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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIF1A_chr2_240708767_240825219 | 240781069 | CCACACAC others(53): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0134 a0001c0004t0006g0135 |
2 | 330 | 0.0061 | -60 | c.882 others(77): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | |||||||
KIF1B_chr1_10205570_10386603 | 10352016 | TTCAGAAG others(53): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03098.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0038a0001c0001t0051 | a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0025 others(2): Show |
5 | 300 | 0.0167 | -60 | c.395 others(77): Show |
KIF1B | ENSG00000054523.20 | transcript | ENST00000676179.1 | protein_coding | 37/48 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104165735 | ATGCATAT others(53): Show |
A | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0274 | 1 | 374 | 0.0027 | -60 | c.924 others(77): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126923209 | TCTTCTTC others(53): Show |
T | intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0061 | 1 | 114 | 0.0088 | -60 | c.55+ others(77): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126974475 | GTTACACA others(53): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01099.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0017others(5): Show | a0001c0001t0003g0047 a0001c0001t0003g0104 a0001c0001t0010g0046 others(7): Show |
10 | 114 | 0.0877 | -60 | c.55+ others(77): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KLF12_chr13_73681089_74139404 | 73957015 | AGAAAGGA others(53): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061 | 1 | 120 | 0.0083 | -60 | c.34- others(77): Show |
KLF12 | ENSG00000118922.19 | transcript | ENST00000703967.1 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
KLHDC10_chr7_130065534_130140705 | 130079869 | TCTTCCTC others(53): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG01943.hp2 HG02280.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0030others(1): Show | a0001c0001t0015g0046 a0001c0001t0015g0047 a0001c0001t0015g0282 others(8): Show |
12 | 386 | 0.0311 | -60 | c.166 others(77): Show |
KLHDC10 | ENSG00000128607.14 | transcript | ENST00000335420.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KLHL11_chr17_41843518_41870423 | 41865493 | TGCGCCGC others(53): Show |
T | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0148 | 1 | 366 | 0.0027 | -60 | c.-18 others(69): Show |
KLHL11 | ENSG00000178502.6 | transcript | ENST00000319121.4 | protein_coding | 71 | chr17 | TogoVar | |||||||
KLHL22_chr22_20436519_20500795 | 20470807 | GATGGATG others(53): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02630.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 others(6): Show |
9 | 340 | 0.0265 | -60 | c.393 others(75): Show |
KLHL22 | ENSG00000099910.17 | transcript | ENST00000328879.9 | protein_coding | 3/6 | chr22 | TogoVar | |||||||
KLHL30_chr2_238133668_238157947 | 238144400 | AAGGAAGG others(53): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 450 | 0.0022 | -60 | c.908 others(75): Show |
KLHL30 | ENSG00000168427.9 | transcript | ENST00000409223.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLHL38_chr8_123639442_123658801 | 123642052 | GTGTAAGT others(53): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(276): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0008others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0023 others(92): Show |
279 | 446 | 0.6256 | -60 | c.*36 others(71): Show |
KLHL38 | ENSG00000175946.9 | transcript | ENST00000684634.1 | protein_coding | 2389 | chr8 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152307218 | GAAGGAAG others(53): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01361.hp2 HG01891.hp1 others(4): Show |
a0002 | a0002c0004a0002c0007 | a0002c0004t0002a0002c0007t0002 | a0002c0004t0002g0020 a0002c0004t0002g0024 a0002c0004t0002g0027 others(4): Show |
7 | 172 | 0.0407 | -60 | c.849 others(77): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | |||||||
KNL1_chr15_40589249_40669342 | 40662324 | TATGTTTT others(53): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18965.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0093 | 1 | 370 | 0.0027 | -60 | c.*13 others(69): Show |
KNL1 | ENSG00000137812.21 | transcript | ENST00000399668.7 | protein_coding | 26/26 | 137 | chr15 | TogoVar | ||||||
KPNA7_chr7_99168572_99213115 | 99181043 | CTCTCTCT others(53): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01891.hp1 HG01891.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0164 a0001c0001t0001g0171 others(1): Show |
4 | 334 | 0.0120 | -60 | c.131 others(77): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 9/10 | chr7 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29131696 | ATGTGTAT others(53): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG06807.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0054a0001c0001t0055 | a0001c0001t0035g0294 a0001c0001t0035g0299 a0001c0001t0054g0293 others(1): Show |
4 | 368 | 0.0109 | -60 | c.632 others(77): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KRTAP5-10_chr11_71560563_71571735 | 71565845 | CTGTGGGG others(53): Show |
C | disruptive_inframe_deletion | MODERATE | NA19089.hp1 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0000 | 1 | 468 | 0.0021 | -60 | c.303 others(67): Show |
p.Gly others(13): Show |
KRTAP5-10 | ENSG00000204572.10 | transcript | ENST00000398531.3 | protein_coding | 1/1 | 328/1173 | 303/609 | 101/202 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1630163 | CCTGTGGC others(53): Show |
C | disruptive_inframe_deletion | MODERATE | HG01943.hp2 HG02559.hp2 HG02622.hp1 others(4): Show |
a0010a0014a0018others(1): Show | a0010c0012a0014c0013a0018c0026others(1): Show | a0010c0012t0001a0014c0013t0003a0018c0026t0001others(1): Show | a0010c0012t0001g0000 a0014c0013t0003g0000 a0018c0026t0001g0000 others(1): Show |
7 | 445 | 0.0157 | -60 | c.390 others(67): Show |
p.Ser others(13): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 456/1156 | 390/714 | 130/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KSR2_chr12_117448012_117973990 | 117606437 | CTCCCCTC others(53): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00544.hp2 others(21): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0017a0001c0001t0022a0001c0001t0133others(20): Show | a0001c0001t0017g0155 a0001c0001t0022g0088 a0001c0001t0133g0154 others(21): Show |
24 | 196 | 0.1225 | -60 | c.117 others(81): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117794473 | CCAACATG others(53): Show |
C | intron_variant | MODIFIER | NA18906.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0111a0001c0001t0125 | a0001c0001t0111g0148 a0001c0001t0125g0174 |
2 | 196 | 0.0102 | -60 | c.473 others(79): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 5958100 | GAAGAAGA others(53): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0009 | 1 | 94 | 0.0106 | -60 | c.167 others(79): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 18/18 | chr18 | TogoVar | |||||||
LARP1B_chr4_128056312_128216988 | 128124358 | ACATAACC others(53): Show |
A | intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0120 | 1 | 336 | 0.0030 | -60 | c.152 others(79): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 11/19 | chr4 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136769219 | CCCCCCCG others(53): Show |
C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01346.hp1 HG02080.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 |
11 | 356 | 0.0309 | -60 | c.-47 others(71): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4702 | chr9 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136769230 | CCCCCCCA others(53): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01993.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 356 | 0.0140 | -60 | c.-48 others(71): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4713 | chr9 | TogoVar | |||||||
LCN15_chr9_136754634_136769518 | 136769450 | CACCCCCC others(53): Show |
C | upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 356 | 0.0028 | -60 | c.-50 others(71): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4933 | chr9 | TogoVar | |||||||
LDB2_chr4_16496541_16903645 | 16897895 | AATATATA others(53): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG03098.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(4): Show |
7 | 162 | 0.0432 | -60 | c.132 others(75): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
LDLRAD4_chr18_13213760_13657751 | 13262365 | CGGCCCTG others(53): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0095 others(18): Show |
21 | 178 | 0.1180 | -60 | c.-46 others(81): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LDLRAD4_chr18_13213760_13657751 | 13262528 | GGAAACTG others(53): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0095 others(18): Show |
21 | 178 | 0.1180 | -60 | c.-46 others(81): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LDLRAD4_chr18_13213760_13657751 | 13262639 | TCCGTGCG others(53): Show |
T | intron_variant | MODIFIER | HG03209.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0016 | a0001c0001t0010g0099 a0001c0001t0016g0111 |
2 | 178 | 0.0112 | -60 | c.-46 others(81): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LDLRAD4_chr18_13213760_13657751 | 13262768 | GGGGGCTG others(53): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0095 others(28): Show |
31 | 178 | 0.1742 | -60 | c.-46 others(81): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LGMN_chr14_92698809_92753627 | 92719239 | ACCACCGC others(53): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0189 | 1 | 420 | 0.0024 | -60 | c.139 others(75): Show |
LGMN | ENSG00000100600.15 | transcript | ENST00000334869.9 | protein_coding | 2/13 | chr14 | TogoVar | |||||||
LIAT1_chr17_405325_419666 | 413536 | CCTCAAGG others(53): Show |
C | conservative_inframe_deletion | MODERATE | HG02055.hp2 HG03540.hp1 NA18906.hp1 |
a0017 | a0017c0014 | a0017c0014t0001 | a0017c0014t0001g0014 a0017c0014t0001g0028 |
3 | 434 | 0.0069 | -60 | c.733 others(67): Show |
p.Ile others(13): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 2/2 | 751/1841 | 733/1272 | 245/423 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
LIAT1_chr17_405325_419666 | 413794 | TGACCCCG others(53): Show |
T | conservative_inframe_deletion | MODERATE | HG02055.hp2 HG03540.hp1 NA18906.hp1 |
a0017 | a0017c0014 | a0017c0014t0001 | a0017c0014t0001g0014 a0017c0014t0001g0028 |
3 | 434 | 0.0069 | -60 | c.988 others(68): Show |
p.Lys others(13): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 2/2 | 1006/1841 | 988/1272 | 330/423 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
LINGO2_chr9_27932617_29218601 | 28409911 | AGAGAGAA others(53): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0035 others(13): Show |
16 | 62 | 0.2581 | -60 | c.-22 others(81): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 4/6 | chr9 | TogoVar | |||||||
LIPG_chr18_49557057_49604185 | 49579001 | GGGGAGAG others(53): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0195 | 1 | 384 | 0.0026 | -60 | c.794 others(77): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LLGL2_chr17_75520697_75580209 | 75558826 | GCCTCCTC others(53): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG03486.hp2 |
a0001a0027 | a0001c0037a0027c0040 | a0001c0037t0001a0027c0040t0003 | a0001c0037t0001g0149 a0027c0040t0003g0188 |
2 | 382 | 0.0052 | -60 | c.371 others(75): Show |
LLGL2 | ENSG00000073350.14 | transcript | ENST00000392550.8 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LLGL2_chr17_75520697_75580209 | 75558844 | CCACCTCC others(53): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02976.hp2 HG04204.hp2 others(1): Show |
a0002 | a0002c0013a0002c0055 | a0002c0013t0003a0002c0055t0003 | a0002c0013t0003g0192 a0002c0013t0003g0196 a0002c0013t0003g0334 others(1): Show |
4 | 382 | 0.0105 | -60 | c.371 others(75): Show |
LLGL2 | ENSG00000073350.14 | transcript | ENST00000392550.8 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LLGL2_chr17_75520697_75580209 | 75558866 | GCCTCCTC others(53): Show |
G | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0024 | a0001c0024t0002 | a0001c0024t0002g0217 | 1 | 382 | 0.0026 | -60 | c.371 others(75): Show |
LLGL2 | ENSG00000073350.14 | transcript | ENST00000392550.8 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LMAN2_chr5_177326567_177356668 | 177326833 | GAAAGAAA others(53): Show |
G | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 376 | 0.0027 | -60 | c.*51 others(71): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4733 | chr5 | TogoVar | |||||||
LMAN2_chr5_177326567_177356668 | 177326845 | GAAAGAAA others(53): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01516.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0169 a0001c0001t0001g0185 others(2): Show |
5 | 376 | 0.0133 | -60 | c.*51 others(71): Show |
LMAN2 | ENSG00000169223.16 | transcript | ENST00000303127.12 | protein_coding | 4721 | chr5 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89323524 | GAGGGCAG others(53): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0048 | 1 | 366 | 0.0027 | -60 | c.10- others(75): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89323545 | AGGGCAGG others(53): Show |
A | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0086 | 1 | 366 | 0.0027 | -60 | c.10- others(75): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11493824 | AGGGGCAG others(53): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG02015.hp2 others(17): Show |
a0003a0005a0007others(12): Show | a0003c0002a0003c0096a0005c0145others(14): Show | a0003c0002t0001a0003c0096t0001a0005c0145t0003others(15): Show | a0003c0002t0001g0060 a0003c0002t0001g0073 a0003c0002t0001g0210 others(17): Show |
20 | 310 | 0.0645 | -60 | c.143 others(75): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11494019 | GGGGGCGG others(53): Show |
G | intron_variant | MODIFIER | HG03710.hp2 | a0077 | a0077c0080 | a0077c0080t0002 | a0077c0080t0002g0116 | 1 | 310 | 0.0032 | -60 | c.143 others(77): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | |||||||
LOC400499_chr16_11367015_11532247 | 11494061 | GGGCGGGG others(53): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0151 | a0151c0042 | a0151c0042t0006 | a0151c0042t0006g0034 | 1 | 310 | 0.0032 | -60 | c.143 others(77): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | |||||||
LPIN1_chr2_11741632_11832409 | 11784289 | GTGAGACT others(53): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0107 a0001c0001t0001g0123 a0001c0001t0001g0127 others(45): Show |
48 | 278 | 0.1727 | -60 | c.135 others(77): Show |
LPIN1 | ENSG00000134324.12 | transcript | ENST00000674199.1 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LRBA_chr4_150259435_151020284 | 150639753 | ATATATAT others(53): Show |
A | intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 180 | 0.0056 | -60 | c.592 others(81): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | |||||||
LRCH3_chr3_197786254_197893436 | 197869587 | CTGTACCT others(53): Show |
C | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0030 | 1 | 292 | 0.0034 | -60 | c.187 others(77): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRP2_chr2_169122109_169367534 | 169299070 | GGAAAGAA others(53): Show |
G | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0179 | 1 | 250 | 0.0040 | -60 | c.428 others(77): Show |
LRP2 | ENSG00000081479.15 | transcript | ENST00000649046.1 | protein_coding | 4/78 | chr2 | TogoVar | |||||||
LRP5_chr11_68307591_68454275 | 68348611 | GGTTGGCT others(53): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0092 | 1 | 212 | 0.0047 | -60 | c.488 others(75): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69717757 | TGAAAAAA others(53): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0002g0027 a0001c0001t0003g0041 a0001c0001t0011g0035 others(3): Show |
6 | 108 | 0.0556 | -60 | c.100 others(79): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |