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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ISG20_chr15_88634016_88661483 | 88646824 | GCAGTGGC others(39): Show |
G | intron_variant | MODIFIER | NA18953.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0204 | 1 | 436 | 0.0023 | -46 | c.229 others(63): Show |
ISG20 | ENSG00000172183.16 | transcript | ENST00000306072.10 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37512124 | CTTTTCTT others(39): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 NA18747.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0003g0024 others(6): Show |
9 | 168 | 0.0536 | -46 | c.898 others(63): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31302884 | CTCTTTCT others(39): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0172 | 1 | 244 | 0.0041 | -46 | c.170 others(65): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334532 | TTCCTTCC others(39): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0110 | 1 | 244 | 0.0041 | -46 | c.*28 others(57): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1656 | chr16 | TogoVar | |||||||
ITIH1_chr3_52772599_52797062 | 52781204 | TTTTTTTC others(39): Show |
T | intron_variant | MODIFIER | NA18992.hp1 NA19085.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 2 | 406 | 0.0049 | -46 | c.688 others(61): Show |
ITIH1 | ENSG00000055957.11 | transcript | ENST00000273283.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7556067 | CATATATA others(39): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp2 | a0015 | a0015c0019 | a0015c0019t0021 | a0015c0019t0021g0111 | 1 | 342 | 0.0029 | -46 | c.*69 others(57): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 3202 | chr10 | TogoVar | |||||||
ITSN1_chr21_33637501_33904861 | 33690775 | GTATATAT others(39): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG06807.hp2 NA19043.hp2 |
a0001 | a0001c0002a0001c0027 | a0001c0002t0013a0001c0002t0070a0001c0027t0010 | a0001c0002t0013g0241 a0001c0002t0070g0242 a0001c0027t0010g0240 |
3 | 242 | 0.0124 | -46 | c.-32 others(65): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173698 | CCTGTGGT others(39): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01255.hp1 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0006a0002c0005a0002c0025others(4): Show | a0001c0006t0035a0002c0005t0011a0002c0025t0032others(6): Show | a0001c0006t0035g0057 a0002c0005t0011g0096 a0002c0025t0032g0103 others(8): Show |
11 | 158 | 0.0696 | -46 | c.*11 others(67): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87688439 | TGTCTCCC others(39): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01346.hp1 HG01884.hp1 others(32): Show |
a0001a0016 | a0001c0003a0001c0005a0001c0008others(7): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(12): Show | a0001c0003t0001g0012 a0001c0003t0001g0095 a0001c0003t0001g0152 others(32): Show |
35 | 380 | 0.0921 | -46 | c.128 others(65): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JTB_chr1_153969269_153982674 | 153982154 | CTGGGAGG others(39): Show |
C | upstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 386 | 0.0026 | -46 | c.-49 others(57): Show |
JTB | ENSG00000143543.15 | transcript | ENST00000271843.9 | protein_coding | 4481 | chr1 | TogoVar | |||||||
KCNH2_chr7_150939961_150983321 | 150978891 | AACACACA others(39): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0118 a0001c0002t0001g0116 others(2): Show |
6 | 358 | 0.0168 | -46 | c.-10 others(56): Show |
KCNH2 | ENSG00000055118.17 | transcript | ENST00000262186.10 | protein_coding | 571 | chr7 | TogoVar | |||||||
KCNJ3_chr2_154693695_154863354 | 154835421 | TATATGAA others(39): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00673.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0023 a0001c0001t0002g0013 a0001c0001t0002g0015 others(63): Show |
66 | 284 | 0.2324 | -46 | c.920 others(65): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178568816 | TAATAGAT others(39): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01169.hp1 HG03688.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0143 |
3 | 232 | 0.0129 | -46 | c.-68 others(65): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72941698 | TTCTTTCT others(39): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0011 | a0001c0011t0034 | a0001c0011t0034g0003 | 1 | 80 | 0.0125 | -46 | c.399 others(65): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCTD16_chr5_144165873_144490686 | 144299078 | GTATATAT others(39): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG02615.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0062 | a0001c0001t0018g0079 a0001c0001t0018g0099 a0001c0001t0062g0014 |
3 | 156 | 0.0192 | -46 | c.832 others(65): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KDM1A_chr1_23014468_23088689 | 23017175 | TTTTATAT others(39): Show |
T | upstream_gene_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 2 | 352 | 0.0057 | -46 | c.-24 others(57): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2292 | chr1 | TogoVar | |||||||
KDM4C_chr9_6752973_7180648 | 7019686 | TTATAAAA others(39): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp2 others(57): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0002c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(30): Show | a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0041 others(57): Show |
60 | 266 | 0.2256 | -46 | c.225 others(65): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM7A_chr7_140079746_140181983 | 140100665 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG06807.hp1 NA18522.hp2 |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0005a0002c0002t0014a0005c0006t0007 | a0002c0002t0005g0211 a0002c0002t0014g0019 a0005c0006t0007g0024 |
3 | 344 | 0.0087 | -46 | c.163 others(63): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | |||||||
KDM7A_chr7_140079746_140181983 | 140100697 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02922.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0035 a0001c0001t0017g0036 a0001c0001t0017g0037 |
3 | 344 | 0.0087 | -46 | c.163 others(63): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61848486 | TATATGTA others(39): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG02257.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0003t0003a0001c0003t0007 | a0001c0001t0017g0218 a0001c0003t0003g0025 a0001c0003t0003g0026 others(11): Show |
14 | 244 | 0.0574 | -46 | c.810 others(65): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61955463 | TGTGTATA others(39): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0130 | 1 | 244 | 0.0041 | -46 | c.483 others(65): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KIAA1217_chr10_24204138_24552843 | 24538582 | AAGGAAGG others(39): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00733.hp2 HG00738.hp1 others(36): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(21): Show | a0001c0001t0001g0108 a0001c0001t0002g0101 a0001c0001t0002g0110 others(36): Show |
39 | 240 | 0.1625 | -46 | c.353 others(65): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIF15_chr3_44756794_44858256 | 44821261 | CCCCCCAC others(39): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0228 | 1 | 232 | 0.0043 | -46 | c.255 others(65): Show |
KIF15 | ENSG00000163808.17 | transcript | ENST00000326047.9 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KIF1A_chr2_240708767_240825219 | 240779247 | CAGTTCCA others(39): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00673.hp2 others(71): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0005others(16): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(40): Show | a0001c0002t0001g0092 a0001c0002t0004g0065 a0001c0002t0005g0066 others(71): Show |
74 | 330 | 0.2242 | -46 | c.882 others(63): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240779319 | CTTCCTCA others(39): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0002a0001c0019 | a0001c0002t0010a0001c0019t0010 | a0001c0002t0010g0005 a0001c0002t0010g0006 a0001c0002t0010g0018 others(2): Show |
5 | 330 | 0.0152 | -46 | c.882 others(63): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240781165 | ACACACAC others(39): Show |
A | intron_variant | MODIFIER | HG02559.hp2 NA19240.hp2 |
a0001 | a0001c0015a0001c0060 | a0001c0015t0004a0001c0060t0005 | a0001c0015t0004g0157 a0001c0060t0005g0164 |
2 | 330 | 0.0061 | -46 | c.882 others(63): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | |||||||
KIF1B_chr1_10205570_10386603 | 10372642 | CGCGCCAG others(39): Show |
C | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 300 | 0.0033 | -46 | c.494 others(65): Show |
KIF1B | ENSG00000054523.20 | transcript | ENST00000676179.1 | protein_coding | 45/48 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF21B_chr1_200964390_201028714 | 201004666 | TGTCCAAG others(39): Show |
T | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0225 | 1 | 342 | 0.0029 | -46 | c.900 others(59): Show |
KIF21B | ENSG00000116852.15 | transcript | ENST00000461742.7 | protein_coding | 6/34 | chr1 | TogoVar | |||||||
KIF27_chr9_83829099_83926432 | 83848180 | TATATGAT others(39): Show |
T | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0125 | 1 | 346 | 0.0029 | -46 | c.355 others(65): Show |
KIF27 | ENSG00000165115.15 | transcript | ENST00000297814.7 | protein_coding | 16/17 | chr9 | TogoVar | |||||||
KIF4A_chrX_70285104_70425886 | 70393823 | TTCTTTCT others(39): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 259 | 0.0039 | -46 | c.223 others(65): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 69780699 | TATGTATA others(39): Show |
T | intron_variant | MODIFIER | HG02145.hp2 NA20300.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0012 | a0001c0002t0002g0112 a0001c0002t0012g0175 |
2 | 182 | 0.0110 | -46 | c.163 others(67): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
KLHL8_chr4_87155103_87225618 | 87197197 | GTGACTTG others(39): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(81): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(6): Show | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(76): Show |
84 | 364 | 0.2308 | -46 | c.-15 others(65): Show |
KLHL8 | ENSG00000145332.14 | transcript | ENST00000273963.10 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152436196 | GGGCCGGC others(39): Show |
G | upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 172 | 0.0058 | -46 | c.-45 others(55): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 194 | chr7 | TogoVar | |||||||
KMT5C_chr19_55334876_55353121 | 55338515 | TCTCTCTC others(39): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp1 NA18951.hp1 NA18984.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009 a0001c0001t0002g0068 |
7 | 406 | 0.0172 | -46 | c.-15 others(57): Show |
KMT5C | ENSG00000133247.14 | transcript | ENST00000255613.8 | protein_coding | 1360 | chr19 | TogoVar | |||||||
KNDC1_chr10_133155219_133231412 | 133185212 | GGAGTAGG others(39): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG02622.hp2 HG02965.hp1 |
a0003 | a0003c0016 | a0003c0016t0006 | a0003c0016t0006g0117 a0003c0016t0006g0118 a0003c0016t0006g0225 |
3 | 332 | 0.0090 | -46 | c.626 others(61): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133222409 | ATGTGTGT others(39): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0020 | 1 | 332 | 0.0030 | -46 | c.501 others(65): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KNL1_chr15_40589249_40669342 | 40665173 | CAGGCGTG others(39): Show |
C | downstream_gene_variant | MODIFIER | HG02083.hp2 | a0020 | a0020c0045 | a0020c0045t0001 | a0020c0045t0001g0220 | 1 | 370 | 0.0027 | -46 | c.*29 others(57): Show |
KNL1 | ENSG00000137812.21 | transcript | ENST00000399668.7 | protein_coding | 832 | chr15 | TogoVar | |||||||
KPNA3_chr13_49694320_49797682 | 49762093 | ATCCGGGA others(39): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(115): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(115): Show |
118 | 376 | 0.3138 | -46 | c.70- others(63): Show |
KPNA3 | ENSG00000102753.10 | transcript | ENST00000261667.8 | protein_coding | 1/16 | chr13 | TogoVar | |||||||
KPNA7_chr7_99168572_99213115 | 99180771 | CTCTCTCT others(39): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00597.hp2 others(115): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0100 a0001c0001t0001g0125 others(115): Show |
118 | 334 | 0.3533 | -46 | c.131 others(65): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 9/10 | chr7 | TogoVar | |||||||
KRT10_chr17_40813117_40827614 | 40817151 | CACAGGAA others(39): Show |
C | downstream_gene_variant | MODIFIER | HG02735.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0007 | 1 | 426 | 0.0024 | -46 | c.*12 others(57): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 965 | chr17 | TogoVar | |||||||
KRTAP21-2_chr21_30741794_30752259 | 30743530 | ATATATAT others(39): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 380 | 0.0026 | -46 | c.*33 others(57): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 3263 | chr21 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128872812 | CCTGTAAT others(39): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01069.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 others(24): Show |
28 | 326 | 0.0859 | -46 | c.-7+ others(61): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
LAMA4_chr6_112102931_112259567 | 112249927 | CTCTTATA others(39): Show |
C | intron_variant | MODIFIER | HG01071.hp2 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0216 | 1 | 314 | 0.0032 | -46 | c.195 others(63): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 2/38 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62352143 | GCCCACCT others(39): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0021 | a0021c0047 | a0021c0047t0001 | a0021c0047t0001g0058 | 1 | 186 | 0.0054 | -46 | c.687 others(59): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 4/79 | chr20 | TogoVar | |||||||
LBP_chr20_38341482_38382013 | 38378961 | GGGGGTCA others(39): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01934.hp1 HG02135.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0009 | a0001c0001t0001a0001c0002t0001a0002c0009t0001 | a0001c0001t0001g0170 a0001c0001t0001g0314 a0001c0002t0001g0311 others(2): Show |
5 | 394 | 0.0127 | -46 | c.*22 others(57): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 1949 | chr20 | TogoVar | |||||||
LBP_chr20_38341482_38382013 | 38379010 | GGGGGTCA others(39): Show |
G | downstream_gene_variant | MODIFIER | NA19005.hp1 NA19089.hp1 |
a0001a0025 | a0001c0003a0025c0026 | a0001c0003t0001a0025c0026t0001 | a0001c0003t0001g0071 a0025c0026t0001g0090 |
2 | 394 | 0.0051 | -46 | c.*23 others(57): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 1998 | chr20 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136766933 | TAGTGAAA others(39): Show |
T | upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 356 | 0.0028 | -46 | c.-24 others(57): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 2416 | chr9 | TogoVar | |||||||
LCP1_chr13_46120923_46187177 | 46162987 | GCAGCCGC others(39): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01081.hp2 others(15): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0091 a0001c0001t0001g0215 a0001c0001t0001g0254 others(15): Show |
18 | 382 | 0.0471 | -46 | c.-24 others(63): Show |
LCP1 | ENSG00000136167.15 | transcript | ENST00000323076.7 | protein_coding | 1/15 | chr13 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568863 | CACACACA others(39): Show |
C | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027 | 1 | 434 | 0.0023 | -46 | c.-30 others(57): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2866 | chr15 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568865 | CACACACA others(39): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG01074.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0001a0001c0005t0004a0001c0008t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(9): Show |
19 | 434 | 0.0438 | -46 | c.-30 others(57): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2868 | chr15 | TogoVar |