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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPYSL4_chr10_132181948_132210759 | 132191518 | AGTTCCCA others(322): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(167): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0004a0001c0001t0001g0015a0001c0001t0001g0022others(93): Show | 170 | 418 | 0.4067 | -329 | c.128 others(15): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DPYSL4_chr10_132181948_132210759 | 132191548 | CATGGTAT others(322): Show |
C | intron_variant | MODIFIER | HG03041.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0008a0001c0013t0008 | a0001c0001t0008g0199a0001c0013t0008g0086 | 2 | 418 | 0.0048 | -329 | c.128 others(15): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315733 | TACCACCA others(322): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 250 | 0.0040 | -329 | c.259 others(19): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805673 | TCCCCCCT others(322): Show |
T | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01261.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0069a0001c0001t0001g0164a0001c0001t0001g0199others(8): Show | 11 | 314 | 0.0350 | -329 | c.*15 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1387 | chr2 | TogoVar | ||||||
GIPC3_chr19_3580478_3598541 | 3581049 | GGCCTCCC others(322): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(92): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0014others(39): Show | 95 | 430 | 0.2209 | -329 | c.-45 others(11): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 4428 | chr19 | TogoVar | ||||||
GIPC3_chr19_3580478_3598541 | 3581061 | TGCTGGGA others(322): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0067 | a0001c0002t0067g0085 | 1 | 430 | 0.0023 | -329 | c.-45 others(11): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 4416 | chr19 | TogoVar | ||||||
GRM5_chr11_88499642_89070982 | 88815914 | TAAGAAAT others(322): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0003g0028a0001c0001t0003g0107a0001c0001t0003g0130others(6): Show | 9 | 184 | 0.0489 | -329 | c.911 others(19): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
HIF3A_chr19_46292042_46348433 | 46293547 | TTAAGAGA others(322): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp1 others(89): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(24): Show | a0001c0001t0001g0064a0001c0001t0001g0066a0001c0001t0001g0087others(89): Show | 92 | 418 | 0.2201 | -329 | c.-35 others(11): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 3494 | chr19 | TogoVar | ||||||
HMG20B_chr19_3567944_3584083 | 3581049 | GGCCTCCC others(322): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(82): Show |
a0000a0001a0004 | a0000c0002a0001c0001a0004c0004 | a0000c0002t0001a0000c0002t0002a0001c0001t0001others(5): Show | a0000c0002t0001g0003a0000c0002t0001g0009a0000c0002t0002g0021others(28): Show | 85 | 406 | 0.2094 | -329 | c.*25 others(11): Show |
HMG20B | ENSG00000064961.19 | transcript | ENST00000333651.11 | protein_coding | 1967 | chr19 | TogoVar | ||||||
HMG20B_chr19_3567944_3584083 | 3581061 | TGCTGGGA others(322): Show |
T | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 406 | 0.0025 | -329 | c.*25 others(11): Show |
HMG20B | ENSG00000064961.19 | transcript | ENST00000333651.11 | protein_coding | 1979 | chr19 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1365877 | AGCCGGGT others(322): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036a0001c0001t0003g0107 | 2 | 115 | 0.0174 | -329 | c.874 others(15): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KIF26B_chr1_245149985_245714432 | 245618628 | CTCCTGGG others(322): Show |
C | intron_variant | MODIFIER | HG03139.hp2 NA19043.hp2 |
a0002a0012 | a0002c0008a0012c0045 | a0002c0008t0004a0012c0045t0001 | a0002c0008t0004g0089a0012c0045t0001g0078 | 2 | 160 | 0.0125 | -329 | c.209 others(19): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KNTC1_chr12_122522249_122631396 | 122525791 | TCAACGAA others(322): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(261): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0002a0001c0010others(31): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0011others(257): Show | 264 | 320 | 0.8250 | -329 | c.-16 others(11): Show |
KNTC1 | ENSG00000184445.12 | transcript | ENST00000333479.12 | protein_coding | 1457 | chr12 | TogoVar | ||||||
LRRN1_chr3_3794431_3854834 | 3831520 | TAAGACTA others(322): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(413): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(104): Show | a0001c0001t0001g0005a0001c0001t0001g0039a0001c0001t0001g0083others(385): Show | 416 | 422 | 0.9858 | -329 | c.-27 others(21): Show |
LRRN1 | ENSG00000175928.6 | transcript | ENST00000319331.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MAST2_chr1_45798612_46041122 | 45900435 | TGATGTTG others(322): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(253): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0015a0001c0025others(28): Show | a0001c0001t0001a0001c0015t0001a0001c0025t0001others(29): Show | a0001c0001t0001g0056a0001c0001t0001g0139a0001c0001t0001g0140others(253): Show | 256 | 288 | 0.8889 | -329 | c.500 others(19): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MCM8_chr20_5945652_6003977 | 5962341 | AGCCTTCA others(322): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(188): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0008a0001c0022others(15): Show | a0001c0001t0121a0001c0001t0133a0001c0001t0134others(93): Show | a0001c0001t0121g0207a0001c0001t0133g0198a0001c0001t0134g0199others(165): Show | 191 | 366 | 0.5219 | -329 | c.790 others(15): Show |
MCM8 | ENSG00000125885.13 | transcript | ENST00000610722.4 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MCTP1_chr5_94698690_95290094 | 94773920 | TGAAATAG others(322): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01071.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(35): Show | a0001c0001t0003g0018a0001c0001t0007g0034a0001c0001t0009g0006others(52): Show | 55 | 98 | 0.5612 | -329 | c.261 others(19): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 19/22 | chr5 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57688146 | ATACACAT others(322): Show |
A | downstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 352 | 0.0028 | -329 | c.*36 others(11): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2783 | chr15 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241805673 | TCCCCCCT others(322): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01169.hp1 HG01884.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0040a0001c0001t0003g0043a0001c0001t0003g0130others(7): Show | 10 | 319 | 0.0314 | -329 | c.-36 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3519 | chr2 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241805750 | CTCCCCCC others(322): Show |
C | upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 319 | 0.0031 | -329 | c.-35 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3442 | chr2 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1025589 | TCAGCCCG others(322): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01106.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0161a0001c0001t0001g0215 | 3 | 319 | 0.0094 | -329 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NME7_chr1_169127531_169372797 | 169190782 | AGCAAGTG others(322): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(123): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0140a0001c0001t0002g0013a0001c0001t0002g0014others(123): Show | 126 | 302 | 0.4172 | -329 | c.991 others(19): Show |
NME7 | ENSG00000143156.14 | transcript | ENST00000367811.8 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132155863 | CACCACTA others(322): Show |
C | downstream_gene_variant | MODIFIER | NA19070.hp2 | a0004 | a0004c0030 | a0004c0030t0001 | a0004c0030t0001g0287 | 1 | 294 | 0.0034 | -329 | c.*34 others(11): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 3396 | chr12 | TogoVar | ||||||
PAK4_chr19_39120786_39184404 | 39134448 | GAATTACA others(322): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02965.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0021a0001c0002t0007g0022a0001c0002t0007g0023others(1): Show | 4 | 368 | 0.0109 | -329 | c.-96 others(17): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PPP2R5E_chr14_63366364_63548377 | 63420755 | CAAAAAGT others(322): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG01074.hp2 others(69): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0136a0001c0001t0001g0160a0001c0001t0001g0175others(69): Show | 72 | 252 | 0.2857 | -329 | c.456 others(16): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 4/13 | chr14 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51818710 | TAAAAGAA others(322): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp1 HG01243.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0062others(24): Show | 27 | 64 | 0.4219 | -329 | c.698 others(19): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PTCH1_chr9_95437980_95514266 | 95503732 | TAGGGCCG others(322): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(148): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0004others(22): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(58): Show | a0001c0002t0002g0196a0001c0002t0002g0197a0001c0002t0002g0255others(139): Show | 151 | 284 | 0.5317 | -329 | c.394 others(17): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000331920.11 | protein_coding | 2/23 | chr9 | TogoVar | ||||||
PTCH1_chr9_95437980_95521971 | 95503732 | TAGGGCCG others(322): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(145): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0004others(23): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(53): Show | a0001c0002t0001g0254a0001c0002t0002g0147a0001c0002t0002g0195others(137): Show | 148 | 278 | 0.5324 | -329 | c.391 others(17): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000437951.6 | protein_coding | 2/23 | chr9 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12851183 | TAATAATA others(322): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(250): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0136others(250): Show | 253 | 370 | 0.6838 | -329 | c.160 others(17): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 2/8 | chr18 | TogoVar | ||||||
PTPRH_chr19_55176247_55214501 | 55208563 | TTGGGGGC others(322): Show |
T | intron_variant | MODIFIER | HG01099.hp1 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0037 | 1 | 378 | 0.0027 | -329 | c.51+ others(13): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
RSRC2_chr12_122498454_122531936 | 122525791 | TCAACGAA others(322): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(320): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(191): Show | 323 | 382 | 0.8456 | -329 | c.6+7 others(12): Show |
RSRC2 | ENSG00000111011.18 | transcript | ENST00000331738.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1070807 | GGCATCAC others(322): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0030 | 1 | 118 | 0.0085 | -329 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC35F4_chr14_57558920_57871092 | 57737263 | CCAGTCAG others(322): Show |
C | intron_variant | MODIFIER | HG03225.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0145a0001c0001t0004g0002 | 2 | 218 | 0.0092 | -329 | c.103 others(21): Show |
SLC35F4 | ENSG00000151812.15 | transcript | ENST00000556826.6 | protein_coding | 1/7 | chr14 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245992515 | CCATGGAT others(322): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(62): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0019others(62): Show | 65 | 150 | 0.4333 | -329 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7706442 | GGATGAGG others(322): Show |
G | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 168 | 0.0060 | -329 | c.186 others(19): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SSBP2_chr5_81407804_81756097 | 81455323 | TAAATCCT others(322): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(124): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(124): Show | 127 | 206 | 0.6165 | -329 | c.711 others(17): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 10/16 | chr5 | TogoVar | ||||||
STAU2_chr8_73415369_73751840 | 73720482 | TTAGTTTA others(322): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(95): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0016others(95): Show | 98 | 240 | 0.4083 | -329 | c.-17 others(19): Show |
STAU2 | ENSG00000040341.18 | transcript | ENST00000524300.6 | protein_coding | 3/14 | chr8 | TogoVar | ||||||
THBS3_chr1_155190588_155212897 | 155190622 | TGTCCGGG others(322): Show |
T | downstream_gene_variant | MODIFIER | HG02735.hp1 HG03688.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 298 | 0.0101 | -329 | c.*48 others(11): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4965 | chr1 | TogoVar | ||||||
TM6SF1_chr15_83102645_83142408 | 83105121 | GAGAGAAA others(322): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(124): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0006a0003c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(56): Show | 127 | 290 | 0.4379 | -329 | c.-25 others(11): Show |
TM6SF1 | ENSG00000136404.16 | transcript | ENST00000322019.14 | protein_coding | 2523 | chr15 | TogoVar | ||||||
TRPS1_chr8_115403496_115673975 | 115475989 | TCAGAAAA others(322): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(86): Show | a0001c0001t0001g0062a0001c0001t0001g0066a0001c0001t0001g0068others(147): Show | 150 | 192 | 0.7813 | -329 | c.270 others(21): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | ||||||
WASF2_chr1_27399230_27495167 | 27477601 | TTAAAAAT others(322): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(99): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(38): Show | a0001c0001t0003g0011a0001c0001t0003g0069a0001c0001t0003g0070others(99): Show | 102 | 260 | 0.3923 | -329 | c.-44 others(19): Show |
WASF2 | ENSG00000158195.11 | transcript | ENST00000618852.5 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
ZNF16_chr8_144925358_144955880 | 144947007 | TGGGCCTG others(322): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02258.hp2 others(6): Show |
a0001a0009 | a0001c0001a0009c0026 | a0001c0001t0001a0009c0026t0001 | a0001c0001t0001g0023a0001c0001t0001g0203a0001c0001t0001g0204others(5): Show | 9 | 404 | 0.0223 | -329 | c.-9- others(14): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179313277 | CGCATTCA others(321): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00621.hp1 others(48): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0018others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(30): Show | a0001c0001t0001g0011a0001c0001t0001g0054a0001c0001t0004g0103others(48): Show | 51 | 276 | 0.1848 | -328 | c.534 others(19): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38468859 | TAGAACAT others(321): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(138): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0056others(138): Show | 141 | 288 | 0.4896 | -328 | c.591 others(17): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
ARHGAP24_chr4_85470150_86007666 | 85875089 | ATTTATCT others(321): Show |
A | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0013 | 1 | 108 | 0.0093 | -328 | c.269 others(19): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144634144 | AGAACTCC others(321): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02622.hp1 |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0005c0013t0002 | a0001c0001t0001g0077a0001c0001t0001g0211a0005c0013t0002g0195 | 3 | 246 | 0.0122 | -328 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1638531 | ACATGAGG others(321): Show |
A | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 223 | 0.0045 | -328 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1639189 | CCATGAGG others(321): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 223 | 0.0045 | -328 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1640248 | CTCCTGAT others(321): Show |
C | intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0187 | 1 | 223 | 0.0045 | -328 | c.911 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79326009 | CCCTCCCG others(321): Show |
C | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0121 | 1 | 298 | 0.0034 | -328 | c.177 others(19): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |