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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNPNAT1_chr14_52770193_52796607 | 52785748 | AGCCTTTT others(2606): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02132.hp2 NA18940.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0028 a0001c0001t0003g0029 others(2): Show |
23 | 388 | 0.0593 | -2613 | c.-15 others(17): Show |
GNPNAT1 | ENSG00000100522.10 | transcript | ENST00000216410.8 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
AMDHD1_chr12_95938331_95973720 | 95946567 | TAAGAGAC others(2602): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(319): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(229): Show |
322 | 402 | 0.8010 | -2609 | c.137 others(17): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1343315 | GGCAGCTT others(2600): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG02886.hp1 HG02970.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0085 |
3 | 176 | 0.0170 | -2607 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1343270 | TTTTCCCC others(2599): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 188 | 0.0053 | -2606 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KIAA1671_chr22_24947716_25202448 | 25054080 | GTGCCTGT others(2598): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01192.hp2 others(17): Show |
a0001a0002a0004 | a0001c0009a0001c0017a0001c0032others(10): Show | a0001c0009t0002a0001c0009t0034a0001c0017t0002others(12): Show | a0001c0009t0002g0101 a0001c0009t0002g0162 a0001c0009t0002g0180 others(17): Show |
20 | 252 | 0.0794 | -2605 | c.453 others(19): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 75000048 | TGTAGTCC others(2596): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 234 | 0.0043 | -2603 | c.262 others(21): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UIMC1_chr5_176900006_177011779 | 176960578 | TAAAAAAA others(2595): Show |
T | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 121 | 0.0083 | -2602 | c.120 others(19): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 6/14 | chr5 | TogoVar | |||||||
UIMC1_chr5_176900006_177011779 | 176960578 | TAAAAAAA others(2594): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(201): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0003a0003c0004others(3): Show | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(8): Show | a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0011 others(199): Show |
204 | 324 | 0.6296 | -2601 | c.120 others(19): Show |
UIMC1 | ENSG00000087206.17 | transcript | ENST00000511320.6 | protein_coding | 6/14 | chr5 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56893548 | TCCTACTT others(2593): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01074.hp1 others(44): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0005a0001c0058others(31): Show | a0001c0001t0001a0001c0005t0001a0001c0058t0001others(32): Show | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0005t0001g0079 others(44): Show |
47 | 82 | 0.5732 | -2600 | c.417 others(17): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 3/103 | chr6 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70688979 | AAGCCACT others(2592): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00738.hp1 others(28): Show |
a0001a0003a0004others(5): Show | a0001c0002a0001c0004a0001c0007others(16): Show | a0001c0002t0018a0001c0002t0041a0001c0004t0009others(19): Show | a0001c0002t0018g0040 a0001c0002t0018g0045 a0001c0002t0041g0025 others(28): Show |
31 | 352 | 0.0881 | -2599 | c.523 others(19): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1429644 | CGGTCTGG others(2592): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG01975.hp1 HG01978.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0002c0002t0002 | a0001c0001t0004g0171 a0001c0001t0004g0311 a0001c0001t0004g0313 others(4): Show |
7 | 346 | 0.0202 | -2599 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1429671 | TCAGCAGT others(2592): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0288 | 1 | 319 | 0.0031 | -2599 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTGER3_chr1_70965782_71052816 | 71021492 | GGGTGACA others(2591): Show |
G | intron_variant | MODIFIER | HG03209.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0314 |
2 | 370 | 0.0054 | -2598 | c.898 others(18): Show |
PTGER3 | ENSG00000050628.21 | transcript | ENST00000306666.10 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
ABHD4_chr14_22593300_22617963 | 22612377 | TAAAATTG others(2590): Show |
T | splice_region_variant | LOW | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0041 | 1 | 422 | 0.0024 | -2597 | c.*14 others(11): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 7/7 | chr14 | TogoVar | |||||||
FCGR1A_chr1_149777694_149796675 | 149793568 | GAGGAATC others(2590): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG03471.hp2 |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0001a0006c0008t0004 | a0002c0002t0001g0055 a0006c0008t0004g0079 a0006c0008t0004g0082 |
3 | 412 | 0.0073 | -2597 | c.*20 others(11): Show |
FCGR1A | ENSG00000150337.14 | transcript | ENST00000369168.5 | protein_coding | 1894 | chr1 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1430118 | GTCTGGTC others(2588): Show |
G | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 344 | 0.0029 | -2595 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
PPP2R2B_chr5_146575742_146883757 | 146802276 | AGGTCAGT others(2585): Show |
A | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0064 | 1 | 168 | 0.0060 | -2592 | c.70+ others(17): Show |
PPP2R2B | ENSG00000156475.19 | transcript | ENST00000394411.9 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
DEFA1B_chr8_6991766_7004198 | 7001607 | AGGGCTTC others(2584): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | -2591 | c.-50 others(11): Show |
DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 2410 | chr8 | TogoVar | |||||||
KIAA1522_chr1_32736830_32779970 | 32776178 | GCTCTTGT others(2584): Show |
G | downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 346 | 0.0029 | -2591 | c.*32 others(11): Show |
KIAA1522 | ENSG00000162522.11 | transcript | ENST00000401073.7 | protein_coding | 1209 | chr1 | TogoVar | |||||||
YARS1_chr1_32770239_32822358 | 32776178 | GCTCTTGT others(2584): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 330 | 0.0030 | -2591 | c.147 others(16): Show |
YARS1 | ENSG00000134684.13 | transcript | ENST00000373477.9 | protein_coding | 12/12 | chr1 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131990436 | AAATGTTG others(2583): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0026 others(16): Show |
19 | 92 | 0.2065 | -2590 | c.-2+ others(17): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
OR10P1_chr12_55631892_55642833 | 55638090 | GCATCTTC others(2583): Show |
G | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02622.hp2 HG03516.hp2 others(2): Show |
a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0000 | 5 | 436 | 0.0115 | -2590 | c.*25 others(10): Show |
OR10P1 | ENSG00000175398.3 | transcript | ENST00000309675.3 | protein_coding | 258 | chr12 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9275629 | AGAGGCCA others(2571): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 186 | 0.0054 | -2578 | c.644 others(19): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
ITIH6_chrX_54743918_54803255 | 54767069 | CTGTTATT others(2569): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0011 | a0011c0020 | a0011c0020t0002 | a0011c0020t0002g0046 | 1 | 294 | 0.0034 | -2576 | c.903 others(17): Show |
ITIH6 | ENSG00000102313.9 | transcript | ENST00000218436.7 | protein_coding | 6/12 | chrX | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12103349 | GCTTTTCT others(2569): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 262 | 0.0038 | -2576 | c.378 others(19): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | chr3 | TogoVar | |||||||
NCAM1_chr11_112956420_113283436 | 113116653 | CAAGACTG others(2565): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0199 a0001c0001t0014g0200 |
2 | 242 | 0.0083 | -2572 | c.53- others(17): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC2A11_chr22_23852875_23891312 | 23853746 | TGAAAAAA others(2565): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0014others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0018 others(209): Show |
282 | 414 | 0.6812 | -2572 | c.-42 others(11): Show |
SLC2A11 | ENSG00000133460.20 | transcript | ENST00000316185.9 | protein_coding | 4128 | chr22 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61600302 | TCCTCTAA others(2564): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02723.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0019 a0001c0001t0002g0040 a0001c0001t0007g0179 others(7): Show |
10 | 256 | 0.0391 | -2571 | c.976 others(19): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 14/24 | chr8 | TogoVar | |||||||
ZNF880_chr19_52364923_52390795 | 52385560 | TGTATGCT others(2562): Show |
T | splice_region_variant | LOW | HG01358.hp2 | a0006 | a0006c0007 | a0006c0007t0005 | a0006c0007t0005g0003 | 1 | 456 | 0.0022 | -2569 | c.*24 others(10): Show |
ZNF880 | ENSG00000221923.9 | transcript | ENST00000422689.3 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ZNF880_chr19_52364923_52390795 | 52385562 | TATGCTGA others(2562): Show |
T | splice_region_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(77): Show |
a0001a0003a0006others(3): Show | a0001c0001a0003c0003a0003c0023others(4): Show | a0001c0001t0001a0003c0003t0001a0003c0023t0001others(4): Show | a0001c0001t0001g0144 a0003c0003t0001g0003 a0003c0003t0001g0008 others(42): Show |
80 | 456 | 0.1754 | -2569 | c.*24 others(10): Show |
ZNF880 | ENSG00000221923.9 | transcript | ENST00000422689.3 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1397201 | TGAGTCGA others(2559): Show |
T | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0005 | 1 | 40 | 0.0250 | -2566 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1374360 | ACTGCCCA others(2558): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0037 |
2 | 111 | 0.0180 | -2565 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1371040 | ACACAGGG others(2557): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 112 | 0.0089 | -2564 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1374060 | GACCCTGT others(2557): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 113 | 0.0088 | -2564 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FRMPD4_chrX_12133473_12729523 | 12416131 | CTTCTCTT others(2556): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 174 | 0.0057 | -2563 | c.42- others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1373839 | ACACAGGG others(2555): Show |
A | intron_variant | MODIFIER | HG02451.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0105 |
2 | 112 | 0.0179 | -2562 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1373998 | CCTGAAAC others(2554): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 113 | 0.0088 | -2561 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 745041 | CCCCGGGG others(2554): Show |
C | intron_variant | MODIFIER | NA18954.hp1 NA18966.hp2 NA18969.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0040 | a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0228 others(1): Show |
4 | 363 | 0.0110 | -2561 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CTSB_chr8_11837524_11873087 | 11863414 | ACACCACT others(2553): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0092 | a0001c0004t0092g0338 | 1 | 436 | 0.0023 | -2560 | c.-26 others(17): Show |
CTSB | ENSG00000164733.23 | transcript | ENST00000353047.11 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
FBXO36_chr2_229917503_230018119 | 230012400 | TGCTGGAG others(2553): Show |
T | splice_region_variant | LOW | HG00639.hp2 HG06807.hp1 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0023 a0002c0002t0007g0024 |
2 | 340 | 0.0059 | -2560 | c.*15 others(11): Show |
FBXO36 | ENSG00000153832.12 | transcript | ENST00000283946.8 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ZNF462_chr9_106858166_107018634 | 106977212 | CCTTGCAA others(2552): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG02622.hp2 others(5): Show |
a0001a0006 | a0001c0002a0001c0006a0001c0020others(1): Show | a0001c0002t0005a0001c0002t0009a0001c0002t0040others(3): Show | a0001c0002t0005g0043 a0001c0002t0005g0136 a0001c0002t0005g0160 others(5): Show |
8 | 190 | 0.0421 | -2559 | c.683 others(19): Show |
ZNF462 | ENSG00000148143.13 | transcript | ENST00000277225.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33319775 | CCAGGCTT others(2551): Show |
C | exon_loss_variant others(3): Show |
HIGH | HG00735.hp1 NA19007.hp1 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0056 a0004c0008t0001g0057 |
2 | 416 | 0.0048 | -2558 | c.-12 others(13): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PHC2_chr1_33318626_33436095 | 33319775 | CCAGGCTT others(2551): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02004.hp1 HG02300.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 a0001c0002t0001g0161 a0001c0002t0001g0162 others(1): Show |
4 | 368 | 0.0109 | -2558 | c.*25 others(11): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 3850 | chr1 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1639818 | CTCCTGTG others(2550): Show |
C | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 221 | 0.0045 | -2557 | c.911 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
WDR72_chr15_53508741_53764663 | 53682261 | GAGATCCA others(2549): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0027 | a0002c0027t0004 | a0002c0027t0004g0252 | 1 | 314 | 0.0032 | -2556 | c.176 others(21): Show |
WDR72 | ENSG00000166415.15 | transcript | ENST00000360509.10 | protein_coding | 13/19 | chr15 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1638694 | ACATGAGG others(2546): Show |
A | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0030 | 1 | 216 | 0.0046 | -2553 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GPC6_chr13_93221807_94413020 | 93488931 | GCTGATGG others(2543): Show |
G | intron_variant | MODIFIER | HG00558.hp2 NA19091.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0003 | a0001c0003t0003g0063 a0002c0002t0003g0016 |
2 | 76 | 0.0263 | -2550 | c.161 others(19): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NRG3_chr10_81870194_82992178 | 82368058 | GTTTTCTT others(2543): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG01071.hp1 HG01081.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0051 others(25): Show |
28 | 66 | 0.4242 | -2550 | c.953 others(18): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3725583 | TCGGGAGG others(2541): Show |
T | intron_variant | MODIFIER | HG00408.hp1 NA18942.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0219 a0003c0003t0001g0299 |
2 | 396 | 0.0051 | -2548 | c.-9- others(14): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
CTXND2_chr1_150882136_150918292 | 150887787 | AGTATTTT others(2540): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0181 | 1 | 370 | 0.0027 | -2547 | c.-74 others(16): Show |
CTXND2 | ENSG00000283324.1 | transcript | ENST00000636087.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |