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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KYAT1_chr9_128827942_128886950 | 128865326 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 312 | 0.0032 | -19 | c.-7+ others(36): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865330 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 319 | 0.0031 | -19 | c.-7+ others(36): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
L1CAM_chrX_153856516_153891173 | 153860511 | CTTTCTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02622.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0081 a0001c0001t0001g0148 a0001c0001t0005g0161 others(2): Show |
5 | 281 | 0.0178 | -19 | c.*21 others(30): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 1004 | chrX | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6265678 | AAGTGAAA others(12): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0005g0075 others(1): Show |
4 | 92 | 0.0435 | -19 | c.128 others(36): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | |||||||
LACTB2_chr8_70632266_70674185 | 70643208 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG00738.hp1 others(40): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0082 a0001c0002t0003g0008 a0001c0002t0003g0021 others(30): Show |
43 | 48 | 0.8958 | -19 | c.592 others(34): Show |
LACTB2 | ENSG00000147592.9 | transcript | ENST00000276590.5 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
LAIR2_chr19_54497831_54515687 | 54514555 | GTTTTTTT others(12): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02738.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0094 a0001c0001t0003g0005 a0001c0001t0003g0119 |
3 | 42 | 0.0714 | -19 | c.*39 others(30): Show |
LAIR2 | ENSG00000167618.10 | transcript | ENST00000301202.7 | protein_coding | 3869 | chr19 | TogoVar | |||||||
LAMA3_chr18_23684453_23960066 | 23750432 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | NA18951.hp2 NA18960.hp1 |
a0002 | a0002c0003a0002c0050 | a0002c0003t0001a0002c0050t0001 | a0002c0003t0001g0110 a0002c0050t0001g0212 |
2 | 9 | 0.2222 | -19 | c.685 others(34): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 4/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62321194 | TGGGGCCA others(12): Show |
T | intron_variant | MODIFIER | HG02027.hp2 | a0051 | a0051c0094 | a0051c0094t0001 | a0051c0094t0001g0097 | 1 | 184 | 0.0054 | -19 | c.649 others(36): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | |||||||
LAMB4_chr7_108018553_108135361 | 108043545 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02818.hp1 HG04204.hp1 others(2): Show |
a0006a0012a0015others(1): Show | a0006c0016a0012c0014a0015c0041others(1): Show | a0006c0016t0001a0006c0016t0002a0012c0014t0001others(2): Show | a0006c0016t0001g0083 a0006c0016t0002g0101 a0012c0014t0001g0215 others(2): Show |
5 | 125 | 0.0400 | -19 | c.447 others(36): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 29/33 | chr7 | TogoVar | |||||||
LAMB4_chr7_108018553_108135361 | 108066053 | AAACGACT others(12): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp2 HG02257.hp2 others(4): Show |
a0003a0007a0011 | a0003c0004a0007c0011a0011c0013 | a0003c0004t0002a0007c0011t0002a0011c0013t0002 | a0003c0004t0002g0226 a0007c0011t0002g0156 a0007c0011t0002g0157 others(4): Show |
7 | 290 | 0.0241 | -19 | c.267 others(36): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 20/33 | chr7 | TogoVar | |||||||
LAMB4_chr7_108018553_108135361 | 108133528 | AGTAGAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02080.hp2 NA19090.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0239 a0001c0002t0003g0176 |
2 | 290 | 0.0069 | -19 | c.-32 others(30): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 3168 | chr7 | TogoVar | |||||||
LAMC3_chr9_131004174_131099473 | 131096385 | TGGCGGGA others(12): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(53): Show |
a0003a0005a0010others(16): Show | a0003c0021a0005c0007a0005c0016others(31): Show | a0003c0021t0001a0005c0007t0003a0005c0007t0018others(38): Show | a0003c0021t0001g0092 a0003c0021t0001g0190 a0005c0007t0003g0300 others(53): Show |
56 | 356 | 0.1573 | -19 | c.*45 others(30): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 1913 | chr9 | TogoVar | |||||||
LAMC3_chr9_131004174_131099473 | 131096421 | AGAGGCGG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp2 HG03139.hp2 HG03516.hp2 others(2): Show |
a0031a0045a0063others(1): Show | a0031c0025a0045c0062a0045c0215others(2): Show | a0031c0025t0006a0045c0062t0006a0045c0215t0006others(2): Show | a0031c0025t0006g0090 a0045c0062t0006g0012 a0045c0215t0006g0039 others(2): Show |
5 | 354 | 0.0141 | -19 | c.*46 others(30): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 1949 | chr9 | TogoVar | |||||||
LAMP1_chr13_113292239_113328672 | 113301639 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03130.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 a0001c0001t0003g0063 a0001c0001t0003g0079 |
3 | 301 | 0.0100 | -19 | c.61+ others(34): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LAMP1_chr13_113292239_113328672 | 113301641 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0077 a0001c0001t0003g0078 |
2 | 285 | 0.0070 | -19 | c.61+ others(34): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LAMP3_chr3_183117215_183167734 | 183149563 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0081 others(20): Show |
26 | 243 | 0.1070 | -19 | c.888 others(36): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
LAMP3_chr3_183117215_183167734 | 183149565 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02572.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0129 a0001c0001t0001g0273 others(1): Show |
4 | 363 | 0.0110 | -19 | c.888 others(36): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
LANCL2_chr7_55360337_55438737 | 55379032 | GAGGCAGG others(12): Show |
G | intron_variant | MODIFIER | HG03225.hp2 HG03579.hp2 |
a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0037 a0001c0004t0013g0038 |
2 | 350 | 0.0057 | -19 | c.205 others(38): Show |
LANCL2 | ENSG00000132434.10 | transcript | ENST00000254770.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33730705 | TTTGAGAC others(12): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027 | 1 | 108 | 0.0093 | -19 | c.106 others(38): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
LARGE2_chr11_45917656_45934096 | 45923985 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03130.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 2 | 61 | 0.0328 | -19 | c.369 others(34): Show |
LARGE2 | ENSG00000165905.18 | transcript | ENST00000401752.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LARGE2_chr11_45917656_45934096 | 45925661 | TAAATAAG others(12): Show |
T | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 416 | 0.0024 | -19 | c.770 others(34): Show |
LARGE2 | ENSG00000165905.18 | transcript | ENST00000401752.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128073572 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG02723.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0187 a0001c0001t0001g0275 a0002c0002t0002g0026 others(4): Show |
7 | 212 | 0.0330 | -19 | c.-77 others(34): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128129164 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01192.hp1 HG02486.hp2 others(10): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(10): Show |
13 | 31 | 0.4194 | -19 | c.152 others(38): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP4B_chr10_804497_936705 | 905660 | GGGGAGGA others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(179): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(178): Show |
182 | 286 | 0.6364 | -19 | c.-39 others(38): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 1/17 | chr10 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146139779 | GCAGGAGA others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(135): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 others(134): Show |
138 | 282 | 0.4894 | -19 | c.214 others(36): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 21/31 | chr5 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146181848 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(3): Show |
6 | 11 | 0.5455 | -19 | c.6+6 others(30): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 1/31 | chr5 | TogoVar | |||||||
LAT2_chr7_74205006_74234834 | 74219009 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0050 a0001c0002t0001g0029 |
2 | 88 | 0.0227 | -19 | c.135 others(34): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LATS2_chr13_20968036_21066586 | 20969694 | AAAAATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0014 | a0002c0014t0018 | a0002c0014t0018g0041 | 1 | 307 | 0.0033 | -19 | c.*51 others(30): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3341 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20969698 | ATATATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01358.hp2 others(17): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0010a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0022others(5): Show | a0001c0001t0001g0176 a0001c0001t0001g0193 a0001c0001t0001g0195 others(17): Show |
20 | 220 | 0.0909 | -19 | c.*51 others(30): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 3337 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21023665 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0032 | a0003c0032t0016 | a0003c0032t0016g0313 | 1 | 314 | 0.0032 | -19 | c.342 others(38): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 21030593 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01358.hp1 HG01496.hp2 others(10): Show |
a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0014 a0002c0006t0004g0015 a0002c0006t0004g0018 others(10): Show |
13 | 314 | 0.0414 | -19 | c.342 others(38): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
LAX1_chr1_203760183_203781372 | 203769398 | AAAGAAAG others(12): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 416 | 0.0024 | -19 | c.90- others(34): Show |
LAX1 | ENSG00000122188.13 | transcript | ENST00000442561.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LBHD1_chr11_62657817_62677267 | 62658722 | CCTCCCGG others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(91): Show |
266 | 358 | 0.7430 | -19 | c.*43 others(30): Show |
LBHD1 | ENSG00000162194.13 | transcript | ENST00000354588.8 | protein_coding | 4094 | chr11 | TogoVar | |||||||
LCA5_chr6_79479991_79542430 | 79525764 | TTTGTAAC others(12): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00609.hp2 others(149): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0009a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(72): Show |
152 | 398 | 0.3819 | -19 | c.-19 others(38): Show |
LCA5 | ENSG00000135338.14 | transcript | ENST00000369846.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
LCP2_chr5_170241233_170302777 | 170272592 | ATTTTCTT others(12): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0340 | 1 | 381 | 0.0026 | -19 | c.324 others(36): Show |
LCP2 | ENSG00000043462.13 | transcript | ENST00000046794.10 | protein_coding | 6/20 | chr5 | TogoVar | |||||||
LCP2_chr5_170241233_170302777 | 170290965 | AAAGAAAG others(12): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02809.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0006a0001c0002t0007others(1): Show | a0001c0002t0001g0279 a0001c0002t0006g0317 a0001c0002t0007g0319 others(2): Show |
5 | 321 | 0.0156 | -19 | c.141 others(36): Show |
LCP2 | ENSG00000043462.13 | transcript | ENST00000046794.10 | protein_coding | 2/20 | chr5 | TogoVar | |||||||
LCP2_chr5_170241233_170302777 | 170290989 | AAAGAAAG others(12): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG02055.hp2 |
a0001a0002 | a0001c0006a0002c0011 | a0001c0006t0001a0002c0011t0001 | a0001c0006t0001g0212 a0002c0011t0001g0210 |
2 | 382 | 0.0052 | -19 | c.141 others(36): Show |
LCP2 | ENSG00000043462.13 | transcript | ENST00000046794.10 | protein_coding | 2/20 | chr5 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135785409 | ACCAACAG others(12): Show |
A | downstream_gene_variant | MODIFIER | NA19078.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0188 | 1 | 364 | 0.0027 | -19 | c.*28 others(30): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 2440 | chr2 | TogoVar | |||||||
LDB1_chr10_102101489_102125368 | 102106541 | CAAAAAAA others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18971.hp2 NA18982.hp2 NA18984.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0028 a0001c0001t0015g0100 a0001c0001t0015g0165 |
5 | 28 | 0.1786 | -19 | c.*15 others(30): Show |
LDB1 | ENSG00000198728.11 | transcript | ENST00000673968.1 | protein_coding | 11/11 | 1533 | chr10 | TogoVar | ||||||
LDB2_chr4_16496541_16903645 | 16570462 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03225.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0151 a0001c0001t0004g0106 a0001c0002t0001g0041 |
3 | 27 | 0.1111 | -19 | c.615 others(38): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 5/7 | chr4 | TogoVar | |||||||
LDB2_chr4_16496541_16903645 | 16649398 | TGAGAGAG others(12): Show |
T | intron_variant | MODIFIER | HG01258.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0062 a0001c0001t0002g0066 |
2 | 160 | 0.0125 | -19 | c.236 others(38): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
LDHC_chr11_18407318_18457063 | 18449428 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00621.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 others(19): Show |
23 | 37 | 0.6216 | -19 | c.835 others(36): Show |
LDHC | ENSG00000166796.12 | transcript | ENST00000541669.6 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LDLRAD4_chr18_13213760_13657751 | 13229794 | TGGCTTTG others(12): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0004 | 1 | 176 | 0.0057 | -19 | c.-46 others(40): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
LDLRAD4_chr18_13213760_13657751 | 13321861 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01243.hp2 HG01952.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0002g0046 a0001c0001t0002g0090 a0001c0001t0002g0149 others(15): Show |
18 | 25 | 0.7200 | -19 | c.-38 others(40): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LDLRAD4_chr18_13213760_13657751 | 13541818 | CAAGCCAG others(12): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0010a0001c0001t0012others(4): Show | a0001c0001t0002g0090 a0001c0001t0002g0109 a0001c0001t0010g0084 others(5): Show |
8 | 176 | 0.0455 | -19 | c.182 others(38): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LDLR_chr19_11084463_11138820 | 11122682 | ATGAGCCA others(12): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03579.hp1 |
a0001 | a0001c0018 | a0001c0018t0024 | a0001c0018t0024g0046 a0001c0018t0024g0320 |
2 | 356 | 0.0056 | -19 | c.214 others(36): Show |
LDLR | ENSG00000130164.15 | transcript | ENST00000558518.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
LEPR_chr1_65415668_65646559 | 65612895 | CGTCTGGC others(12): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0025 | a0002c0025t0025 | a0002c0025t0025g0015 | 1 | 214 | 0.0047 | -19 | c.199 others(38): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LEP_chr7_128236278_128262629 | 128258714 | TTTCTTTC others(12): Show |
T | downstream_gene_variant | MODIFIER | NA18939.hp2 NA18962.hp2 NA18979.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0006 | 4 | 394 | 0.0102 | -19 | c.*39 others(30): Show |
LEP | ENSG00000174697.5 | transcript | ENST00000308868.5 | protein_coding | 1086 | chr7 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202284041 | AGCAAATC others(12): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0170 | 1 | 260 | 0.0038 | -19 | c.716 others(36): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LHCGR_chr2_48681774_48760724 | 48757108 | ACTCAGCC others(12): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02809.hp1 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0063 a0002c0002t0003g0064 others(1): Show |
6 | 372 | 0.0161 | -19 | c.-14 others(30): Show |
LHCGR | ENSG00000138039.15 | transcript | ENST00000294954.12 | protein_coding | 1385 | chr2 | TogoVar |