| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LOC101059915_chrX_71662546_71676527 | 71668682 | G | GT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.879 others(8): Show |
p.Val others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 1138/1990 | 880/1557 | 294/518 | chrX | TogoVar | ||
| LOC101059915_chrX_71662546_71676527 | 71668839 | C | CG | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.103 others(10): Show |
p.Gln others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 1295/1990 | 1037/1557 | 346/518 | chrX | TogoVar | ||
| LOC101059915_chrX_71662546_71676527 | 71669593 | C | CCT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 2 | c.127 others(11): Show |
p.Val others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 2/6 | 1531/1990 | 1273/1557 | 425/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71669672 | C | CT | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 1 | c.135 others(5): Show |
p.Thr others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 2/6 | 1612/1990 | 1354/1557 | 452/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC101059915_chrX_71662546_71676527 | 71669679 | T | TTC | frameshift_variant | HIGH | NA18968.hp2 | a0005 | a0005c0021 | a0005c0021t0004 | a0005c0021t0004g0013 | 1 | 340 | 0.0029 | 2 | c.135 others(11): Show |
p.Leu others(5): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 2/6 | 1617/1990 | 1359/1557 | 453/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LOC102725191_chr7_12499441_12546270 | 12523234 | G | GA | frameshift_variant | HIGH | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(120): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(95): Show | 123 | 422 | 0.2915 | 1 | c.274 others(4): Show |
p.Ile others(4): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 2/6 | 378/1221 | 275/771 | 92/256 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| LOC122319696_chrX_149409877_149420506 | 149415054 | T | TA | frameshift_variant | HIGH | NA19059.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0011 | 1 | 313 | 0.0032 | 1 | c.236 others(4): Show |
p.Arg others(4): Show |
LOC122319696 | ENSG00000287585.2 | transcript | ENST00000653668.2 | protein_coding | 2/2 | 265/443 | 236/285 | 79/94 | chrX | TogoVar | ||
| LOC122319696_chrX_149409877_149420506 | 149415076 | CT | C | frameshift_variant | HIGH | NA18939.hp1 NA18991.hp1 NA19011.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 3 | 313 | 0.0096 | -1 | c.214 others(4): Show |
p.Ser others(4): Show |
LOC122319696 | ENSG00000287585.2 | transcript | ENST00000653668.2 | protein_coding | 2/2 | 243/443 | 214/285 | 72/94 | chrX | TogoVar | ||
| LOC122455342_chr17_76563797_76574648 | 76569083 | T | TG | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG00741.hp1 others(18): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0000a0002c0004t0000 | a0002c0003t0000g0000a0002c0004t0000g0000 | 21 | 440 | 0.0477 | 1 | c.565 others(4): Show |
p.His others(5): Show |
LOC122455342 | ENSG00000284526.3 | transcript | ENST00000713548.1 | protein_coding | 1/1 | 565/852 | 565/852 | 189/283 | chr17 | TogoVar | ||
| LOC122513141_chr9_137212494_137224361 | 137218332 | CCGCAACC others(235): Show |
C | frameshift_variant | HIGH | HG01243.hp2 | a0000 | a0000c0012 | a0000c0012t0002 | a0000c0012t0002g0000 | 1 | 390 | 0.0026 | -242 | c.339 others(7): Show |
p.Asn others(5): Show |
LOC122513141 | ENSG00000284976.2 | transcript | ENST00000645271.2 | protein_coding | 1/1 | 842/1868 | 339/606 | 113/201 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| LOC122513141_chr9_137212494_137224361 | 137218467 | GGAGCGGG others(28): Show |
G | frameshift_variant | HIGH | HG02559.hp2 HG02717.hp1 |
a0004 | a0004c0008 | a0004c0008t0007 | a0004c0008t0007g0000 | 2 | 390 | 0.0051 | -35 | c.476 others(42): Show |
p.Arg others(5): Show |
LOC122513141 | ENSG00000284976.2 | transcript | ENST00000645271.2 | protein_coding | 1/1 | 979/1868 | 476/606 | 159/201 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| LOC122526780_chr17_6631780_6645316 | 6638676 | T | TGCCTCGG others(48): Show |
frameshift_variant | HIGH | HG02109.hp1 | a0016 | a0016c0023 | a0016c0023t0000 | a0016c0023t0000g0000 | 1 | 428 | 0.0023 | 55 | c.158 others(64): Show |
p.Val others(5): Show |
LOC122526780 | ENSG00000282936.3 | transcript | ENST00000713584.1 | protein_coding | 1/1 | 1640/3537 | 1640/3537 | 547/1178 | chr17 | TogoVar | ||
| LONRF3_chrX_118969618_119023355 | 118990510 | A | AC | frameshift_variant | HIGH | NA18972.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0033 | 1 | 309 | 0.0032 | 1 | c.136 others(5): Show |
p.Leu others(5): Show |
LONRF3 | ENSG00000175556.17 | transcript | ENST00000371628.8 | protein_coding | 5/11 | 1531/3108 | 1368/2280 | 456/759 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LONRF3_chrX_118969618_119023355 | 119014238 | G | GA | frameshift_variant | HIGH | NA19083.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0256 | 1 | 309 | 0.0032 | 1 | c.200 others(5): Show |
p.Leu others(5): Show |
LONRF3 | ENSG00000175556.17 | transcript | ENST00000371628.8 | protein_coding | 10/11 | 2171/3108 | 2008/2280 | 670/759 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LONRF3_chrX_118969618_119023355 | 119017604 | CT | C | frameshift_variant | HIGH | NA18953.hp1 | a0005 | a0005c0010 | a0005c0010t0007 | a0005c0010t0007g0176 | 1 | 309 | 0.0032 | -1 | c.219 others(5): Show |
p.Leu others(5): Show |
LONRF3 | ENSG00000175556.17 | transcript | ENST00000371628.8 | protein_coding | 11/11 | 2358/3108 | 2195/2280 | 732/759 | chrX | TogoVar | ||
| LOXL4_chr10_98242690_98273194 | 98256880 | A | AC | frameshift_variant | HIGH | HG00597.hp2 HG02055.hp1 HG02970.hp1 others(5): Show |
a0005a0006a0017 | a0005c0007a0006c0017a0006c0018others(2): Show | a0005c0007t0001a0006c0017t0001a0006c0018t0001others(2): Show | a0005c0007t0001g0131a0005c0007t0001g0154a0005c0007t0001g0159others(5): Show | 8 | 438 | 0.0183 | 1 | c.132 others(5): Show |
p.Val others(5): Show |
LOXL4 | ENSG00000138131.4 | transcript | ENST00000260702.4 | protein_coding | 9/15 | 1422/3597 | 1327/2271 | 443/756 | chr10 | TogoVar | ||
| LPA_chr6_160526482_160669275 | 160644847 | G | GCATTTGG others(38815): Show |
frameshift_variant others(2): Show |
HIGH | HG02818.hp2 | a0033 | a0033c0053 | a0033c0053t0001 | a0033c0053t0001g0111 | 1 | 148 | 0.0068 | 38822 | c.550 others(38829): Show |
p.Ala others(5): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 4/39 | 611/6431 | 550/6123 | 184/2040 | chr6 | TogoVar | ||
| LRCH2_chrX_115105616_115239096 | 115149849 | T | TG | frameshift_variant | HIGH | NA19067.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0206 | 1 | 238 | 0.0042 | 1 | c.167 others(5): Show |
p.Gln others(5): Show |
LRCH2 | ENSG00000130224.15 | transcript | ENST00000317135.13 | protein_coding | 14/21 | 1727/4953 | 1672/2298 | 558/765 | chrX | TogoVar | ||
| LRCH2_chrX_115105616_115239096 | 115188313 | AG | A | frameshift_variant | HIGH | HG01069.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0102 | 1 | 238 | 0.0042 | -1 | c.406 others(4): Show |
p.Glu others(5): Show |
LRCH2 | ENSG00000130224.15 | transcript | ENST00000317135.13 | protein_coding | 2/21 | 461/4953 | 406/2298 | 136/765 | chrX | TogoVar | ||
| LRRC34_chr3_169788003_169817904 | 169796284 | TAAAGG | T | frameshift_variant | HIGH | HG01255.hp2 HG02258.hp1 HG02896.hp2 others(4): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0007a0005c0005t0001g0086a0005c0005t0001g0087 | 7 | 322 | 0.0217 | -5 | c.989 others(12): Show |
p.Ser others(5): Show |
LRRC34 | ENSG00000171757.17 | transcript | ENST00000446859.7 | protein_coding | 9/11 | 1349/2383 | 989/1395 | 330/464 | chr3 | TogoVar | ||
| LRRC45_chr17_82018305_82036151 | 82028065 | GGGGGAGC others(34): Show |
G | frameshift_variant | HIGH | HG03710.hp1 | a0009 | a0009c0017 | a0009c0017t0002 | a0009c0017t0002g0001 | 1 | 408 | 0.0025 | -41 | c.968 others(49): Show |
p.Gly others(5): Show |
LRRC45 | ENSG00000169683.8 | transcript | ENST00000306688.8 | protein_coding | 9/17 | 1307/2698 | 968/2013 | 323/670 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| LRRC57_chr15_42532829_42553793 | 42544097 | T | TCTTGGTG others(9): Show |
frameshift_variant | HIGH | HG01515.hp1 | a0000 | a0000c0004 | a0000c0004t0117 | a0000c0004t0117g0046 | 1 | 356 | 0.0028 | 16 | c.690 others(23): Show |
p.Lys others(5): Show |
LRRC57 | ENSG00000180979.10 | transcript | ENST00000397130.8 | protein_coding | 6/6 | 828/7097 | 705/720 | 235/239 | chr15 | TogoVar | ||
| LRRC58_chr3_120319509_120354354 | 120349126 | G | GGGCCGCA others(27): Show |
frameshift_variant | HIGH | HG01433.hp2 | a0004 | a0004c0011 | a0004c0011t0062 | a0004c0011t0062g0192 | 1 | 376 | 0.0027 | 34 | c.117 others(41): Show |
p.Arg others(4): Show |
LRRC58 | ENSG00000163428.4 | transcript | ENST00000295628.4 | protein_coding | 1/4 | 228/7918 | 117/1116 | 39/371 | chr3 | TogoVar | ||
| LRRC71_chr1_156915632_156938094 | 156924955 | TGACCGAT others(21): Show |
T | frameshift_variant | HIGH | NA19089.hp1 | a0011 | a0011c0017 | a0011c0017t0004 | a0011c0017t0004g0289 | 1 | 402 | 0.0025 | -28 | c.536 others(35): Show |
p.Thr others(5): Show |
LRRC71 | ENSG00000160838.14 | transcript | ENST00000337428.8 | protein_coding | 5/15 | 708/1977 | 536/1680 | 179/559 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| LRRIQ1_chr12_85031351_85250105 | 85244867 | GA | G | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(50): Show |
a0002a0003a0004others(1): Show | a0002c0003a0003c0004a0004c0008others(2): Show | a0002c0003t0001a0003c0004t0001a0004c0008t0001others(2): Show | a0002c0003t0001g0160a0002c0003t0001g0161a0002c0003t0001g0162others(50): Show | 53 | 228 | 0.2325 | -1 | c.510 others(5): Show |
p.Asn others(6): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 27/27 | 5186/5414 | 5105/5169 | 1702/1722 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| LTB4R2_chr14_24305140_24317038 | 24311450 | GGGCGGAG others(7): Show |
G | frameshift_variant | HIGH | HG02738.hp2 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0001 | 1 | 408 | 0.0025 | -14 | c.792 others(21): Show |
p.Gly others(5): Show |
LTB4R2 | ENSG00000213906.10 | transcript | ENST00000533293.2 | protein_coding | 2/2 | 918/1500 | 792/1077 | 264/358 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
| LTBP3_chr11_65533559_65563359 | 65554262 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(20): Show |
a0003a0013 | a0003c0004a0003c0010a0003c0017others(4): Show | a0003c0004t0001a0003c0010t0001a0003c0017t0001others(4): Show | a0003c0004t0001g0070a0003c0004t0001g0076a0003c0004t0001g0077others(20): Show | 23 | 316 | 0.0728 | 1 | c.449 others(4): Show |
p.Thr others(5): Show |
LTBP3 | ENSG00000168056.18 | transcript | ENST00000301873.11 | protein_coding | 2/28 | 849/4833 | 449/3912 | 150/1303 | chr11 | TogoVar | ||
| LTK_chr15_41498637_41518827 | 41511835 | G | GCCCCCGC others(3): Show |
frameshift_variant | HIGH | NA18966.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0076 | 1 | 430 | 0.0023 | 10 | c.629 others(17): Show |
p.Ala others(5): Show |
LTK | ENSG00000062524.16 | transcript | ENST00000263800.11 | protein_coding | 5/20 | 756/3072 | 638/2595 | 213/864 | chr15 | TogoVar | ||
| LTN1_chr21_28923144_28997877 | 28970534 | AAAATTTA others(11): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18997.hp1 | a0016 | a0016c0016 | a0016c0016t0001 | a0016c0016t0001g0107 | 1 | 404 | 0.0025 | -18 | c.117 others(30): Show |
p.Leu others(5): Show |
LTN1 | ENSG00000198862.14 | transcript | ENST00000361371.10 | protein_coding | 8/30 | 1175/5301 | 392/1766 | chr21 | TogoVar | |||
| LUZP4_chrX_115284715_115312563 | 115306534 | A | AT | frameshift_variant | HIGH | NA18974.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0072 | 1 | 280 | 0.0036 | 1 | c.673 others(4): Show |
p.Ser others(5): Show |
LUZP4 | ENSG00000102021.11 | transcript | ENST00000371920.4 | protein_coding | 4/4 | 719/1746 | 674/942 | 225/313 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| LY6G5B_chr6_31664976_31678546 | 31671997 | G | GTTTTTTT others(31): Show |
frameshift_variant | HIGH | NA20805.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0001 | 1 | 415 | 0.0024 | 38 | c.322 others(45): Show |
p.Ser others(5): Show |
LY6G5B | ENSG00000240053.9 | transcript | ENST00000375864.5 | protein_coding | 3/3 | 1298/2845 | 323/606 | 108/201 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| LY6H_chr8_143152916_143165321 | 143158343 | GCACAAAT others(13): Show |
G | frameshift_variant | HIGH | NA19066.hp2 | a0000 | a0000c0006 | a0000c0006t0001 | a0000c0006t0001g0021 | 1 | 443 | 0.0023 | -20 | c.373 others(27): Show |
p.Cys others(5): Show |
LY6H | ENSG00000176956.13 | transcript | ENST00000342752.9 | protein_coding | 4/4 | 514/942 | 373/486 | 125/161 | chr8 | TogoVar | ||
| LYPD8_chr1_248734415_248760759 | 248751042 | C | CAAGCACT others(117): Show |
frameshift_variant others(1): Show |
HIGH | HG02559.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0267 | 1 | 374 | 0.0027 | 124 | c.-49 others(133): Show |
p.Val others(4): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 3/7 | 291/1162 | 39/714 | 13/237 | chr1 | TogoVar | ||
| M1AP_chr2_74552883_74653330 | 74558799 | A | AGGCTCTG others(24): Show |
frameshift_variant | HIGH | NA18979.hp2 | a0000 | a0000c0008 | a0000c0008t0002 | a0000c0008t0002g0077 | 1 | 248 | 0.0040 | 31 | c.147 others(40): Show |
p.Ser others(5): Show |
M1AP | ENSG00000159374.18 | transcript | ENST00000421985.2 | protein_coding | 11/11 | 1627/2544 | 1509/1593 | 503/530 | chr2 | TogoVar | ||
| MAGEA12_chrX_152728757_152742669 | 152736181 | G | GC | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.20_ others(6): Show |
p.Gln others(3): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 305/1792 | 21/945 | 7/314 | chrX | TogoVar | ||
| MAGEA12_chrX_152728757_152742669 | 152736190 | G | GC | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.30d others(3): Show |
p.Lys others(4): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 315/1792 | 31/945 | 11/314 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MAGEA12_chrX_152728757_152742669 | 152736238 | T | TG | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.80d others(3): Show |
p.Ala others(4): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 365/1792 | 81/945 | 27/314 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MAGEA12_chrX_152728757_152742669 | 152736278 | C | CT | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.118 others(4): Show |
p.Ser others(4): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 403/1792 | 119/945 | 40/314 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MAGEA12_chrX_152728757_152742669 | 152736377 | C | CG | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.216 others(8): Show |
p.Thr others(4): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 501/1792 | 217/945 | 73/314 | chrX | TogoVar | ||
| MAGEA12_chrX_152728757_152742669 | 152736454 | T | TG | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.293 others(8): Show |
p.Phe others(4): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 578/1792 | 294/945 | 98/314 | chrX | TogoVar | ||
| MAGEA12_chrX_152728757_152742669 | 152736516 | T | TC | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.355 others(8): Show |
p.Phe others(5): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 640/1792 | 356/945 | 119/314 | chrX | TogoVar | ||
| MAGEA12_chrX_152728757_152742669 | 152736652 | T | TG | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.491 others(8): Show |
p.Ile others(5): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 776/1792 | 492/945 | 164/314 | chrX | TogoVar | ||
| MAGEA12_chrX_152728757_152742669 | 152736677 | C | CG | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.518 others(4): Show |
p.His others(5): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 803/1792 | 519/945 | 173/314 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MAGEA12_chrX_152728757_152742669 | 152736764 | C | CT | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.603 others(8): Show |
p.Leu others(5): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 888/1792 | 604/945 | 202/314 | chrX | TogoVar | ||
| MAGEA12_chrX_152728757_152742669 | 152736875 | CT | C | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | -1 | c.717 others(4): Show |
p.Phe others(5): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 1001/1792 | 717/945 | 239/314 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MAGEA12_chrX_152728757_152742669 | 152737025 | C | CT | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.864 others(8): Show |
p.His others(5): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 1149/1792 | 865/945 | 289/314 | chrX | TogoVar | ||
| MAGEA12_chrX_152728757_152742669 | 152737079 | A | AC | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.918 others(8): Show |
p.Trp others(5): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 1203/1792 | 919/945 | 307/314 | chrX | TogoVar | ||
| MAGEA1_chrX_153174284_153188880 | 153183262 | CT | C | frameshift_variant | HIGH | NA19057.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0015 | 1 | 343 | 0.0029 | -1 | c.878 others(4): Show |
p.Phe others(5): Show |
MAGEA1 | ENSG00000198681.7 | transcript | ENST00000356661.7 | protein_coding | 3/3 | 1098/1711 | 878/930 | 293/309 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MAGEA2_chrX_152744863_152758842 | 152750660 | T | TC | frameshift_variant | HIGH | NA19084.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0035 | 1 | 191 | 0.0052 | 1 | c.703 others(4): Show |
p.Glu others(5): Show |
MAGEA2 | ENSG00000268606.6 | transcript | ENST00000684311.1 | protein_coding | 5/5 | 1088/1886 | 703/945 | 235/314 | chrX | TogoVar | ||
| MAGEA2_chrX_152744863_152758842 | 152751081 | G | GC | frameshift_variant | HIGH | NA19084.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0035 | 1 | 191 | 0.0052 | 1 | c.282 others(4): Show |
p.Pro others(4): Show |
MAGEA2 | ENSG00000268606.6 | transcript | ENST00000684311.1 | protein_coding | 5/5 | 667/1886 | 282/945 | 94/314 | chrX | TogoVar |