| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| APOBEC3A_chr22_38952609_38968184 | 38960470 | GTCCCTCC others(7707): Show |
G | exon_loss_variant | HIGH | HG01891.hp2 | a0000 | a0000c0007 | a0000c0007t0017 | a0000c0007t0017g0043 | 1 | 360 | 0.0028 | -7714 | c.174 others(13): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 3/5 | chr22 | TogoVar | |||||||
| PDE11A_chr2_177618244_178077777 | 177851375 | AGGCCTGT others(7704): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0091 | 1 | 170 | 0.0059 | -7711 | c.136 others(21): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 5/19 | chr2 | TogoVar | |||||||
| SLC10A7_chr4_146248981_146526940 | 146402178 | CATATGTG others(7699): Show |
C | intron_variant | MODIFIER | NA18947.hp1 NA18957.hp1 NA19010.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084 a0001c0001t0005g0115 a0001c0001t0005g0116 others(1): Show |
4 | 244 | 0.0164 | -7706 | c.435 others(19): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
| QRFPR_chr4_121323642_121386018 | 121361094 | TAACTCTG others(7695): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG02015.hp2 others(24): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0008 | a0001c0001t0003a0003c0004t0006a0003c0004t0009others(2): Show | a0001c0001t0003g0294 a0003c0004t0006g0337 a0003c0004t0006g0338 others(23): Show |
27 | 384 | 0.0703 | -7702 | c.340 others(19): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
| IL3RA_chrX_1331785_1387689 | 1368745 | GGGCCTCA others(7686): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 115 | 0.0087 | -7693 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| OR7C1_chr19_14793515_14840185 | 14804473 | TAATATTC others(7661): Show |
T | splice_acceptor_variant others(5): Show |
HIGH | HG02622.hp1 HG02818.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0096 a0001c0001t0010g0099 a0001c0001t0010g0234 others(1): Show |
4 | 408 | 0.0098 | -7668 | c.-62 others(19): Show |
OR7C1 | ENSG00000127530.4 | transcript | ENST00000641666.2 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
| TMEM184B_chr22_38214291_38278010 | 38259901 | GAGTAGCT others(7650): Show |
G | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 354 | 0.0028 | -7657 | c.-59 others(18): Show |
TMEM184B | ENSG00000198792.13 | transcript | ENST00000361906.8 | protein_coding | 1/8 | chr22 | TogoVar | |||||||
| SCGB2B2_chr19_34585644_34682159 | 34649747 | GGGAGGCT others(7643): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0095a0001c0001t0096others(2): Show | a0001c0001t0017g0204 a0001c0001t0017g0206 a0001c0001t0095g0207 others(3): Show |
6 | 370 | 0.0162 | -7650 | c.-20 others(23): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
| RNF139_chr8_124469880_124493618 | 124480507 | ATGAATTA others(7632): Show |
A | stop_lost others(2): Show |
HIGH | HG02622.hp1 | a0000 | a0000c0004 | a0000c0004t0010 | a0000c0004t0010g0130 | 1 | 408 | 0.0025 | -7639 | c.181 others(13): Show |
p.Gly others(18): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 2/2 | 182/1995 | 61/664 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||
| ZER1_chr9_128724786_128776927 | 128759416 | ATCCGCCC others(7614): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0271 | 1 | 330 | 0.0030 | -7621 | c.-95 others(17): Show |
ZER1 | ENSG00000160445.11 | transcript | ENST00000291900.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
| CADM2_chr3_84953989_86079429 | 85589912 | GGGAAAAT others(7610): Show |
G | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 146 | 0.0069 | -7617 | c.62- others(19): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| DET1_chr15_88507480_88551681 | 88538146 | ACTGGTTT others(7581): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 402 | 0.0025 | -7588 | c.-11 others(16): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
| RNASE3_chr14_20886385_20897348 | 20889770 | TACTATAG others(7571): Show |
T | transcript_ablation | HIGH | HG02622.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 422 | 0.0024 | -7578 | c.-16 others(11): Show |
p.0? | RNASE3 | ENSG00000169397.4 | transcript | ENST00000304639.4 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
| LMNTD1_chr12_25471082_25558283 | 25494301 | GAAACTTT others(7570): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 a0001c0001t0001g0301 |
2 | 388 | 0.0052 | -7577 | c.*22 others(17): Show |
LMNTD1 | ENSG00000152936.11 | transcript | ENST00000458174.7 | protein_coding | 9/9 | chr12 | TogoVar | |||||||
| CSMD1_chr8_2930361_4999914 | 4139415 | ACTGGAGG others(7542): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02615.hp2 others(2): Show |
a0001a0002a0003 | a0001c0004a0001c0025a0001c0043others(2): Show | a0001c0004t0063a0001c0025t0003a0001c0043t0031others(2): Show | a0001c0004t0063g0095 a0001c0025t0003g0077 a0001c0043t0031g0044 others(2): Show |
5 | 126 | 0.0397 | -7549 | c.416 others(21): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
| KCTD8_chr4_44168903_44453809 | 44321834 | ATGAGTGA others(7541): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0269 a0001c0001t0004g0231 a0001c0001t0004g0270 others(1): Show |
4 | 294 | 0.0136 | -7548 | c.961 others(21): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
| STPG4_chr2_47081991_47160308 | 47099823 | AGAGCAGC others(7541): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0003c0011t0001 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(1): Show |
4 | 352 | 0.0114 | -7548 | c.520 others(18): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 5/6 | chr2 | TogoVar | |||||||
| STPG4_chr2_47081991_47160308 | 47100164 | TGGGATCC others(7540): Show |
T | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 352 | 0.0028 | -7547 | c.520 others(18): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 5/6 | chr2 | TogoVar | |||||||
| STPG4_chr2_47081991_47160308 | 47100298 | CAGCACCC others(7538): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0346 | 1 | 352 | 0.0028 | -7545 | c.520 others(18): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 5/6 | chr2 | TogoVar | |||||||
| MAD1L1_chr7_1810795_2237945 | 1816407 | AATTAACC others(7526): Show |
A | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0092 | 1 | 264 | 0.0038 | -7533 | c.199 others(18): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | |||||||
| LILRB3_chr19_54211278_54228007 | 54220482 | GGAGCTGA others(7518): Show |
G | exon_loss_variant | HIGH | HG01243.hp1 HG02004.hp1 HG02109.hp1 others(2): Show |
a0007 | a0007c0016 | a0007c0016t0008 | a0007c0016t0008g0030 a0007c0016t0008g0149 a0007c0016t0008g0150 |
5 | 455 | 0.0110 | -7525 | c.-50 others(13): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | chr19 | TogoVar | |||||||
| OR13C2_chr9_104599671_104610627 | 104600554 | GATTGGTC others(7497): Show |
G | transcript_ablation | HIGH | NA19043.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 412 | 0.0024 | -7504 | c.-24 others(11): Show |
p.0? | OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
| TP63_chr3_189626389_189902276 | 189645631 | TATCTCCT others(7472): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01099.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(59): Show |
62 | 312 | 0.1987 | -7479 | c.62+ others(17): Show |
TP63 | ENSG00000073282.14 | transcript | ENST00000264731.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| ATP13A4_chr3_193393967_193559895 | 193417674 | TACCCAGA others(7465): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(42): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0216 a0001c0001t0002g0181 a0001c0001t0002g0182 others(42): Show |
45 | 302 | 0.1490 | -7472 | c.284 others(19): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 25/29 | chr3 | TogoVar | |||||||
| TNRC6B_chr22_40172925_40340808 | 40196244 | GGCTCAAG others(7460): Show |
G | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 308 | 0.0033 | -7467 | c.5+1 others(15): Show |
TNRC6B | ENSG00000100354.21 | transcript | ENST00000454349.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1369407 | AGGGCACA others(7451): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02622.hp2 HG02886.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0020a0004c0018 | a0001c0001t0003a0001c0020t0009a0004c0018t0003 | a0001c0001t0003g0036 a0001c0001t0003g0106 a0001c0001t0003g0107 others(3): Show |
6 | 115 | 0.0522 | -7458 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67634003 | TGAAGTCC others(7438): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG02896.hp2 HG03225.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 a0002c0002t0001g0109 a0002c0002t0001g0134 others(2): Show |
5 | 144 | 0.0347 | -7445 | c.117 others(18): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
| PEX14_chr1_10469950_10635758 | 10576551 | GAAATGGT others(7432): Show |
G | intron_variant | MODIFIER | HG02040.hp2 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0154 |
2 | 258 | 0.0078 | -7439 | c.170 others(19): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRKG1_chr10_51069487_52303350 | 51939738 | ACCAGTGG others(7426): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02886.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0022 a0001c0001t0005g0064 a0001c0001t0007g0007 |
3 | 64 | 0.0469 | -7433 | c.762 others(19): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| STEAP1_chr7_90149469_90169827 | 90162409 | ACCTGCGC others(7411): Show |
A | exon_loss_variant others(5): Show |
HIGH | HG02647.hp2 | a0000 | a0000c0004 | a0000c0004t0002 | a0000c0004t0002g0042 | 1 | 422 | 0.0024 | -7418 | c.762 others(13): Show |
STEAP1 | ENSG00000164647.9 | transcript | ENST00000297205.7 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
| ZNF264_chr19_57186500_57227846 | 57195540 | AAGGGTCT others(7408): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0053a0001c0001t0054others(1): Show | a0001c0001t0010g0009 a0001c0001t0010g0028 a0001c0001t0053g0009 others(2): Show |
8 | 356 | 0.0225 | -7415 | c.160 others(17): Show |
ZNF264 | ENSG00000083844.11 | transcript | ENST00000263095.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| PIN4_chrX_72176757_72203340 | 72189046 | TCCCAGCT others(7362): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 a0001c0001t0002g0138 |
2 | 307 | 0.0065 | -7369 | c.117 others(16): Show |
PIN4 | ENSG00000102309.15 | transcript | ENST00000373669.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| DNAH14_chr1_224924675_225404286 | 225392969 | GCCCTGCC others(7352): Show |
G | exon_loss_variant | HIGH | HG02683.hp1 | a0000 | a0000c0102 | a0000c0102t0003 | a0000c0102t0003g0177 | 1 | 240 | 0.0042 | -7359 | c.134 others(15): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 85/86 | chr1 | TogoVar | |||||||
| IFTAP_chr11_36589502_36664272 | 36625907 | AGTGCAAA others(7347): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0203 others(3): Show |
10 | 358 | 0.0279 | -7354 | c.137 others(15): Show |
IFTAP | ENSG00000166352.18 | transcript | ENST00000334307.10 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
| SORL1_chr11_121447314_121638763 | 121502239 | CATTCTCC others(7334): Show |
C | intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 272 | 0.0037 | -7341 | c.939 others(17): Show |
SORL1 | ENSG00000137642.13 | transcript | ENST00000260197.12 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| TMLHE_chrX_155484011_155617952 | 155548930 | CAAAAATT others(7329): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 216 | 0.0046 | -7336 | c.-1- others(16): Show |
TMLHE | ENSG00000185973.12 | transcript | ENST00000334398.8 | protein_coding | 1/7 | chrX | TogoVar | |||||||
| APOBEC3A_chr22_38952609_38968184 | 38960851 | CCATCAGG others(7326): Show |
C | exon_loss_variant | HIGH | HG02572.hp1 NA19085.hp2 |
a0000 | a0000c0007 | a0000c0007t0003 | a0000c0007t0003g0027 | 2 | 360 | 0.0056 | -7333 | c.175 others(13): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 3/5 | chr22 | TogoVar | |||||||
| KALRN_chr3_124028369_124731325 | 124202831 | AATCTTCT others(7299): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0023 | a0001c0023t0018 | a0001c0023t0018g0038 | 1 | 116 | 0.0086 | -7306 | c.74- others(17): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | chr3 | TogoVar | |||||||
| SSU72L4_chr11_4282084_4293185 | 4285884 | CGACTCCC others(7294): Show |
C | transcript_ablation | HIGH | HG01261.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 318 | 0.0031 | -7301 | c.-51 others(11): Show |
p.0? | SSU72L4 | ENSG00000283873.2 | transcript | ENST00000638166.2 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
| CCSER1_chr4_90122394_91610295 | 91418390 | AAGAAGAG others(7292): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0008 | a0001c0008t0019 | a0001c0008t0019g0029 | 1 | 38 | 0.0263 | -7299 | c.221 others(23): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| TECR_chr19_14524594_14570980 | 14548088 | AAGTAGCT others(7279): Show |
A | intron_variant | MODIFIER | HG03490.hp1 HG03654.hp1 HG03710.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0098 a0001c0001t0001g0122 a0001c0001t0002g0003 others(3): Show |
6 | 332 | 0.0181 | -7286 | c.16- others(16): Show |
TECR | ENSG00000099797.15 | transcript | ENST00000215567.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| CACNA2D1_chr7_81941444_82448777 | 82290845 | CTCGGCCT others(7269): Show |
C | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0042 | 1 | 144 | 0.0069 | -7276 | c.294 others(19): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144655428 | GCCCAATC others(7252): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0239 | 1 | 246 | 0.0041 | -7259 | c.-82 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
| MBTPS1_chr16_84048763_84121942 | 84091220 | TCACGCCT others(7252): Show |
T | exon_loss_variant | HIGH | NA18995.hp2 | a0004 | a0004c0020 | a0004c0020t0002 | a0004c0020t0002g0132 | 1 | 424 | 0.0024 | -7259 | c.421 others(15): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 7/23 | chr16 | TogoVar | |||||||
| RALYL_chr8_84178274_84926844 | 84612550 | CTCCAGAA others(7248): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0033 | 1 | 82 | 0.0122 | -7255 | c.256 others(19): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
| CNTNAP5_chr2_124020287_124926219 | 124894214 | TATTAAGT others(7231): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG03471.hp2 NA19043.hp2 |
a0001a0002 | a0001c0002a0002c0004a0002c0008 | a0001c0002t0012a0002c0004t0001a0002c0008t0001 | a0001c0002t0012g0018 a0002c0004t0001g0001 a0002c0008t0001g0038 |
3 | 64 | 0.0469 | -7238 | c.343 others(19): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| GLT1D1_chr12_128848478_128989968 | 128890506 | GGGCACGG others(7213): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 320 | 0.0031 | -7220 | c.323 others(17): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| SNTG1_chr8_49906407_50801692 | 50118531 | GTTAGTTA others(7191): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00741.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 others(21): Show |
24 | 106 | 0.2264 | -7198 | c.-10 others(21): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| EPS8_chr12_15615134_15794388 | 15746373 | GCTTACTC others(7188): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 102 | 0.0098 | -7195 | c.-22 others(19): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
| HSPA1A_chr6_31810543_31822942 | 31815750 | AACCGGCA others(7185): Show |
A | frameshift_variant others(2): Show |
HIGH | NA18943.hp2 | a0000 | a0000c0000 | a0000c0000t0009 | a0000c0000t0009g0000 | 1 | 419 | 0.0024 | -7192 | c.-6_ others(8): Show |
p.Met others(3): Show |
HSPA1A | ENSG00000204389.10 | transcript | ENST00000375651.7 | protein_coding | 1/1 | 209/2400 | 1/1926 | 1/641 | chr6 | TogoVar |