| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P3H2_chr3_189951728_190125897 | 190121973 | ACCCAGCT others(1390): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0097a0001c0001t0003g0099a0001c0001t0007g0098others(3): Show | 6 | 304 | 0.0197 | -1397 | c.-26 others(11): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1077 | chr3 | TogoVar | ||||||
| PATJ_chr1_61737480_62168915 | 62157260 | GTTGCAGT others(1390): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01074.hp1 others(10): Show |
a0002a0003a0004others(6): Show | a0002c0049a0002c0106a0003c0003others(8): Show | a0002c0049t0004a0002c0106t0012a0003c0003t0004others(9): Show | a0002c0049t0004g0029a0002c0106t0012g0104a0003c0003t0004g0093others(10): Show | 13 | 158 | 0.0823 | -1397 | c.550 others(19): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 43/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TACC2_chr10_121984163_122259542 | 122121073 | TAATCCAC others(1390): Show |
T | intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0082 | 1 | 306 | 0.0033 | -1397 | c.557 others(21): Show |
TACC2 | ENSG00000138162.19 | transcript | ENST00000369005.6 | protein_coding | 5/22 | chr10 | TogoVar | ||||||
| TOR1AIP2_chr1_179834976_179882803 | 179837278 | GTCGCGCA others(1390): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0050 | 1 | 280 | 0.0036 | -1397 | c.*73 others(11): Show |
TOR1AIP2 | ENSG00000169905.13 | transcript | ENST00000609928.6 | protein_coding | 2697 | chr1 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 991175 | ACCCCCTG others(1389): Show |
A | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0039 | 1 | 40 | 0.0250 | -1396 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1372307 | GGGAGAAT others(1389): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 115 | 0.0087 | -1396 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| THSD4_chr15_71110471_71788383 | 71589230 | TAAAGGAC others(1389): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01081.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0041a0001c0001t0001g0042others(13): Show | 16 | 116 | 0.1379 | -1396 | c.115 others(21): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 7/17 | chr15 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240977411 | TCTCTGGG others(1388): Show |
T | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 HG03704.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0057a0002c0002t0002g0301a0002c0002t0002g0302 | 3 | 350 | 0.0086 | -1395 | c.440 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NRK_chrX_105817539_105963610 | 105887094 | ATTAAAAT others(1388): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG01981.hp1 | a0011 | a0011c0006 | a0011c0006t0001 | a0011c0006t0001g0117 | 1 | 219 | 0.0046 | -1395 | c.253 others(15): Show |
NRK | ENSG00000123572.17 | transcript | ENST00000243300.14 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GPC5_chr13_91393621_92872237 | 92592217 | GAGAATGG others(1387): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0035 | 1 | 42 | 0.0238 | -1394 | c.156 others(23): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PPP1R9A_chr7_94902594_95301400 | 95071032 | ATCAAACT others(1386): Show |
A | intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0140 | 1 | 290 | 0.0035 | -1393 | c.139 others(21): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SPDYE3_chr7_100302702_100327196 | 100312496 | CAAAAAAA others(1386): Show |
C | exon_loss_variant others(4): Show |
HIGH | NA18953.hp2 | a0006 | a0006c0022 | a0006c0022t0005 | a0006c0022t0005g0043 | 1 | 344 | 0.0029 | -1393 | c.763 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SPDYE3_chr7_100302702_100327196 | 100312524 | GAAAAAAG others(1386): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02723.hp1 NA19240.hp1 |
a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0045 | 2 | 344 | 0.0058 | -1393 | c.764 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DOC2B_chr17_137789_186650 | 166829 | CATGGTCT others(1385): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(43): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(8): Show | a0001c0001t0001g0167a0001c0001t0001g0254a0001c0001t0002g0005others(39): Show | 46 | 339 | 0.1357 | -1392 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| SPDYE3_chr7_100302702_100327196 | 100313165 | ACGTAGGT others(1385): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG01891.hp1 HG03453.hp2 |
a0002 | a0002c0006 | a0002c0006t0010 | a0002c0006t0010g0041 | 2 | 344 | 0.0058 | -1392 | c.982 others(14): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SPDYE3_chr7_100302702_100327196 | 100313637 | GATTGCTT others(1385): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(18): Show |
a0002a0003 | a0002c0004a0002c0006a0003c0012 | a0002c0004t0002a0002c0004t0005a0002c0004t0014others(2): Show | a0002c0004t0002g0008a0002c0004t0002g0044a0002c0004t0002g0185others(13): Show | 21 | 344 | 0.0611 | -1392 | c.982 others(16): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| C3orf20_chr3_14670141_14778036 | 14768046 | CCTGTAAC others(1383): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0121 | 1 | 380 | 0.0026 | -1390 | c.249 others(19): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SPDYE3_chr7_100302702_100327196 | 100310737 | ACAACAGA others(1383): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(13): Show |
a0002a0003a0009 | a0002c0005a0002c0006a0003c0012others(1): Show | a0002c0005t0001a0002c0006t0001a0003c0012t0001others(1): Show | a0002c0005t0001g0005a0002c0005t0001g0007a0002c0005t0001g0141others(3): Show | 16 | 344 | 0.0465 | -1390 | c.544 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SPDYE3_chr7_100302702_100327196 | 100311134 | AAAAAAAG others(1383): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02896.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0168 | 1 | 344 | 0.0029 | -1390 | c.545 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SPDYE3_chr7_100302702_100327196 | 100311877 | AGAGACGC others(1383): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02735.hp1 | a0002 | a0002c0019 | a0002c0019t0001 | a0002c0019t0001g0134 | 1 | 344 | 0.0029 | -1390 | c.763 others(13): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ACAP3_chr1_1287391_1312930 | 1288757 | CCGTGTCC others(1382): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0053 | 1 | 295 | 0.0034 | -1389 | c.*34 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3633 | chr1 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288757 | CCGTGTCC others(1382): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0034 | a0003c0034t0009 | a0003c0034t0009g0279 | 1 | 290 | 0.0035 | -1389 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DACT2_chr6_168301904_168324777 | 168316238 | CCAGCATC others(1381): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01074.hp2 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0011t0001others(7): Show | a0001c0001t0001g0033a0001c0001t0001g0047a0001c0001t0001g0048others(19): Show | 27 | 476 | 0.0567 | -1388 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| PARD3B_chr2_204540475_205625162 | 205263745 | TTCAAAAG others(1381): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0005 | 1 | 54 | 0.0185 | -1388 | c.218 others(21): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 16/22 | chr2 | TogoVar | ||||||
| SSC5D_chr19_55483436_55524099 | 55504989 | GTTTTAAG others(1381): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02723.hp2 HG03225.hp1 |
a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0171a0008c0012t0001g0173a0008c0012t0001g0177 | 3 | 412 | 0.0073 | -1388 | c.278 others(19): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TENM1_chrX_124370903_125209312 | 125101049 | AATCCAGG others(1381): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0055 | 1 | 140 | 0.0071 | -1388 | c.-65 others(19): Show |
TENM1 | ENSG00000009694.14 | transcript | ENST00000422452.4 | protein_coding | 3/34 | chrX | TogoVar | ||||||
| PIK3CB_chr3_138647698_138839928 | 138789397 | TGCAGTGA others(1380): Show |
T | intron_variant | MODIFIER | NA18994.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0172 | 2 | 206 | 0.0097 | -1387 | c.-17 others(17): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 2/23 | chr3 | TogoVar | ||||||
| SSC5D_chr19_55483436_55524099 | 55504989 | GTTTTAAG others(1380): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0176 | 1 | 412 | 0.0024 | -1387 | c.278 others(19): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ZNF407_chr18_74592870_75070671 | 74676697 | ATGCTGGG others(1380): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 92 | 0.0109 | -1387 | c.480 others(21): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| B3GALT4_chr6_33272123_33283825 | 33280891 | TGCTCCAT others(1379): Show |
T | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 363 | 0.0028 | -1386 | c.*23 others(11): Show |
B3GALT4 | ENSG00000235863.4 | transcript | ENST00000451237.3 | protein_coding | 2067 | chr6 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565692 | TCTGTCTG others(1379): Show |
T | intron_variant | MODIFIER | HG02129.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293a0001c0001t0002g0300 | 2 | 340 | 0.0059 | -1386 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686544 | GGGGCCCC others(1379): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0251 | 1 | 362 | 0.0028 | -1386 | c.981 others(15): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| SFI1_chr22_31491536_31623588 | 31591641 | CGGGGGGC others(1379): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG03139.hp1 others(5): Show |
a0003a0012a0025 | a0003c0003a0003c0033a0012c0012others(1): Show | a0003c0003t0001a0003c0033t0001a0012c0012t0001others(1): Show | a0003c0003t0001g0164a0003c0003t0001g0168a0003c0003t0001g0183others(5): Show | 8 | 322 | 0.0248 | -1386 | c.154 others(19): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SPDYE3_chr7_100302702_100327196 | 100308896 | ATGGTTTG others(1379): Show |
A | exon_loss_variant others(4): Show |
HIGH | NA20752.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0151 | 1 | 344 | 0.0029 | -1386 | c.325 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SPDYE3_chr7_100302702_100327196 | 100309536 | AGTGACAG others(1379): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG01074.hp2 HG01168.hp1 HG01169.hp2 others(1): Show |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0017a0002c0008t0001g0073 | 4 | 344 | 0.0116 | -1386 | c.325 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| WDR46_chr6_33274108_33294239 | 33280891 | TGCTCCAT others(1379): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG03209.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0065 | 1 | 373 | 0.0027 | -1386 | c.111 others(14): Show |
p.Tyr others(13): Show |
WDR46 | ENSG00000227057.10 | transcript | ENST00000374617.9 | protein_coding | 11/15 | 1280/2070 | 1116/1833 | 372/610 | chr6 | TogoVar | ||
| DACT2_chr6_168301904_168324777 | 168316376 | TGTGTGTA others(1378): Show |
T | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 NA18952.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0009 | a0001c0001t0001a0002c0003t0003a0002c0009t0005 | a0001c0001t0001g0307a0002c0003t0003g0040a0002c0009t0005g0308 | 4 | 476 | 0.0084 | -1385 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316488 | CGTGTGTA others(1378): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp2 others(33): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0050a0001c0001t0001g0060others(20): Show | 36 | 476 | 0.0756 | -1385 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| JMJD1C_chr10_63162225_63470977 | 63270250 | TCTGCCTC others(1378): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0156 | 1 | 310 | 0.0032 | -1385 | c.334 others(17): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316375 | ATGTGTGT others(1376): Show |
A | intron_variant | MODIFIER | HG02155.hp1 HG02615.hp2 HG03540.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0005c0007t0004 | a0001c0001t0002g0155a0005c0007t0004g0131a0005c0007t0004g0164 | 3 | 476 | 0.0063 | -1383 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316487 | ACGTGTGT others(1376): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02647.hp1 HG03579.hp2 others(2): Show |
a0002a0003a0005 | a0002c0002a0003c0004a0005c0007 | a0002c0002t0005a0002c0002t0012a0003c0004t0004others(1): Show | a0002c0002t0005g0302a0002c0002t0012g0086a0003c0004t0004g0037others(1): Show | 5 | 476 | 0.0105 | -1383 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| SNX1_chr15_64090982_64149231 | 64147848 | GGCACCTG others(1376): Show |
G | downstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0136 | 1 | 270 | 0.0037 | -1383 | c.*10 others(13): Show |
SNX1 | ENSG00000028528.15 | transcript | ENST00000559844.6 | protein_coding | 3618 | chr15 | TogoVar | ||||||
| TMEM245_chr9_109010135_109124947 | 109041531 | TTGGCTCA others(1375): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0069 | a0001c0001t0040g0271a0001c0001t0040g0272a0001c0001t0069g0173 | 3 | 422 | 0.0071 | -1382 | c.212 others(19): Show |
TMEM245 | ENSG00000106771.13 | transcript | ENST00000374586.8 | protein_coding | 14/17 | chr9 | TogoVar | ||||||
| TRIP13_chr5_887884_923120 | 898470 | GTCAGTGT others(1375): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0213 | 1 | 402 | 0.0025 | -1382 | c.388 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DCAF8L2_chrX_27585344_27754942 | 27696695 | GTTTTTCA others(1374): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02257.hp2 HG02723.hp1 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0017a0002c0002a0003c0032others(2): Show | a0001c0017t0001a0002c0002t0002a0003c0032t0001others(2): Show | a0001c0017t0001g0122a0002c0002t0002g0127a0003c0032t0001g0120others(2): Show | 5 | 262 | 0.0191 | -1381 | c.-14 others(21): Show |
DCAF8L2 | ENSG00000189186.11 | transcript | ENST00000451261.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CYP4F11_chr19_15907377_15939529 | 15932461 | CGGGGAGA others(1373): Show |
C | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0296 | 1 | 386 | 0.0026 | -1380 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15932485 | GAGAGGAA others(1373): Show |
G | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0237 | 1 | 386 | 0.0026 | -1380 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15932525 | GAGAAGAA others(1373): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0004 | a0004c0007 | a0004c0007t0031 | a0004c0007t0031g0201 | 1 | 386 | 0.0026 | -1380 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1398924 | ACCTCCTC others(1373): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -1380 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| KLLN_chr10_87854158_87868533 | 87858623 | GGAGACTC others(1372): Show |
G | splice_region_variant | LOW | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0000 | 1 | 430 | 0.0023 | -1379 | c.*19 others(11): Show |
KLLN | ENSG00000227268.5 | transcript | ENST00000445946.5 | protein_coding | 1/1 | chr10 | TogoVar |