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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LTBP1_chr2_32941953_33404509 | 33324257 | TATTGTTA others(14): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01884.hp1 HG02257.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0003a0001c0001t0020a0001c0002t0014others(11): Show | a0001c0001t0003g0129 a0001c0001t0003g0139 a0001c0001t0003g0141 others(13): Show |
16 | 162 | 0.0988 | -21 | c.373 others(40): Show |
LTBP1 | ENSG00000049323.16 | transcript | ENST00000404816.7 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LTBP4_chr19_40596369_40634818 | 40625275 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0049 | 1 | 320 | 0.0031 | -21 | c.383 others(38): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | chr19 | TogoVar | |||||||
LTBP4_chr19_40596369_40634818 | 40625281 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0262 | 1 | 328 | 0.0030 | -21 | c.383 others(38): Show |
LTBP4 | ENSG00000090006.18 | transcript | ENST00000396819.8 | protein_coding | 26/29 | chr19 | TogoVar | |||||||
LTC4S_chr5_179788986_179801647 | 179791100 | GTTTTTTT others(14): Show |
G | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 9 | 0.1111 | -21 | c.-29 others(32): Show |
LTC4S | ENSG00000213316.10 | transcript | ENST00000292596.15 | protein_coding | 2885 | chr5 | TogoVar | |||||||
LTF_chr3_46430645_46469905 | 46441971 | GTGTGTGT others(14): Show |
G | intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0132 | 1 | 426 | 0.0023 | -21 | c.165 others(38): Show |
LTF | ENSG00000012223.13 | transcript | ENST00000231751.9 | protein_coding | 13/16 | chr3 | TogoVar | |||||||
LUC7L2_chr7_139354894_139428454 | 139379549 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 |
3 | 21 | 0.1429 | -21 | c.156 others(38): Show |
LUC7L2 | ENSG00000146963.18 | transcript | ENST00000354926.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24652029 | ATATATGT others(14): Show |
A | intron_variant | MODIFIER | HG06807.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0001 a0001c0001t0004g0105 |
2 | 116 | 0.0172 | -21 | c.63- others(38): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LVRN_chr5_115957475_116032606 | 115960071 | TTGGCAGG others(14): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0002a0001c0004others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(53): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0023 others(254): Show |
299 | 416 | 0.7188 | -21 | c.-25 others(32): Show |
LVRN | ENSG00000172901.21 | transcript | ENST00000357872.9 | protein_coding | 2403 | chr5 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143014639 | CGTGTGAG others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG00741.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 others(2): Show |
35 | 374 | 0.0936 | -21 | c.-40 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3889 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143014667 | GGAGGAGG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 3 | 375 | 0.0080 | -21 | c.-39 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3861 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143014684 | TGTGTGAG others(14): Show |
T | upstream_gene_variant | MODIFIER | HG02135.hp1 HG02257.hp2 NA18953.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0001 a0001c0001t0004g0004 |
9 | 370 | 0.0243 | -21 | c.-39 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3844 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143014747 | CGTGTGAG others(14): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 358 | 0.0056 | -21 | c.-38 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3781 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143014792 | TGTGTGAG others(14): Show |
T | upstream_gene_variant | MODIFIER | HG02922.hp2 HG03209.hp1 HG03471.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0007 | a0001c0001t0003g0004 a0002c0003t0007g0004 |
4 | 375 | 0.0107 | -21 | c.-38 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3736 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143014811 | GCCGTGTG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show |
47 | 235 | 0.2000 | -21 | c.-38 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3717 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143014942 | CATGTGAG others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 375 | 0.0053 | -21 | c.-37 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3586 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143015201 | GCTGTGTG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 351 | 0.0028 | -21 | c.-34 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3327 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143015285 | CCCGTGTG others(14): Show |
C | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0004 | 1 | 373 | 0.0027 | -21 | c.-33 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3243 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143015330 | ATGTGAGG others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 336 | 0.0030 | -21 | c.-33 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3198 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143015350 | TGTGTGAG others(14): Show |
T | upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 375 | 0.0027 | -21 | c.-32 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3178 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143015479 | TGTGTGAG others(14): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 357 | 0.0028 | -21 | c.-31 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3049 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143015521 | CGTGTGAG others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(107): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(15): Show |
110 | 372 | 0.2957 | -21 | c.-31 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3007 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143015815 | AGGAGGGA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 376 | 0.0053 | -21 | c.-28 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 2713 | chr8 | TogoVar | |||||||
LY6E_chr8_143013529_143027409 | 143026403 | GGAGAGGA others(14): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(28): Show |
221 | 376 | 0.5878 | -21 | c.*46 others(32): Show |
LY6E | ENSG00000160932.11 | transcript | ENST00000292494.11 | protein_coding | 3995 | chr8 | TogoVar | |||||||
LY86_chr6_6583720_6659982 | 6600587 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG02027.hp1 HG02129.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0084 a0001c0001t0001g0357 a0001c0001t0001g0361 others(8): Show |
11 | 19 | 0.5789 | -21 | c.136 others(40): Show |
LY86 | ENSG00000112799.9 | transcript | ENST00000230568.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LY9_chr1_160791174_160833255 | 160828884 | GAAAGAAA others(14): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG02055.hp1 others(2): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0039 a0003c0003t0001g0021 a0003c0003t0001g0034 |
5 | 383 | 0.0131 | -21 | c.*10 others(32): Show |
LY9 | ENSG00000122224.18 | transcript | ENST00000263285.11 | protein_coding | 630 | chr1 | TogoVar | |||||||
LY9_chr1_160791174_160833255 | 160828888 | GAAAGAAA others(14): Show |
G | downstream_gene_variant | MODIFIER | HG02056.hp2 HG03654.hp2 HG03834.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0045 a0001c0001t0001g0214 others(6): Show |
9 | 386 | 0.0233 | -21 | c.*10 others(32): Show |
LY9 | ENSG00000122224.18 | transcript | ENST00000263285.11 | protein_coding | 634 | chr1 | TogoVar | |||||||
LYG2_chr2_99237246_99260666 | 99254409 | AAGATAGT others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(98): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(66): Show |
101 | 424 | 0.2382 | -21 | c.-25 others(36): Show |
LYG2 | ENSG00000185674.10 | transcript | ENST00000333017.7 | protein_coding | 2/6 | chr2 | TogoVar | |||||||
LYL1_chr19_13094033_13107858 | 13101860 | GCTGACCC others(14): Show |
G | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 364 | 0.0027 | -21 | c.-25 others(36): Show |
LYL1 | ENSG00000104903.5 | transcript | ENST00000264824.5 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
LYPD4_chr19_41832074_41849683 | 41843057 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02486.hp2 others(14): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0014 others(6): Show |
17 | 426 | 0.0399 | -21 | c.-12 others(38): Show |
LYPD4 | ENSG00000273111.6 | transcript | ENST00000609812.6 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
LYPD4_chr19_41832074_41849683 | 41843058 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG03195.hp2 NA19030.hp1 |
a0003 | a0003c0004 | a0003c0004t0012 | a0003c0004t0012g0049 a0003c0004t0012g0050 |
2 | 421 | 0.0048 | -21 | c.-12 others(38): Show |
LYPD4 | ENSG00000273111.6 | transcript | ENST00000609812.6 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
LYPLA1_chr8_54041367_54106947 | 54042034 | ATTAAAGC others(14): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01071.hp2 others(51): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0227 others(49): Show |
54 | 304 | 0.1776 | -21 | c.*60 others(32): Show |
LYPLA1 | ENSG00000120992.18 | transcript | ENST00000316963.8 | protein_coding | 4332 | chr8 | TogoVar | |||||||
LYST_chr1_235656041_235871906 | 235799928 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 16 | 0.0625 | -21 | c.400 others(38): Show |
LYST | ENSG00000143669.16 | transcript | ENST00000389793.7 | protein_coding | 10/52 | chr1 | TogoVar | |||||||
LZTFL1_chr3_45818316_45847119 | 45822648 | TGCTTTTA others(14): Show |
T | downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004 | 1 | 387 | 0.0026 | -21 | c.*36 others(32): Show |
LZTFL1 | ENSG00000163818.20 | transcript | ENST00000296135.11 | protein_coding | 667 | chr3 | TogoVar | |||||||
MAB21L1_chr13_35468789_35481689 | 35476296 | CCTGCTGC others(14): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02056.hp2 HG02965.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0031 | a0001c0001t0030g0000 a0001c0001t0031g0000 |
4 | 48 | 0.0833 | -21 | c.-17 others(30): Show |
MAB21L1 | ENSG00000180660.9 | transcript | ENST00000379919.6 | protein_coding | 1/1 | 159 | chr13 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39360007 | AAAAAAAT others(14): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0053 | a0053c0076 | a0053c0076t0003 | a0053c0076t0003g0222 | 1 | 232 | 0.0043 | -21 | c.122 others(40): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 47/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACO1_chr1_25425897_25505209 | 25480930 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG01884.hp2 HG02615.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0028others(1): Show | a0001c0001t0002g0008 a0001c0001t0002g0075 a0001c0001t0002g0099 others(7): Show |
10 | 246 | 0.0407 | -21 | c.115 others(40): Show |
MACO1 | ENSG00000204178.11 | transcript | ENST00000374343.5 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
MACROD2_chr20_13990516_16058197 | 14186171 | TAGAGAAT others(14): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 24 | 0.0417 | -21 | c.271 others(42): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 15403425 | AAGGAGGA others(14): Show |
A | intron_variant | MODIFIER | HG03486.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0014 a0001c0001t0011g0009 |
2 | 24 | 0.0833 | -21 | c.541 others(40): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MACROH2A1_chr5_135329381_135404231 | 135351543 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 31 | 0.0323 | -21 | c.688 others(38): Show |
MACROH2A1 | ENSG00000113648.17 | transcript | ENST00000511689.6 | protein_coding | 6/8 | chr5 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1296441 | TCCTCACC others(14): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG03516.hp2 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0001a0001c0014t0001 | a0001c0002t0001g0292 a0001c0014t0001g0291 |
2 | 386 | 0.0052 | -21 | c.69+ others(36): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAEA_chr4_1284891_1345137 | 1303924 | GGGGGGTC others(14): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(114): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(9): Show | a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 others(114): Show |
117 | 386 | 0.3031 | -21 | c.70- others(36): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAGEL2_chr15_23638549_23652867 | 23646336 | TGGGGCCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | NA19043.hp2 | a0031 | a0031c0024 | a0031c0024t0001 | a0031c0024t0001g0000 | 1 | 434 | 0.0023 | -21 | c.138 others(30): Show |
p.Ala others(13): Show |
MAGEL2 | ENSG00000254585.5 | transcript | ENST00000650528.1 | protein_coding | 1/1 | 1531/4319 | 1386/3750 | 462/1249 | chr15 | TogoVar | |||
MAGEL2_chr15_23638549_23652867 | 23646357 | GGGGGCCT others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG03490.hp1 HG03688.hp1 |
a0014 | a0014c0015 | a0014c0015t0001 | a0014c0015t0001g0000 | 2 | 434 | 0.0046 | -21 | c.136 others(30): Show |
p.Pro others(13): Show |
MAGEL2 | ENSG00000254585.5 | transcript | ENST00000650528.1 | protein_coding | 1/1 | 1510/4319 | 1365/3750 | 455/1249 | chr15 | TogoVar | |||
MAGEL2_chr15_23638549_23652867 | 23646456 | CGGTGGTG others(14): Show |
C | disruptive_inframe_deletion | MODERATE | NA18957.hp2 | a0028 | a0028c0033 | a0028c0033t0001 | a0028c0033t0001g0000 | 1 | 434 | 0.0023 | -21 | c.126 others(30): Show |
p.Ile others(13): Show |
MAGEL2 | ENSG00000254585.5 | transcript | ENST00000650528.1 | protein_coding | 1/1 | 1411/4319 | 1266/3750 | 422/1249 | chr15 | TogoVar | |||
MAGI1_chr3_65348526_66043918 | 65959601 | TTTATTAT others(14): Show |
T | intron_variant | MODIFIER | HG02486.hp2 NA18906.hp1 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0099 a0004c0004t0001g0090 |
2 | 66 | 0.0303 | -21 | c.313 others(40): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78453780 | GGGAGGCT others(14): Show |
G | intron_variant | MODIFIER | HG00639.hp2 NA19030.hp2 |
a0001 | a0001c0003a0001c0010 | a0001c0003t0002a0001c0010t0002 | a0001c0003t0002g0012 a0001c0010t0002g0021 |
2 | 40 | 0.0500 | -21 | c.104 others(42): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 6/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78903172 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02965.hp1 NA19240.hp1 |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0001a0001c0003t0006a0001c0007t0001 | a0001c0002t0001g0024 a0001c0003t0006g0032 a0001c0007t0001g0040 |
3 | 6 | 0.5000 | -21 | c.418 others(42): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79077583 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0016 | 1 | 40 | 0.0250 | -21 | c.302 others(40): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79148834 | CATATATG others(14): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0001 | 1 | 40 | 0.0250 | -21 | c.302 others(42): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MAGI3_chr1_113385515_113690923 | 113437843 | TTCTTCTT others(14): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01433.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0049 a0001c0001t0001g0166 a0001c0001t0001g0181 others(4): Show |
7 | 234 | 0.0299 | -21 | c.316 others(40): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |