| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | a0001c0001t0007g0035a0001c0001t0007g0322a0001c0001t0007g0323others(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 | a0001c0001t0001g0012a0001c0004t0001g0024a0002c0002t0001g0008others(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 | a0001c0001t0016g0130a0001c0001t0016g0133a0001c0001t0016g0134others(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 | a0001c0001t0001g0060a0001c0001t0001g0067a0001c0001t0005g0133others(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 | a0005c0009t0001g0190a0005c0009t0001g0286 | 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 | a0001c0001t0003g0026a0001c0007t0027g0020 | 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 |