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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H4C12_chr6_27826174_27836560 | 27827442 | ACCTCCCG others(91): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01361.hp1 HG01884.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 13 | 419 | 0.0310 | -98 | c.*36 others(109): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 3731 | chr6 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239068848 | ACACTTGC others(91): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(95): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0002a0001c0001t0001g0025a0001c0001t0001g0049others(95): Show | 98 | 242 | 0.4050 | -98 | c.275 others(115): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 22/26 | chr2 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43181082 | GGAGGGAG others(91): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 234 | 0.0086 | -98 | c.101 others(116): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
HMOX1_chr22_35376096_35399207 | 35389332 | TTCTTTCT others(91): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053a0001c0001t0002g0059a0001c0001t0002g0060others(2): Show | 5 | 384 | 0.0130 | -98 | c.637 others(113): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HSPBAP1_chr3_122734999_122798831 | 122780135 | AGCTGACC others(91): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01433.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0002c0002t0003a0003c0003t0003others(2): Show | a0001c0001t0002g0156a0001c0001t0002g0157a0001c0001t0002g0198others(14): Show | 17 | 350 | 0.0486 | -98 | c.65- others(113): Show |
HSPBAP1 | ENSG00000169087.11 | transcript | ENST00000306103.3 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
IGF2_chr11_2124117_2144389 | 2125181 | TTGGATGG others(91): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0148a0001c0001t0208 | a0001c0001t0148g0136a0001c0001t0208g0290 | 2 | 388 | 0.0052 | -98 | c.*77 others(109): Show |
IGF2 | ENSG00000167244.22 | transcript | ENST00000416167.7 | protein_coding | 3935 | chr11 | TogoVar | ||||||
IGF2_chr11_2124117_2144389 | 2125199 | GAGTGAGA others(91): Show |
G | downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0072 | 1 | 388 | 0.0026 | -98 | c.*76 others(109): Show |
IGF2 | ENSG00000167244.22 | transcript | ENST00000416167.7 | protein_coding | 3917 | chr11 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1367000 | GGGTGAGC others(91): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0107 | 1 | 115 | 0.0087 | -98 | c.874 others(115): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
INPP5F_chr10_119721050_119834147 | 119722321 | CGCCCGGC others(91): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(157): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(18): Show | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0028others(157): Show | 160 | 328 | 0.4878 | -98 | c.-39 others(109): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 3728 | chr10 | TogoVar | ||||||
INPP5F_chr10_119721050_119834147 | 119722370 | CGCCCGGC others(91): Show |
C | upstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 328 | 0.0031 | -98 | c.-38 others(109): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 3679 | chr10 | TogoVar | ||||||
INPP5F_chr10_119721050_119834147 | 119794652 | ACCCCCCA others(91): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0003 | 1 | 328 | 0.0031 | -98 | c.670 others(115): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
IQCA1_chr2_236319151_236512476 | 236491120 | TGTGTATA others(91): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0006 | a0006c0009 | a0006c0009t0005 | a0006c0009t0005g0136 | 1 | 208 | 0.0048 | -98 | c.456 others(115): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 3/18 | chr2 | TogoVar | ||||||
IRS2_chr13_109747695_109791583 | 109765691 | AACTCCCC others(91): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00642.hp1 others(9): Show |
a0001a0003 | a0001c0004a0001c0005a0003c0010 | a0001c0004t0019a0001c0005t0010a0001c0005t0023others(1): Show | a0001c0004t0019g0044a0001c0004t0019g0244a0001c0005t0010g0012others(6): Show | 12 | 398 | 0.0302 | -98 | c.401 others(117): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
IRS2_chr13_109747695_109791583 | 109766328 | AACTCCCC others(91): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG01943.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0015a0001c0004t0015a0001c0004t0046 | a0001c0001t0015g0106a0001c0004t0015g0249a0001c0004t0015g0250others(1): Show | 4 | 398 | 0.0101 | -98 | c.401 others(119): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
IRS2_chr13_109747695_109791583 | 109766586 | GCATGTAG others(91): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0007 | a0001c0007t0011 | a0001c0007t0011g0051 | 1 | 398 | 0.0025 | -98 | c.401 others(119): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
ISYNA1_chr19_18429388_18443133 | 18437344 | GGGGTCCG others(91): Show |
G | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 308 | 0.0033 | -98 | c.282 others(113): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 3/10 | chr19 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737649 | TATATTAT others(91): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG02080.hp2 HG02135.hp1 others(19): Show |
a0002 | a0002c0003a0002c0020 | a0002c0003t0001a0002c0020t0001 | a0002c0003t0001g0003a0002c0003t0001g0032a0002c0003t0001g0147others(18): Show | 22 | 380 | 0.0579 | -98 | c.195 others(115): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7737660 | CTATATTA others(91): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0354 | 1 | 380 | 0.0026 | -98 | c.195 others(115): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITSN2_chr2_24197864_24365536 | 24251371 | GTATATAT others(91): Show |
G | intron_variant | MODIFIER | HG02717.hp2 NA18959.hp2 |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0001a0008c0013t0001 | a0001c0001t0001g0033a0008c0013t0001g0198 | 2 | 224 | 0.0089 | -98 | c.312 others(115): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | ||||||
ITSN2_chr2_24197864_24365536 | 24251375 | ATATGTAT others(91): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0158 | 1 | 224 | 0.0045 | -98 | c.312 others(115): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | ||||||
ITSN2_chr2_24197864_24365536 | 24251387 | ATATATAT others(91): Show |
A | intron_variant | MODIFIER | HG03453.hp1 HG03710.hp2 NA18945.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0074others(4): Show | 7 | 224 | 0.0313 | -98 | c.312 others(115): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87614700 | GGGATAAA others(91): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0356 | 1 | 380 | 0.0026 | -98 | c.382 others(117): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
JPH3_chr16_87597508_87703156 | 87614842 | TTCCCGGG others(91): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01346.hp1 HG02818.hp1 |
a0001 | a0001c0008a0001c0009 | a0001c0008t0001a0001c0009t0001 | a0001c0008t0001g0313a0001c0008t0001g0370a0001c0009t0001g0371 | 3 | 380 | 0.0079 | -98 | c.382 others(117): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 15048657 | GTCCTGGG others(91): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03471.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041a0002c0002t0001g0084 | 2 | 146 | 0.0137 | -98 | c.726 others(115): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1990608 | CGGGGCCT others(91): Show |
C | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 389 | 0.0026 | -98 | c.-90 others(117): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
KBTBD11_chr8_1968677_2011936 | 1990943 | CCTTGGCG others(91): Show |
C | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 389 | 0.0026 | -98 | c.-90 others(117): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNA5_chr12_5038879_5051788 | 5050919 | CTGTCCTG others(91): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 452 | 0.0022 | -98 | c.*49 others(109): Show |
KCNA5 | ENSG00000130037.5 | transcript | ENST00000252321.5 | protein_coding | 4132 | chr12 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21757155 | GAAAGAAA others(91): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 80 | 0.0125 | -98 | c.61+ others(117): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21757175 | GAAGGAAG others(91): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0023 | 1 | 80 | 0.0125 | -98 | c.61+ others(117): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KDELR1_chr19_48377575_48396551 | 48388657 | TCTGGGCA others(91): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0109 | 2 | 432 | 0.0046 | -98 | c.351 others(113): Show |
KDELR1 | ENSG00000105438.9 | transcript | ENST00000330720.7 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112514950 | TGCCCGGC others(91): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0071 | a0001c0001t0002g0121a0001c0002t0071g0013 | 2 | 308 | 0.0065 | -98 | c.-25 others(117): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 168013642 | ACTGCAGG others(91): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 |
a0001a0012 | a0001c0001a0012c0014 | a0001c0001t0010a0012c0014t0010 | a0001c0001t0010g0256a0012c0014t0010g0255 | 2 | 375 | 0.0053 | -98 | c.-16 others(117): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KIF4A_chrX_70285104_70425886 | 70373550 | ATATATAC others(91): Show |
A | intron_variant | MODIFIER | HG02165.hp1 HG04184.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0243a0001c0003t0001g0046 | 2 | 259 | 0.0077 | -98 | c.167 others(115): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KRT16_chr17_41604778_41617767 | 41614853 | CTCTGAGA others(91): Show |
C | upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 398 | 0.0025 | -98 | c.-22 others(109): Show |
KRT16 | ENSG00000186832.9 | transcript | ENST00000301653.9 | protein_coding | 2087 | chr17 | TogoVar | ||||||
KRTAP5-11_chr11_71576855_71587875 | 71577593 | ACTCACAC others(91): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01243.hp2 others(30): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0003a0004c0004t0003 | a0001c0001t0001g0000a0002c0002t0003g0000a0004c0004t0003g0000 | 33 | 464 | 0.0711 | -98 | c.*46 others(109): Show |
KRTAP5-11 | ENSG00000204571.7 | transcript | ENST00000398530.1 | protein_coding | 4261 | chr11 | TogoVar | ||||||
KRTAP5-11_chr11_71576855_71587875 | 71584625 | CCCCCCGC others(91): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG03516.hp1 NA20300.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 3 | 464 | 0.0065 | -98 | c.-18 others(109): Show |
KRTAP5-11 | ENSG00000204571.7 | transcript | ENST00000398530.1 | protein_coding | 1751 | chr11 | TogoVar | ||||||
LCN1_chr9_135516440_135531540 | 135527975 | GTGCCTCG others(91): Show |
G | downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 436 | 0.0023 | -98 | c.*16 others(109): Show |
LCN1 | ENSG00000160349.10 | transcript | ENST00000371781.4 | protein_coding | 1436 | chr9 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104817949 | CCAATGTA others(91): Show |
C | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0023 | 1 | 86 | 0.0116 | -98 | c.682 others(117): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124507352 | TGTGGAGG others(91): Show |
T | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 260 | 0.0039 | -98 | c.624 others(115): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
LOC400499_chr16_11367015_11532247 | 11493939 | GGGGGCGG others(91): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02280.hp2 HG02486.hp2 others(4): Show |
a0062a0063a0112others(4): Show | a0062c0123a0063c0124a0112c0134others(4): Show | a0062c0123t0004a0063c0124t0004a0112c0134t0002others(4): Show | a0062c0123t0004g0166a0063c0124t0004g0013a0112c0134t0002g0090others(4): Show | 7 | 310 | 0.0226 | -98 | c.143 others(115): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | ||||||
LONRF3_chrX_118969618_119023355 | 118969808 | GCTAACTT others(91): Show |
G | upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 309 | 0.0032 | -98 | c.-49 others(109): Show |
LONRF3 | ENSG00000175556.17 | transcript | ENST00000371628.8 | protein_coding | 4809 | chrX | TogoVar | ||||||
LRBA_chr4_150259435_151020284 | 150639736 | AATATATA others(91): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0123 | 1 | 180 | 0.0056 | -98 | c.592 others(119): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | ||||||
LRFN5_chr14_41601876_41909549 | 41673776 | GGGGCGGC others(91): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0269a0001c0001t0010g0270 | 2 | 280 | 0.0071 | -98 | c.-19 others(119): Show |
LRFN5 | ENSG00000165379.14 | transcript | ENST00000298119.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
LRFN5_chr14_41601876_41909549 | 41674513 | TCCACCTC others(91): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0269a0001c0001t0010g0270 | 2 | 280 | 0.0071 | -98 | c.-19 others(119): Show |
LRFN5 | ENSG00000165379.14 | transcript | ENST00000298119.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
LRP2_chr2_169122109_169367534 | 169327105 | CGGCCAGC others(91): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0009 | a0009c0107 | a0009c0107t0003 | a0009c0107t0003g0109 | 1 | 250 | 0.0040 | -98 | c.80- others(113): Show |
LRP2 | ENSG00000081479.15 | transcript | ENST00000649046.1 | protein_coding | 1/78 | chr2 | TogoVar | ||||||
LRP2_chr2_169122109_169367534 | 169328201 | GCCCCGCC others(91): Show |
G | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0006 | 1 | 250 | 0.0040 | -98 | c.80- others(113): Show |
LRP2 | ENSG00000081479.15 | transcript | ENST00000649046.1 | protein_coding | 1/78 | chr2 | TogoVar | ||||||
LRP2_chr2_169122109_169367534 | 169328216 | CCGCCCCG others(91): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01099.hp2 others(1): Show |
a0002a0007 | a0002c0036a0002c0166a0007c0032 | a0002c0036t0001a0002c0166t0014a0007c0032t0008 | a0002c0036t0001g0111a0002c0036t0001g0118a0002c0166t0014g0112others(1): Show | 4 | 250 | 0.0160 | -98 | c.80- others(113): Show |
LRP2 | ENSG00000081479.15 | transcript | ENST00000649046.1 | protein_coding | 1/78 | chr2 | TogoVar | ||||||
LRRC4C_chr11_40109209_41464652 | 41304775 | GTCAGCCC others(91): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0028a0001c0001t0001g0038a0001c0001t0002g0016others(2): Show | 5 | 48 | 0.1042 | -98 | c.-49 others(121): Show |
LRRC4C | ENSG00000148948.8 | transcript | ENST00000528697.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
LRRK2_chr12_40219997_40374285 | 40247650 | GTATATAA others(91): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(94): Show |
a0001a0002a0003others(8): Show | a0001c0008a0002c0001a0002c0009others(12): Show | a0001c0008t0002a0002c0001t0001a0002c0001t0004others(19): Show | a0001c0008t0002g0119a0002c0001t0001g0004a0002c0001t0001g0005others(94): Show | 97 | 382 | 0.2539 | -98 | c.839 others(115): Show |
LRRK2 | ENSG00000188906.17 | transcript | ENST00000298910.12 | protein_coding | 7/50 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 25030897 | ATATATAT others(91): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01106.hp1 others(36): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0016others(36): Show | 39 | 116 | 0.3362 | -98 | c.766 others(117): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |