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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TUBA3C_chr13_19168772_19186824 | 19177560 | AAAACTGT others(9257): Show |
A | exon_loss_variant | HIGH | HG03942.hp2 | a0005 | a0005c0017 | a0005c0017t0005 | a0005c0017t0005g0232 | 1 | 448 | 0.0022 | -9264 | c.-50 others(9): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 3/5 | 499/1521 | chr13 | TogoVar | ||||||
TEX9_chr15_56360426_56435154 | 56413410 | AACACATA others(9249): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0035 a0001c0001t0007g0322 a0001c0001t0007g0323 others(1): Show |
5 | 380 | 0.0132 | -9256 | c.963 others(17): Show |
TEX9 | ENSG00000151575.15 | transcript | ENST00000696102.1 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PRR20D_chr13_57155632_57168653 | 57159446 | CCCCCCCC others(9200): Show |
C | transcript_ablation | HIGH | NA19010.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 146 | 0.0069 | -9207 | c.-14 others(11): Show |
p.0? | PRR20D | ENSG00000227151.4 | transcript | ENST00000452123.3 | protein_coding | 2/3 | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92810152 | CCCTATAC others(9194): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 HG03453.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0012 a0001c0004t0001g0024 a0002c0002t0001g0008 others(1): Show |
4 | 42 | 0.0952 | -9201 | c.156 others(21): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149661981 | TTTTAGGT others(9179): Show |
T | intron_variant | MODIFIER | NA19084.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0113 | 1 | 252 | 0.0040 | -9186 | c.565 others(19): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 7/13 | chr4 | TogoVar | |||||||
KIF1B_chr1_10205570_10386603 | 10309423 | TGGCCACA others(9178): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0017a0001c0001t0052 | a0001c0001t0016g0130 a0001c0001t0016g0133 a0001c0001t0016g0134 others(4): Show |
7 | 300 | 0.0233 | -9185 | c.211 others(20): Show |
KIF1B | ENSG00000054523.20 | transcript | ENST00000676179.1 | protein_coding | 22/48 | chr1 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156657700 | TGCAGTTG others(9178): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0011 | 1 | 150 | 0.0067 | -9185 | c.575 others(19): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10252355 | AGATGTGA others(9165): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0074 | 1 | 286 | 0.0035 | -9172 | c.331 others(18): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
DOK6_chr18_69395888_69854087 | 69541120 | CCAAACTG others(9093): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp1 HG01884.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0078others(1): Show | a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0005g0133 others(2): Show |
5 | 170 | 0.0294 | -9100 | c.67- others(17): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 1/7 | chr18 | TogoVar | |||||||
USP14_chr18_153557_219629 | 168526 | CTGGGTTC others(9055): Show |
C | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 380 | 0.0026 | -9062 | c.195 others(17): Show |
USP14 | ENSG00000101557.15 | transcript | ENST00000261601.8 | protein_coding | 3/15 | chr18 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78862424 | CCAATGGA others(9044): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0317 | 1 | 360 | 0.0028 | -9051 | c.114 others(21): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 681605 | GTTTAAAT others(9044): Show |
G | exon_loss_variant | HIGH | NA18967.hp2 NA19083.hp2 |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0190 a0005c0009t0001g0286 |
2 | 418 | 0.0048 | -9051 | c.536 others(15): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 11/16 | chr18 | TogoVar | |||||||
ANO5_chr11_22188085_22288357 | 22272095 | GTTAATAG others(9025): Show |
G | exon_loss_variant | HIGH | NA18939.hp2 | a0000 | a0000c0018 | a0000c0018t0053 | a0000c0018t0053g0097 | 1 | 364 | 0.0028 | -9032 | c.203 others(14): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RFPL4A_chr19_55754097_55768421 | 55759400 | GAGAATTT others(9014): Show |
G | exon_loss_variant | HIGH | NA18747.hp2 NA18983.hp1 |
a0000 | a0000c0000 | a0000c0000t0009 | a0000c0000t0009g0027 | 2 | 462 | 0.0043 | -9021 | c.-10 others(13): Show |
RFPL4A | ENSG00000223638.4 | transcript | ENST00000434937.3 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
TIAM2_chr6_154990315_155262723 | 155047275 | CTCAAGCG others(8986): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0010 | a0010c0054 | a0010c0054t0005 | a0010c0054t0005g0202 | 1 | 230 | 0.0044 | -8993 | c.-20 others(21): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NLGN1_chr3_173392744_174299372 | 173491002 | GATGGGGT others(8950): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0027 | a0001c0001t0003g0026 a0001c0007t0027g0020 |
2 | 44 | 0.0455 | -8957 | c.-32 others(22): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55491783 | TAAAGGTG others(8942): Show |
T | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 340 | 0.0029 | -8949 | c.*17 others(21): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
IL1RAPL1_chrX_28582446_29961718 | 29581978 | GTAGTTAG others(8938): Show |
G | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 135 | 0.0074 | -8945 | c.704 others(19): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ACSL1_chr4_184750595_184830968 | 184811363 | TGGCCTCC others(8898): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0201 | 1 | 392 | 0.0026 | -8905 | c.-33 others(17): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
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 | a0001c0001t0002g0095 a0001c0001t0004g0096 a0001c0001t0004g0103 others(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 | a0001c0001t0001g0041 a0001c0001t0003g0018 a0001c0001t0003g0020 others(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 | a0001c0001t0007g0246 a0006c0006t0003g0012 a0006c0006t0003g0076 others(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 | a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0092 others(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 | a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0030 others(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 | a0002c0002t0002g0134 a0007c0010t0003g0130 a0007c0010t0003g0131 others(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 | a0001c0001t0001g0277 a0001c0001t0001g0317 a0001c0001t0001g0318 others(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 | a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0042 others(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 | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0028 others(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 | a0001c0001t0001g0150 a0003c0004t0001g0060 |
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 |