| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KIAA1522_chr1_32736830_32779970 | 32760811 | GAACTCCT others(1992): Show |
G | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0226 | 1 | 346 | 0.0029 | -1999 | c.236 others(17): Show |
KIAA1522 | ENSG00000162522.11 | transcript | ENST00000401073.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| GPR39_chr2_132411805_132651582 | 132488843 | TCAGCACC others(1990): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0024 | 1 | 208 | 0.0048 | -1997 | c.856 others(19): Show |
GPR39 | ENSG00000183840.8 | transcript | ENST00000329321.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SLC44A5_chr1_75197129_75616114 | 75409676 | ATTGATAT others(1990): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 154 | 0.0065 | -1997 | c.14- others(17): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 2/23 | chr1 | TogoVar | |||||||
| ATP11A_chr13_112685038_112892168 | 112787407 | GTGTAGAC others(1989): Show |
G | intron_variant | MODIFIER | HG00408.hp2 NA18966.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0038 | a0001c0002t0002g0089 a0001c0005t0038g0172 |
2 | 252 | 0.0079 | -1996 | c.162 others(17): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| CDK14_chr7_90591321_91215590 | 91118896 | CCATGTCA others(1989): Show |
C | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 166 | 0.0060 | -1996 | c.*28 others(16): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| DOK6_chr18_69395888_69854087 | 69482342 | TTTAAACT others(1989): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0168 | 1 | 168 | 0.0060 | -1996 | c.66+ others(17): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408124 | GCAGGAGG others(1988): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0078 | 1 | 74 | 0.0135 | -1995 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
| ASMTL_chrX_1398139_1457909 | 1408229 | GCAGGAGG others(1988): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01123.hp1 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0002c0004others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0004t0001others(10): Show | a0001c0001t0001g0054 a0001c0001t0001g0131 a0002c0003t0001g0008 others(22): Show |
25 | 148 | 0.1689 | -1995 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
| ERC1_chr12_986223_1500931 | 1088904 | GAAAGTGC others(1988): Show |
G | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0130 | 1 | 160 | 0.0063 | -1995 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | chr12 | TogoVar | |||||||
| LHX4_chr1_180225264_180283984 | 180259322 | AATGCCTG others(1988): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01891.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0030 a0001c0001t0010g0049 a0001c0001t0010g0065 others(1): Show |
5 | 400 | 0.0125 | -1995 | c.249 others(17): Show |
LHX4 | ENSG00000121454.6 | transcript | ENST00000263726.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PCSK5_chr9_75885673_76367975 | 76304743 | CATTTTAG others(1988): Show |
C | intron_variant | MODIFIER | HG03486.hp1 HG03516.hp1 NA19030.hp2 |
a0022a0027 | a0022c0028a0027c0027 | a0022c0028t0062a0027c0027t0005a0027c0027t0057 | a0022c0028t0062g0074 a0027c0027t0005g0013 a0027c0027t0057g0043 |
3 | 164 | 0.0183 | -1995 | c.360 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238228 | CCCCTCTG others(1987): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0042 | 1 | 105 | 0.0095 | -1994 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1400411 | AGGGTAGT others(1987): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 40 | 0.0250 | -1994 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| EYS_chr6_63714980_65712226 | 65550134 | CTACTATA others(1987): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG02451.hp1 HG02451.hp2 others(19): Show |
a0001a0002a0003others(16): Show | a0001c0002a0001c0019a0002c0009others(19): Show | a0001c0002t0002a0001c0019t0001a0002c0009t0001others(19): Show | a0001c0002t0002g0019 a0001c0019t0001g0006 a0002c0009t0001g0012 others(19): Show |
22 | 24 | 0.9167 | -1994 | c.-33 others(21): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | |||||||
| CTXND2_chr1_150882136_150918292 | 150915759 | CGGTGAAA others(1986): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 369 | 0.0027 | -1993 | c.*32 others(11): Show |
CTXND2 | ENSG00000283324.1 | transcript | ENST00000636087.1 | protein_coding | 2468 | chr1 | TogoVar | |||||||
| BCL2L13_chr22_17633757_17735855 | 17643915 | CTTTTTTA others(1985): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0042 | a0001c0002t0012g0008 a0001c0002t0012g0009 a0001c0002t0012g0300 others(2): Show |
5 | 304 | 0.0164 | -1992 | c.-51 others(17): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
| FAM162B_chr6_116747197_116770719 | 116748518 | ATTTCTTA others(1985): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 472 | 0.0021 | -1992 | c.*20 others(11): Show |
FAM162B | ENSG00000183807.8 | transcript | ENST00000368557.6 | protein_coding | 3678 | chr6 | TogoVar | |||||||
| IL31_chr12_122167029_122179221 | 122167940 | TAGTAGCT others(1985): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | -1992 | c.*24 others(11): Show |
IL31 | ENSG00000204671.2 | transcript | ENST00000377035.2 | protein_coding | 4088 | chr12 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(1985): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02015.hp1 HG02559.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007a0002c0002t0017others(1): Show | a0002c0002t0001g0249 a0002c0002t0007g0310 a0002c0002t0017g0260 others(1): Show |
4 | 313 | 0.0128 | -1992 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744984 | CCCGGGGG others(1985): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0324 | 1 | 339 | 0.0029 | -1992 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| VPS28_chr8_144418617_144433548 | 144420175 | GTCTCTAC others(1985): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01070.hp2 HG01175.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 12 | 406 | 0.0296 | -1992 | c.*16 others(11): Show |
VPS28 | ENSG00000160948.14 | transcript | ENST00000292510.6 | protein_coding | 3441 | chr8 | TogoVar | |||||||
| C19orf47_chr19_40314536_40353397 | 40350282 | AACTGCAT others(1983): Show |
A | upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 382 | 0.0026 | -1990 | c.-39 others(11): Show |
C19orf47 | ENSG00000160392.14 | transcript | ENST00000683109.1 | protein_coding | 1886 | chr19 | TogoVar | |||||||
| FAM149A_chr4_186099704_186180337 | 186173611 | CCTCCCAA others(1983): Show |
C | splice_region_variant | LOW | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(92): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0005a0001c0010others(11): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(23): Show | a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 others(91): Show |
95 | 384 | 0.2474 | -1990 | c.*16 others(11): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
| PLD3_chr19_40343695_40383485 | 40350282 | AACTGCAT others(1983): Show |
A | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 362 | 0.0028 | -1990 | c.-27 others(19): Show |
PLD3 | ENSG00000105223.21 | transcript | ENST00000409735.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| ADCY8_chr8_130775301_131045909 | 130838502 | GAGAAACT others(1981): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00639.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0169 a0001c0001t0003g0042 a0001c0001t0003g0153 others(45): Show |
49 | 244 | 0.2008 | -1988 | c.250 others(19): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 11/17 | chr8 | TogoVar | |||||||
| VAPA_chr18_9909016_9965021 | 9932977 | GGGCGCCT others(1980): Show |
G | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0050 a0001c0001t0008g0051 |
2 | 384 | 0.0052 | -1987 | c.232 others(17): Show |
VAPA | ENSG00000101558.14 | transcript | ENST00000400000.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 357348 | TGGAGGCC others(1977): Show |
T | intron_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0004 | a0003c0004t0028 | a0003c0004t0028g0217 | 1 | 266 | 0.0038 | -1984 | c.244 others(17): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| NCK2_chr2_105739912_105899272 | 105822290 | ATCAGCTT others(1976): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0321 |
3 | 332 | 0.0090 | -1983 | c.-17 others(17): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| EXOC4_chr7_133248078_134070761 | 133422573 | AAACTGCA others(1974): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0082 | 1 | 100 | 0.0100 | -1981 | c.118 others(21): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| AHNAK2_chr14_104932253_104983374 | 104944681 | TGCCTTGG others(1973): Show |
T | disruptive_inframe_deletion | MODERATE | HG02273.hp2 | a0064 | a0064c0079 | a0064c0079t0002 | a0064c0079t0002g0085 | 1 | 354 | 0.0028 | -1980 | c.879 others(10): Show |
p.Glu others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10906/18335 | 8790/17388 | 2930/5795 | chr14 | TogoVar | |||
| AHNAK2_chr14_104932253_104983374 | 104948404 | CTCCACCT others(1973): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0004 | 1 | 354 | 0.0028 | -1980 | c.506 others(9): Show |
p.Ala others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7183/18335 | 5067/17388 | 1689/5795 | chr14 | TogoVar | |||
| AHNAK2_chr14_104932253_104983374 | 104950587 | ACAGAGAC others(1973): Show |
A | conservative_inframe_deletion | MODERATE | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0029 | 2 | 343 | 0.0058 | -1980 | c.288 others(9): Show |
p.Pro others(14): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5000/18335 | 2884/17388 | 962/5795 | chr14 | TogoVar | |||
| AHNAK2_chr14_104932253_104983374 | 104950828 | CAGGTCAG others(1973): Show |
C | disruptive_inframe_deletion | MODERATE | HG03942.hp2 | a0097 | a0097c0122 | a0097c0122t0002 | a0097c0122t0002g0180 | 1 | 340 | 0.0029 | -1980 | c.264 others(9): Show |
p.Ser others(14): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4759/18335 | 2643/17388 | 881/5795 | chr14 | TogoVar | |||
| ASMT_chrX_1610059_1648081 | 1639631 | AGATAGGG others(1972): Show |
A | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 220 | 0.0045 | -1979 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| MFGE8_chr15_88893683_88918379 | 88916401 | TTGCTTGA others(1971): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG03486.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0003t0001 | a0001c0002t0005g0057 a0001c0003t0001g0162 |
3 | 434 | 0.0069 | -1978 | c.-50 others(11): Show |
MFGE8 | ENSG00000140545.16 | transcript | ENST00000268150.13 | protein_coding | 3023 | chr15 | TogoVar | |||||||
| RIN3_chr14_92508781_92693994 | 92646634 | TTCACCAT others(1971): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0005 | a0005c0057 | a0005c0057t0001 | a0005c0057t0001g0115 | 1 | 332 | 0.0030 | -1978 | c.533 others(17): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 5/9 | chr14 | TogoVar | |||||||
| SLC15A4_chr12_128788194_128828958 | 128817903 | TGAGCTGC others(1971): Show |
T | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 416 | 0.0024 | -1978 | c.546 others(17): Show |
SLC15A4 | ENSG00000139370.12 | transcript | ENST00000266771.10 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
| C2orf73_chr2_54325884_54366581 | 54338356 | GCTCAGGA others(1970): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(213): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0005others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(14): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 others(103): Show |
216 | 412 | 0.5243 | -1977 | c.234 others(17): Show |
C2orf73 | ENSG00000177994.16 | transcript | ENST00000398634.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ARHGEF18_chr19_7343937_7477478 | 7396554 | AAAATACA others(1969): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 a0001c0001t0002g0190 |
2 | 296 | 0.0068 | -1976 | c.967 others(19): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 10/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1638264 | ATCCATCC others(1969): Show |
G | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 219 | 0.0046 | -1976 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | chrX | TogoVar | |||||||
| LUZP4_chrX_115284715_115312563 | 115307964 | AGTATTTC others(1969): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01515.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 a0001c0001t0003g0025 a0001c0001t0003g0035 others(3): Show |
11 | 278 | 0.0396 | -1976 | c.*11 others(11): Show |
LUZP4 | ENSG00000102021.11 | transcript | ENST00000371920.4 | protein_coding | 402 | chrX | TogoVar | |||||||
| PHYKPL_chr5_178203471_178237802 | 178217958 | CTGTAATC others(1969): Show |
C | intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0322 | 1 | 438 | 0.0023 | -1976 | c.927 others(17): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 8/12 | chr5 | TogoVar | |||||||
| GPR39_chr2_132411805_132651582 | 132567851 | CGAGATCT others(1968): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0208 a0001c0001t0011g0079 |
2 | 208 | 0.0096 | -1975 | c.857 others(19): Show |
GPR39 | ENSG00000183840.8 | transcript | ENST00000329321.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DGKE_chr17_56829151_56874567 | 56872593 | GGGCCTTT others(1967): Show |
G | downstream_gene_variant | MODIFIER | NA18951.hp1 NA18967.hp2 NA19010.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0021a0001c0004t0001 | a0001c0001t0021g0079 a0001c0001t0021g0080 a0001c0004t0001g0004 |
5 | 231 | 0.0216 | -1974 | c.*98 others(12): Show |
DGKE | ENSG00000153933.10 | transcript | ENST00000284061.8 | protein_coding | 3027 | chr17 | TogoVar | |||||||
| HTR3E_chr3_184092064_184111995 | 184099474 | GGAGGCCG others(1967): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00609.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0114 | 1 | 420 | 0.0024 | -1974 | c.68- others(14): Show |
HTR3E | ENSG00000186038.9 | transcript | ENST00000415389.6 | protein_coding | 2/9 | chr3 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1235668 | CCCTCCCG others(1965): Show |
C | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0103 | 1 | 81 | 0.0123 | -1972 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| ATAD5_chr17_30826966_30900869 | 30874120 | GTGCCACT others(1965): Show |
G | intron_variant | MODIFIER | HG03239.hp1 HG03704.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0211 a0003c0004t0001g0212 |
2 | 284 | 0.0070 | -1972 | c.360 others(18): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| TMEM163_chr2_134450759_134724000 | 134527352 | GAGGAAAC others(1963): Show |
G | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 220 | 0.0045 | -1970 | c.458 others(19): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 4/7 | chr2 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805535 | GCCCAGGG others(1962): Show |
G | downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 251 | 0.0040 | -1969 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1249 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805535 | GCCCAGGG others(1962): Show |
G | upstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 262 | 0.0038 | -1969 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3657 | chr2 | TogoVar |