107a0001c0004t0001g0005 | 2 | 110 | 0.0182 | -30 | c.-82 others(49): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128130419 | GCAAATAT others(23): Show |
G | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 | 1 | 336 | 0.0030 | -30 | c.152 others(49): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
LARP1B_chr4_128056312_128216988 | 128204203 | ACTTCTCC others(23): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00609.hp1 others(22): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0007others(1): Show | a0001c0001t0004a0002c0002t0011a0006c0007t0004others(1): Show | a0001c0001t0004g0308a0001c0001t0004g0309a0001c0001t0004g0310others(22): Show | 25 | 336 | 0.0744 | -30 | c.231 others(49): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50422781 | ATATTATT others(23): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0006a0001c0010 | a0001c0006t0007a0001c0010t0007 | a0001c0006t0007g0108a0001c0006t0007g0109a0001c0006t0007g0110others(1): Show | 4 | 318 | 0.0126 | -30 | c.19- others(45): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LAT2_chr7_74205006_74234834 | 74214333 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG02132.hp1 NA18945.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0190a0001c0001t0001g0191 | 3 | 344 | 0.0087 | -30 | c.-21 others(47): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LAT2_chr7_74205006_74234834 | 74214389 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG02015.hp1 NA18939.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0031a0001c0003t0001g0032a0001c0003t0001g0054 | 3 | 344 | 0.0087 | -30 | c.-21 others(47): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LCE4A_chr1_152703160_152714434 | 152710006 | CTCTCTCT others(23): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | -30 | c.*63 others(39): Show |
LCE4A | ENSG00000187170.6 | transcript | ENST00000368777.2 | protein_coding | 573 | chr1 | TogoVar | ||||||
LCLAT1_chr2_30442246_30649225 | 30607845 | CTGTGTGT others(23): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01934.hp2 HG02486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0018a0001c0001t0044 | a0001c0001t0012g0336a0001c0001t0012g0337a0001c0001t0012g0338others(6): Show | 9 | 366 | 0.0246 | -30 | c.629 others(49): Show |
LCLAT1 | ENSG00000172954.14 | transcript | ENST00000379509.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LCN1_chr9_135516440_135531540 | 135529097 | AAAAATAA others(23): Show |
A | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 436 | 0.0023 | -30 | c.*27 others(41): Show |
LCN1 | ENSG00000160349.10 | transcript | ENST00000371781.4 | protein_coding | 2558 | chr9 | TogoVar | ||||||
LCORL_chr4_17836187_18026755 | 17998979 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp2 HG03225.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0236a0001c0003t0003g0237a0001c0003t0003g0258 | 3 | 292 | 0.0103 | -30 | c.154 others(49): Show |
LCORL | ENSG00000178177.17 | transcript | ENST00000635767.2 | protein_coding | 1/7 | chr4 | TogoVar | ||||||
LCORL_chr4_17836187_18026755 | 17998981 | AAAAAATA others(23): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02622.hp1 NA18522.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0022 | a0001c0003t0003g0262a0001c0003t0003g0263a0001c0003t0022g0243 | 3 | 292 | 0.0103 | -30 | c.154 others(49): Show |
LCORL | ENSG00000178177.17 | transcript | ENST00000635767.2 | protein_coding | 1/7 | chr4 | TogoVar | ||||||
LCOR_chr10_96827298_97000956 | 96920489 | TATATATG others(23): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00741.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0018a0001c0001t0022others(17): Show | a0001c0001t0016g0004a0001c0001t0016g0136a0001c0001t0016g0176others(24): Show | 27 | 288 | 0.0938 | -30 | c.-18 others(51): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LCP2_chr5_170241233_170302777 | 170278388 | AGGGGGAT others(23): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0344 | 1 | 384 | 0.0026 | -30 | c.189 others(47): Show |
LCP2 | ENSG00000043462.13 | transcript | ENST00000046794.10 | protein_coding | 3/20 | chr5 | TogoVar | ||||||
LCTL_chr15_66542532_66570998 | 66568863 | CACACACA others(23): Show |
C | upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 434 | 0.0023 | -30 | c.-30 others(41): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2866 | chr15 | TogoVar | ||||||
LCTL_chr15_66542532_66570998 | 66568865 | CACACACA others(23): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp2 HG02965.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0003 | a0001c0001t0001g0001a0001c0001t0001g0127a0001c0012t0003g0248 | 3 | 434 | 0.0069 | -30 | c.-30 others(41): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2868 | chr15 | TogoVar | ||||||
LCTL_chr15_66542532_66570998 | 66568867 | CACACACA others(23): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | -30 | c.-30 others(41): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2870 | chr15 | TogoVar | ||||||
LCTL_chr15_66542532_66570998 | 66568869 | CACACACA others(23): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01261.hp2 HG01884.hp2 others(12): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0037others(10): Show | 15 | 434 | 0.0346 | -30 | c.-30 others(41): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2872 | chr15 | TogoVar | ||||||
LCTL_chr15_66542532_66570998 | 66568871 | CACACATA others(23): Show |
C | upstream_gene_variant | MODIFIER | NA18970.hp2 NA19003.hp2 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0223a0001c0001t0001g0224 | 3 | 434 | 0.0069 | -30 | c.-30 others(41): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2874 | chr15 | TogoVar | ||||||
LCTL_chr15_66542532_66570998 | 66568875 | CATATATA others(23): Show |
C | upstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 434 | 0.0023 | -30 | c.-30 others(41): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2878 | chr15 | TogoVar | ||||||
LDAH_chr2_20679031_20828101 | 20704979 | ACTTCCCT others(23): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017 | 1 | 258 | 0.0039 | -30 | c.704 others(47): Show |
LDAH | ENSG00000118961.15 | transcript | ENST00000237822.8 | protein_coding | 5/6 | chr2 | TogoVar | ||||||
LDB2_chr4_16496541_16903645 | 16755522 | TGTATGTG others(23): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00741.hp1 others(26): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0053a0001c0001t0001g0056others(26): Show | 29 | 162 | 0.1790 | -30 | c.235 others(47): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 2/7 | chr4 | TogoVar | ||||||
LDB2_chr4_16496541_16903645 | 16897916 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 162 | 0.0062 | -30 | c.132 others(45): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 1/7 | chr4 | TogoVar | ||||||
LDHAL6A_chr11_18450856_18484601 | 18453598 | GTGTGTGT others(23): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00733.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0021others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0097a0001c0001t0006g0001others(23): Show | 26 | 420 | 0.0619 | -30 | c.-30 others(41): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 2257 | chr11 | TogoVar | ||||||
LDHAL6A_chr11_18450856_18484601 | 18467940 | CACACATA others(23): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0315 | 1 | 420 | 0.0024 | -30 | c.418 others(47): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LDHAL6A_chr11_18450856_18484601 | 18468038 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0271 | 1 | 420 | 0.0024 | -30 | c.418 others(47): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LDHA_chr11_18389563_18413425 | 18400429 | CCACACAC others(23): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01978.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0011 | a0001c0001t0001g0133a0001c0001t0001g0135a0001c0001t0001g0136others(2): Show | 5 | 390 | 0.0128 | -30 | c.245 others(45): Show |
LDHA | ENSG00000134333.15 | transcript | ENST00000422447.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LDHC_chr11_18407318_18457063 | 18453598 | GTGTGTGT others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01070.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0018a0001c0001t0002g0019others(19): Show | 23 | 348 | 0.0661 | -30 | c.*24 others(41): Show |
LDHC | ENSG00000166796.12 | transcript | ENST00000541669.6 | protein_coding | 1536 | chr11 | TogoVar | ||||||
LDLRAD4_chr18_13213760_13657751 | 13217647 | ACGGCGGC others(23): Show |
A | upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0153 | 1 | 178 | 0.0056 | -30 | c.-18 others(41): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1112 | chr18 | TogoVar |