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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITGA9_chr3_37447141_37828507 | 37512149 | CTTTTCTT others(49): Show |
C | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031 | 1 | 168 | 0.0060 | -56 | c.898 others(73): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGAE_chr17_3709628_3806188 | 3754904 | TGCCCCGC others(49): Show |
T | intron_variant | MODIFIER | HG04115.hp2 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0222 | 1 | 302 | 0.0033 | -56 | c.138 others(73): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 12/30 | chr17 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9406031 | GTGTCACT others(49): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01123.hp2 HG01256.hp2 HG01258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0028others(1): Show | a0001c0001t0004g0004 a0001c0001t0004g0217 a0001c0001t0010g0237 others(3): Show |
8 | 276 | 0.0290 | -56 | c.*74 others(65): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 747 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406116 | CGTCTTCC others(49): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00741.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0031a0001c0001t0055others(2): Show | a0001c0001t0009g0002 a0001c0001t0031g0227 a0001c0001t0055g0055 others(2): Show |
7 | 276 | 0.0254 | -56 | c.*66 others(65): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 662 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406172 | AGTCTTCC others(49): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0218 | 1 | 276 | 0.0036 | -56 | c.*60 others(65): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 606 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406284 | CGTCTTCC others(49): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01952.hp1 HG02135.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0076a0001c0001t0083a0001c0001t0091others(2): Show | a0001c0001t0076g0051 a0001c0001t0083g0042 a0001c0001t0091g0125 others(2): Show |
5 | 276 | 0.0181 | -56 | c.*49 others(65): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 494 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406340 | AGTCTTCC others(49): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0021 | 1 | 276 | 0.0036 | -56 | c.*43 others(65): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 438 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406396 | CGTCTTCC others(49): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG00741.hp1 HG02129.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0065a0001c0001t0069others(4): Show | a0001c0001t0014g0007 a0001c0001t0065g0060 a0001c0001t0069g0122 others(4): Show |
8 | 276 | 0.0290 | -56 | c.*38 others(65): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 382 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406452 | AGTCTTCC others(49): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03239.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0209a0001c0001t0217 | a0001c0001t0209g0100 a0001c0001t0217g0192 |
2 | 276 | 0.0073 | -56 | c.*32 others(65): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 326 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406505 | TCTCGTCT others(49): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02451.hp1 HG03195.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0020a0001c0001t0232 | a0001c0001t0008g0015 a0001c0001t0008g0157 a0001c0001t0020g0212 others(1): Show |
5 | 276 | 0.0181 | -56 | c.*27 others(65): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 273 | chr2 | TogoVar | ||||||
ITGB3BP_chr1_63435770_63528225 | 63444578 | GATATATA others(49): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00621.hp1 others(68): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0011 a0001c0001t0001g0214 a0001c0001t0001g0262 others(68): Show |
71 | 374 | 0.1898 | -56 | c.*1+ others(71): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7556067 | CATATATA others(49): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0010 | a0010c0024 | a0010c0024t0008 | a0010c0024t0008g0193 a0010c0024t0008g0194 |
2 | 342 | 0.0059 | -56 | c.*69 others(67): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 3202 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644496 | AATCACAT others(49): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02145.hp1 others(3): Show |
a0001a0002a0003others(3): Show | a0001c0054a0002c0004a0003c0055others(3): Show | a0001c0054t0001a0002c0004t0003a0003c0055t0041others(3): Show | a0001c0054t0001g0009 a0002c0004t0003g0259 a0003c0055t0041g0005 others(3): Show |
6 | 342 | 0.0175 | -56 | c.136 others(73): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
KAZN_chr1_14593685_15123043 | 14873059 | GATGGATG others(49): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0002g0026 others(44): Show |
47 | 146 | 0.3219 | -56 | c.227 others(75): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNIP3_chr2_95292347_95391077 | 95325666 | CATACACA others(49): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 298 | 0.0034 | -56 | c.181 others(75): Show |
KCNIP3 | ENSG00000115041.14 | transcript | ENST00000295225.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21015552 | TTAATATA others(49): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0033 | 1 | 80 | 0.0125 | -56 | c.62- others(75): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21528732 | AAAGAAAG others(49): Show |
A | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 80 | 0.0125 | -56 | c.61+ others(75): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21528740 | AAAGAAAG others(49): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG02257.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001a0001c0002t0006 | a0001c0001t0004g0043 a0001c0001t0004g0067 a0001c0002t0001g0049 others(1): Show |
4 | 80 | 0.0500 | -56 | c.61+ others(75): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21528752 | AAAGAAAG others(49): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016 | 1 | 80 | 0.0125 | -56 | c.61+ others(75): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178757625 | TATATATA others(49): Show |
T | intron_variant | MODIFIER | HG03139.hp2 HG03491.hp1 HG03492.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0010 a0001c0001t0003g0023 a0001c0001t0003g0230 others(2): Show |
5 | 232 | 0.0216 | -56 | c.-67 others(75): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759726 | ACACATAT others(49): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0194 a0001c0002t0001g0189 |
2 | 232 | 0.0086 | -56 | c.-67 others(75): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759756 | ATATATAT others(49): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01515.hp2 HG01517.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0168 a0001c0001t0002g0178 a0001c0001t0003g0083 others(1): Show |
4 | 232 | 0.0172 | -56 | c.-67 others(75): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759933 | TATCTATA others(49): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 a0001c0001t0005g0128 |
2 | 232 | 0.0086 | -56 | c.-67 others(75): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72941666 | CTCTTTCT others(49): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG06807.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0003a0001c0009t0014 | a0001c0002t0003g0064 a0001c0009t0014g0031 |
2 | 80 | 0.0250 | -56 | c.399 others(75): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCTD16_chr5_144165873_144490686 | 144299044 | CTATATAT others(49): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0071 | 1 | 156 | 0.0064 | -56 | c.832 others(75): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCTD16_chr5_144165873_144490686 | 144299078 | GTATATAT others(49): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0013 | 1 | 156 | 0.0064 | -56 | c.832 others(75): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCTD9_chr8_25422847_25463433 | 25444039 | GTTACAGT others(49): Show |
G | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 350 | 0.0029 | -56 | c.214 others(71): Show |
KCTD9 | ENSG00000104756.17 | transcript | ENST00000221200.9 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
KDM6A_chrX_44868188_45117779 | 45042638 | TACTTCTC others(49): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG01167.hp1 others(40): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0125 a0001c0001t0001g0165 a0001c0001t0001g0166 others(40): Show |
43 | 199 | 0.2161 | -56 | c.654 others(73): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM7A_chr7_140079746_140181983 | 140100660 | TTATATAT others(49): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00639.hp2 others(51): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0005others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0325 a0002c0002t0003g0220 others(49): Show |
54 | 344 | 0.1570 | -56 | c.163 others(73): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | |||||||
KDM7A_chr7_140079746_140181983 | 140100687 | TACATATA others(49): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0274 a0002c0002t0011g0275 |
2 | 344 | 0.0058 | -56 | c.163 others(73): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | |||||||
KIAA1755_chr20_38205503_38265735 | 38205928 | CAGCCTCC others(49): Show |
C | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0016 | a0016c0019 | a0016c0019t0009 | a0016c0019t0009g0236 | 1 | 358 | 0.0028 | -56 | c.*70 others(67): Show |
KIAA1755 | ENSG00000149633.12 | transcript | ENST00000279024.9 | protein_coding | 4574 | chr20 | TogoVar | |||||||
KIF1B_chr1_10205570_10386603 | 10372632 | TGCGCCGC others(49): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03540.hp2 HG03579.hp1 |
a0003 | a0003c0006 | a0003c0006t0025a0003c0006t0040 | a0003c0006t0025g0017 a0003c0006t0025g0035 a0003c0006t0040g0291 |
3 | 300 | 0.0100 | -56 | c.494 others(75): Show |
KIF1B | ENSG00000054523.20 | transcript | ENST00000676179.1 | protein_coding | 45/48 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245556334 | TCCTCCTT others(49): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02145.hp1 HG02257.hp2 others(8): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0024a0001c0001t0038a0001c0002t0001others(8): Show | a0001c0001t0024g0070 a0001c0001t0038g0107 a0001c0002t0001g0110 others(8): Show |
11 | 160 | 0.0688 | -56 | c.135 others(77): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87711878 | CCCTGCAC others(49): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01109.hp1 others(21): Show |
a0001a0002a0005others(4): Show | a0001c0001a0002c0002a0005c0005others(4): Show | a0001c0001t0001a0002c0002t0001a0005c0005t0001others(5): Show | a0001c0001t0001g0262 a0002c0002t0001g0152 a0002c0002t0001g0153 others(21): Show |
24 | 380 | 0.0632 | -56 | c.836 others(71): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 8/11 | chr16 | TogoVar | |||||||
KLHL14_chr18_32667673_32778023 | 32777334 | CCCAGCTG others(49): Show |
C | upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0086 | 1 | 204 | 0.0049 | -56 | c.-47 others(67): Show |
KLHL14 | ENSG00000197705.10 | transcript | ENST00000359358.9 | protein_coding | 4312 | chr18 | TogoVar | |||||||
KLHL30_chr2_238133668_238157947 | 238144392 | AAGGAAGG others(49): Show |
A | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0162 | 1 | 450 | 0.0022 | -56 | c.908 others(71): Show |
KLHL30 | ENSG00000168427.9 | transcript | ENST00000409223.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLRC3_chr12_10407315_10425595 | 10419903 | CAGGACAA others(49): Show |
C | frameshift_variant | HIGH | HG01981.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0072 | 1 | 448 | 0.0022 | -56 | c.193 others(63): Show |
p.Leu others(4): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 2/7 | 293/1025 | 193/723 | 65/240 | chr12 | TogoVar | |||
KMO_chr1_241527378_241600642 | 241562842 | AGAAGGAA others(49): Show |
A | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0115 | 1 | 422 | 0.0024 | -56 | c.615 others(71): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152307222 | GAAGGAAG others(49): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG03041.hp1 |
a0002 | a0002c0004a0002c0007 | a0002c0004t0002a0002c0007t0002 | a0002c0004t0002g0026 a0002c0007t0002g0022 |
2 | 172 | 0.0116 | -56 | c.849 others(73): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41051006 | ATATATAT others(49): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp1 HG03540.hp2 |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0001 | a0001c0001t0001g0000 a0008c0010t0001g0000 |
2 | 407 | 0.0049 | -56 | c.-37 others(67): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3691 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41051006 | ATATATAT others(49): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp2 HG03540.hp2 NA19091.hp2 |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0016 | a0001c0001t0002a0002c0003t0001a0004c0016t0011 | a0001c0001t0002g0000 a0002c0003t0001g0000 a0004c0016t0011g0000 |
3 | 411 | 0.0073 | -56 | c.*37 others(67): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3491 | chr17 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117465753 | TTCACTGC others(49): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(21): Show | a0001c0001t0001g0079 a0001c0001t0001g0152 a0001c0001t0001g0153 others(27): Show |
30 | 196 | 0.1531 | -56 | c.*13 others(67): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 20/20 | 1390 | chr12 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62313816 | CGAGGGGT others(49): Show |
C | intron_variant | MODIFIER | HG01975.hp2 | a0050 | a0050c0059 | a0050c0059t0001 | a0050c0059t0001g0033 | 1 | 186 | 0.0054 | -56 | c.850 others(71): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 62/79 | chr20 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146174447 | AATATATA others(49): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02738.hp2 HG03831.hp1 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0169 a0001c0004t0006g0175 a0001c0004t0006g0176 |
3 | 284 | 0.0106 | -56 | c.126 others(73): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LAT2_chr7_74205006_74234834 | 74214307 | AATATATA others(49): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 344 | 0.0029 | -56 | c.-21 others(73): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LCN9_chr9_135658309_135671961 | 135670487 | ACGGGGGA others(49): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0014others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(88): Show |
355 | 424 | 0.8373 | -56 | c.*46 others(67): Show |
LCN9 | ENSG00000148386.10 | transcript | ENST00000619315.2 | protein_coding | 3527 | chr9 | TogoVar | |||||||
LCTL_chr15_66542532_66570998 | 66568855 | CACACACA others(49): Show |
C | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 434 | 0.0023 | -56 | c.-30 others(67): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2858 | chr15 | TogoVar | |||||||
LDB2_chr4_16496541_16903645 | 16897895 | AATATATA others(49): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(43): Show |
46 | 162 | 0.2840 | -56 | c.132 others(71): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
LHFPL2_chr5_78480230_78653772 | 78592676 | CACACACA others(49): Show |
C | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 254 | 0.0039 | -56 | c.-24 others(77): Show |
LHFPL2 | ENSG00000145685.14 | transcript | ENST00000380345.7 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
LHFPL3_chr7_104323603_104913561 | 104833282 | GATATATA others(49): Show |
G | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 86 | 0.0116 | -56 | c.683 others(75): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |