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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKRD36_chr2_97108153_97269521 | 97150885 | TCTTTCCC others(8897): Show |
T | exon_loss_variant | HIGH | NA19079.hp2 | a0019 | a0019c0031 | a0019c0031t0007 | a0019c0031t0007g0126 | 1 | 212 | 0.0047 | -8904 | c.110 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 13/76 | chr2 | TogoVar | ||||||
RAP1GAP2_chr17_2791438_3042741 | 2871944 | CCAGGCGT others(8896): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0003 | a0002c0003t0129 | a0002c0003t0129g0054 | 1 | 218 | 0.0046 | -8903 | c.81- others(17): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97150889 | TCCCCCTC others(8893): Show |
T | exon_loss_variant | HIGH | NA19056.hp2 | a0019 | a0019c0032 | a0019c0032t0007 | a0019c0032t0007g0127 | 1 | 212 | 0.0047 | -8900 | c.110 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 13/76 | chr2 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65602353 | ACACACAC others(8863): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0316 | 1 | 374 | 0.0027 | -8870 | c.204 others(18): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
LHX4_chr1_180225264_180283984 | 180255306 | ATGCAGGC others(8823): Show |
A | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 402 | 0.0025 | -8830 | c.248 others(17): Show |
LHX4 | ENSG00000121454.6 | transcript | ENST00000263726.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TBC1D16_chr17_79927343_80040872 | 80018213 | ATTTTTAG others(8822): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp1 HG01261.hp1 others(21): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(17): Show | a0001c0001t0002g0095a0001c0001t0004g0096a0001c0001t0004g0103others(21): Show | 24 | 334 | 0.0719 | -8829 | c.-63 others(17): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 1/11 | chr17 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99400169 | TGCCAGAC others(8816): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01257.hp2 HG02257.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0011 | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(2): Show | a0001c0001t0001g0041a0001c0001t0003g0018a0001c0001t0003g0020others(3): Show | 6 | 48 | 0.1250 | -8823 | c.157 others(18): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 11/26 | chr12 | TogoVar | ||||||
ENTPD5_chr14_73958230_74024288 | 73993735 | CAGCAGCT others(8807): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG03139.hp2 |
a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0013 | 2 | 380 | 0.0053 | -8814 | c.-71 others(17): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94168312 | GGACTTTG others(8786): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02818.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0007a0006c0006t0003 | a0001c0001t0007g0246a0006c0006t0003g0012a0006c0006t0003g0076others(1): Show | 6 | 408 | 0.0147 | -8793 | c.322 others(16): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ZSCAN5C_chr19_56197273_56214461 | 56201994 | TAAAACTT others(8777): Show |
T | transcript_ablation | HIGH | HG02896.hp2 HG02897.hp1 HG03209.hp1 others(1): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 4 | 472 | 0.0085 | -8784 | c.-45 others(10): Show |
p.0? | ZSCAN5C | ENSG00000204532.9 | transcript | ENST00000534327.7 | protein_coding | 1/5 | chr19 | TogoVar | |||||
BRF1_chr14_105204286_105306001 | 105231595 | GCAGCCCT others(8764): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 72 | 0.0139 | -8771 | c.694 others(16): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
CSH2_chr17_63867016_63878677 | 63869910 | CACCCGAG others(8760): Show |
C | transcript_ablation | HIGH | HG00099.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 410 | 0.0024 | -8767 | c.-50 others(11): Show |
p.0? | CSH2 | ENSG00000213218.11 | transcript | ENST00000392886.7 | protein_coding | 5/5 | chr17 | TogoVar | |||||
LARS2_chr3_45383576_45554407 | 45501801 | TGAGGGAT others(8758): Show |
T | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 242 | 0.0041 | -8765 | c.176 others(19): Show |
LARS2 | ENSG00000011376.12 | transcript | ENST00000645846.2 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NRXN3_chr14_78165373_79873291 | 79639945 | GTGGTTTC others(8754): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0023 | 1 | 24 | 0.0417 | -8761 | c.344 others(21): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EFCC1_chr3_128996304_129045742 | 129026309 | CTGTCCCT others(8739): Show |
C | exon_loss_variant | HIGH | HG02717.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0177 | 1 | 354 | 0.0028 | -8746 | c.981 others(17): Show |
EFCC1 | ENSG00000114654.8 | transcript | ENST00000683648.1 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113431936 | TGAACTCC others(8731): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02083.hp2 | a0016 | a0016c0066 | a0016c0066t0001 | a0016c0066t0001g0091 | 1 | 262 | 0.0038 | -8738 | c.379 others(17): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 3/8 | chr13 | TogoVar | ||||||
ZNF701_chr19_52565287_52592174 | 52569518 | TACTCCGT others(8718): Show |
T | exon_loss_variant | HIGH | HG03490.hp1 | a0012 | a0012c0016 | a0012c0016t0196 | a0012c0016t0196g0060 | 1 | 456 | 0.0022 | -8725 | c.-87 others(13): Show |
ZNF701 | ENSG00000167562.14 | transcript | ENST00000391785.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MMP26_chr11_4699784_4997429 | 4946398 | GCTCCTTT others(8606): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00735.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0060a0001c0001t0001g0092others(9): Show | 12 | 206 | 0.0583 | -8613 | c.-14 others(21): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MMP26_chr11_4699784_4997429 | 4946925 | TCATGCAA others(8606): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(53): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0024a0001c0001t0001g0030others(53): Show | 56 | 206 | 0.2718 | -8613 | c.-14 others(21): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20122757 | TATTTTCC others(8578): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03139.hp2 HG03453.hp2 others(3): Show |
a0002a0007a0024others(1): Show | a0002c0002a0007c0010a0024c0029others(1): Show | a0002c0002t0002a0007c0010t0003a0024c0029t0003others(1): Show | a0002c0002t0002g0134a0007c0010t0003g0130a0007c0010t0003g0131others(3): Show | 6 | 236 | 0.0254 | -8585 | c.860 others(19): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 8/26 | chr20 | TogoVar | ||||||
FAR1_chr11_13663668_13737346 | 13682644 | TGTCACCC others(8540): Show |
T | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0300 | 1 | 352 | 0.0028 | -8547 | c.-7- others(16): Show |
FAR1 | ENSG00000197601.14 | transcript | ENST00000354817.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TRIM37_chr17_58993202_59111880 | 59032322 | GAGACCAT others(8514): Show |
G | intron_variant | MODIFIER | NA18943.hp2 NA18955.hp1 NA18994.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0277a0001c0001t0001g0317a0001c0001t0001g0318others(2): Show | 5 | 342 | 0.0146 | -8521 | c.175 others(17): Show |
TRIM37 | ENSG00000108395.14 | transcript | ENST00000262294.12 | protein_coding | 17/23 | chr17 | TogoVar | ||||||
TTN_chr2_178520989_178812423 | 178654790 | CCTTCTTT others(8514): Show |
C | exon_loss_variant | HIGH | HG02280.hp1 | a0082 | a0082c0052 | a0082c0052t0002 | a0082c0052t0002g0113 | 1 | 242 | 0.0041 | -8521 | c.366 others(11): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 190/363 | 38385/109224 | chr2 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138875859 | GCCTGTAA others(8510): Show |
G | exon_loss_variant | HIGH | HG03471.hp1 | a0022 | a0022c0026 | a0022c0026t0012 | a0022c0026t0012g0218 | 1 | 326 | 0.0031 | -8517 | c.157 others(18): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ZPBP_chr7_49932441_50098246 | 50034480 | AACTGAAA others(8507): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0239 | 1 | 278 | 0.0036 | -8514 | c.488 others(18): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CTDSPL_chr3_37856880_37989469 | 37936924 | TGCTCTTG others(8498): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01099.hp2 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0033a0001c0001t0001g0042others(13): Show | 16 | 166 | 0.0964 | -8505 | c.80- others(16): Show |
CTDSPL | ENSG00000144677.15 | transcript | ENST00000273179.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GADL1_chr3_30721197_30899661 | 30828024 | CCTGGCAG others(8480): Show |
C | exon_loss_variant | HIGH | HG00544.hp1 | a0010 | a0010c0006 | a0010c0006t0040 | a0010c0006t0040g0282 | 1 | 282 | 0.0036 | -8487 | c.904 others(18): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/15 | chr3 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172503881 | ACAGATCA others(8480): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02015.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0011a0001c0001t0001g0023a0001c0001t0001g0028others(24): Show | 27 | 40 | 0.6750 | -8487 | c.553 others(21): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
CYP3A5_chr7_99643194_99684996 | 99648651 | CTTGTGGA others(8479): Show |
C | exon_loss_variant | HIGH | HG02886.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0180 | 1 | 292 | 0.0034 | -8486 | c.102 others(18): Show |
CYP3A5 | ENSG00000106258.16 | transcript | ENST00000222982.8 | protein_coding | 12/13 | chr7 | TogoVar | ||||||
DNER_chr2_229352629_229719555 | 229454878 | AAAAGAAA others(8459): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03579.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0150a0003c0004t0001g0060 | 2 | 176 | 0.0114 | -8466 | c.126 others(20): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 7/12 | chr2 | TogoVar | ||||||
PLA2G10_chr16_14667548_14699308 | 14690147 | CAGATGGG others(8458): Show |
C | exon_loss_variant | HIGH | HG03942.hp2 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0028 | 1 | 407 | 0.0025 | -8465 | c.-43 others(13): Show |
PLA2G10 | ENSG00000069764.10 | transcript | ENST00000438167.8 | protein_coding | 2/4 | chr16 | TogoVar | ||||||
MEI4_chr6_77648039_77932045 | 77717202 | CGTGAACA others(8455): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(27): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(27): Show | 30 | 360 | 0.0833 | -8462 | c.232 others(19): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEI4_chr6_77648039_77932045 | 77717373 | AGGTTTTA others(8455): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0004 | 1 | 360 | 0.0028 | -8462 | c.232 others(19): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MEI4_chr6_77648039_77932045 | 77717503 | GGGCTGGG others(8455): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp2 HG01891.hp1 others(18): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0238a0001c0001t0003g0152a0001c0001t0003g0166others(18): Show | 21 | 360 | 0.0583 | -8462 | c.232 others(19): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FGD4_chr12_32394558_32651050 | 32465465 | GGAGACCA others(8411): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0005 | a0002c0005t0008 | a0002c0005t0008g0193 | 1 | 232 | 0.0043 | -8418 | c.166 others(19): Show |
FGD4 | ENSG00000139132.16 | transcript | ENST00000534526.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UBE2K_chr4_39693136_39787792 | 39702769 | CTGTAGAC others(8389): Show |
C | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0007 | 1 | 336 | 0.0030 | -8396 | c.63+ others(16): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CREB3L3_chr19_4148631_4178054 | 4155866 | ACTTCCCG others(8353): Show |
A | exon_loss_variant | HIGH | NA18998.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0277 | 1 | 404 | 0.0025 | -8360 | c.156 others(15): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RABEP1_chr17_5277284_5391340 | 5310909 | AAGCGACT others(8346): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0163 | 1 | 352 | 0.0028 | -8353 | c.163 others(18): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
C14orf132_chr14_96034362_96098971 | 96061027 | AATGCCAC others(8327): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0093 | 1 | 372 | 0.0027 | -8334 | c.27+ others(17): Show |
C14orf132 | ENSG00000227051.7 | transcript | ENST00000555004.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1394393 | ACCTCCTC others(8315): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 40 | 0.0250 | -8322 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42635875 | GTGGGCAT others(8282): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0201 | 1 | 210 | 0.0048 | -8289 | c.136 others(18): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARHGEF4_chr2_130831914_131052253 | 130881495 | AAGAGCGG others(8237): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0120 | 1 | 144 | 0.0069 | -8244 | c.40- others(17): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107692856 | CCTGTTGT others(8236): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG02896.hp2 HG02965.hp1 others(3): Show |
a0003a0008 | a0003c0003a0003c0011a0008c0012 | a0003c0003t0008a0003c0003t0057a0003c0011t0009others(1): Show | a0003c0003t0008g0044a0003c0003t0008g0045a0003c0003t0008g0118others(3): Show | 6 | 222 | 0.0270 | -8243 | c.-9- others(16): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SGCD_chr5_156322164_156772788 | 156657939 | GGGGAGAG others(8205): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02717.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0001g0023a0001c0001t0001g0117a0001c0001t0006g0038others(6): Show | 9 | 150 | 0.0600 | -8212 | c.575 others(19): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RALYL_chr8_84178274_84926844 | 84348731 | CCAACTTT others(8196): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG03098.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0002g0032a0001c0001t0004g0016a0001c0001t0004g0026others(3): Show | 6 | 82 | 0.0732 | -8203 | c.-24 others(21): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MAP3K13_chr3_185358136_185494094 | 185383280 | GGTTCCAA others(8195): Show |
G | intron_variant | MODIFIER | NA18982.hp2 NA19077.hp1 |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0002a0009c0017t0002 | a0001c0001t0002g0029a0009c0017t0002g0011 | 2 | 278 | 0.0072 | -8202 | c.-86 others(19): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 1/13 | chr3 | TogoVar | ||||||
SPANXA2_chrX_141584708_141595762 | 141585342 | TGGACACT others(8179): Show |
T | transcript_ablation | HIGH | NA18968.hp1 NA18998.hp2 |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 2 | 185 | 0.0108 | -8186 | c.-44 others(11): Show |
p.0? | SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | chrX | TogoVar | |||||
MUC20_chr3_195715978_195738551 | 195730377 | GCTCTGTC others(8167): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00544.hp1 HG00609.hp1 HG00673.hp2 others(28): Show |
a0000 | a0000c0002a0000c0008a0000c0013others(7): Show | a0000c0002t0003a0000c0008t0003a0000c0013t0003others(7): Show | a0000c0002t0003g0001a0000c0002t0003g0025a0000c0002t0003g0028others(15): Show | 31 | 185 | 0.1676 | -8174 | c.206 others(14): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 4/4 | chr3 | TogoVar | ||||||
TXLNG_chrX_16781466_16849519 | 16801347 | GGCTAATT others(8151): Show |
G | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 264 | 0.0038 | -8158 | c.102 others(18): Show |
TXLNG | ENSG00000086712.13 | transcript | ENST00000380122.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSNKA2IP_chr3_88333456_88472594 | 88408208 | AGGCAGTT others(8141): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02976.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0152a0002c0002t0001g0153 | 2 | 386 | 0.0052 | -8148 | c.-27 others(21): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |