| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADGRE5_chr19_14376444_14413723 | 14400747 | GCGCCACT others(1636): Show |
G | exon_loss_variant | HIGH | HG01074.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0233 | 1 | 372 | 0.0027 | -1643 | c.898 others(16): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| RMDN2_chr2_37920287_38022744 | 37958335 | TAGTTCTT others(1635): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG02723.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015 | a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0107 others(7): Show |
10 | 326 | 0.0307 | -1642 | c.453 others(19): Show |
RMDN2 | ENSG00000115841.21 | transcript | ENST00000354545.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1636890 | TCATGAGG others(1634): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0127 |
2 | 209 | 0.0096 | -1641 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| TBK1_chr12_64447120_64507114 | 64502997 | TGTGGGGC others(1633): Show |
T | downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 390 | 0.0026 | -1640 | c.*16 others(11): Show |
TBK1 | ENSG00000183735.11 | transcript | ENST00000331710.10 | protein_coding | 884 | chr12 | TogoVar | |||||||
| DLGAP1_chr18_3491032_4460307 | 3560434 | AAAAAAAT others(1631): Show |
A | intron_variant | MODIFIER | HG02965.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0008 | a0001c0001t0002g0047 a0001c0002t0008g0037 |
2 | 80 | 0.0250 | -1638 | c.205 others(19): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 9/12 | chr18 | TogoVar | |||||||
| SGSM2_chr17_2332501_2386054 | 2355249 | CCCCATAT others(1631): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG01433.hp2 others(33): Show |
a0001a0002a0003others(4): Show | a0001c0003a0002c0002a0002c0004others(8): Show | a0001c0003t0001a0001c0003t0002a0002c0002t0001others(11): Show | a0001c0003t0001g0387 a0001c0003t0002g0021 a0002c0002t0001g0127 others(30): Show |
36 | 419 | 0.0859 | -1638 | c.134 others(17): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| TUBGCP5_chr15_22994177_23044569 | 23042732 | TGGGGGGT others(1629): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0272 | 1 | 335 | 0.0030 | -1636 | c.-48 others(11): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3164 | chr15 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1235637 | CCCCTCTG others(1628): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0035 | 1 | 100 | 0.0100 | -1635 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| ATP9B_chr18_79064394_79383283 | 79356934 | CGTGTGAG others(1627): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02257.hp2 others(12): Show |
a0001a0003a0010others(1): Show | a0001c0010a0001c0017a0003c0007others(4): Show | a0001c0010t0004a0001c0017t0004a0003c0007t0004others(4): Show | a0001c0010t0004g0276 a0001c0010t0004g0295 a0001c0010t0004g0296 others(12): Show |
15 | 294 | 0.0510 | -1634 | c.290 others(18): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| SMURF2_chr17_64537282_64667307 | 64575017 | TAGATAAA others(1627): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0002 | 1 | 172 | 0.0058 | -1634 | c.857 others(17): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 9/18 | chr17 | TogoVar | |||||||
| BAZ2B_chr2_159313979_159621548 | 159569468 | CCCCAGCA others(1626): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 214 | 0.0047 | -1633 | c.-45 others(19): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
| DOC2B_chr17_137789_186650 | 166707 | CGTAGTGA others(1625): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02647.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0027 | a0001c0001t0008g0047 a0001c0001t0008g0049 a0001c0001t0008g0050 others(2): Show |
5 | 204 | 0.0245 | -1632 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
| SMYD3_chr1_245744347_246512279 | 245974481 | GGCCCAGG others(1625): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0127 | 1 | 117 | 0.0085 | -1632 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
| BRF1_chr14_105204286_105306001 | 105235292 | AACAACCT others(1624): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 70 | 0.0143 | -1631 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
| ARHGEF10_chr8_1818926_1963641 | 1888206 | AGTGGGGC others(1623): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0100 | a0001c0100t0062 | a0001c0100t0062g0265 | 1 | 362 | 0.0028 | -1630 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3510104 | AGCCTGAA others(1623): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG03098.hp1 others(1): Show |
a0001a0004a0039 | a0001c0002a0004c0034a0004c0058others(1): Show | a0001c0002t0026a0004c0034t0029a0004c0058t0056others(1): Show | a0001c0002t0026g0005 a0004c0034t0029g0038 a0004c0058t0056g0117 others(1): Show |
4 | 126 | 0.0317 | -1630 | c.134 others(21): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
| PCDHB8_chr5_141172790_141185539 | 141183909 | TTTCACCC others(1623): Show |
T | downstream_gene_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 412 | 0.0024 | -1630 | c.*34 others(11): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 3371 | chr5 | TogoVar | |||||||
| SLC9A9_chr3_143260222_143853468 | 143500744 | AATGTTAT others(1623): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02615.hp1 HG02723.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0082 a0001c0001t0002g0078 a0001c0001t0002g0087 others(6): Show |
9 | 106 | 0.0849 | -1630 | c.109 others(19): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 9/15 | chr3 | TogoVar | |||||||
| ARHGEF10_chr8_1818926_1963641 | 1888216 | GGGTTGCG others(1622): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0023 | a0001c0023t0007 | a0001c0023t0007g0163 | 1 | 358 | 0.0028 | -1629 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132233536 | AGACAGTG others(1622): Show |
A | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0008 | 1 | 179 | 0.0056 | -1629 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1237832 | CCCTCCCG others(1621): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0027 | 1 | 65 | 0.0154 | -1628 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1237997 | CCCTGCCT others(1621): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 104 | 0.0096 | -1628 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| SH3GLB2_chr9_129002036_129033331 | 129018376 | GACCAGCC others(1621): Show |
G | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 434 | 0.0023 | -1628 | c.334 others(17): Show |
SH3GLB2 | ENSG00000148341.18 | transcript | ENST00000372564.8 | protein_coding | 3/10 | chr9 | TogoVar | |||||||
| CDH4_chr20_61247261_61945617 | 61943413 | CGTCTGCA others(1620): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0028a0001c0003t0039a0001c0003t0040others(1): Show | a0001c0001t0028g0092 a0001c0003t0039g0063 a0001c0003t0040g0073 others(1): Show |
4 | 101 | 0.0396 | -1627 | c.*64 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2797 | chr20 | TogoVar | |||||||
| IL3RA_chrX_1331785_1387689 | 1369838 | TGAGGACA others(1620): Show |
T | intron_variant | MODIFIER | HG03490.hp2 | a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0042 | 1 | 112 | 0.0089 | -1627 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| RAPGEF4_chr2_172730845_173057893 | 172838084 | CAGAAGGC others(1618): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0008t0002 | a0001c0001t0001g0110 a0001c0001t0002g0037 a0001c0008t0002g0028 |
3 | 176 | 0.0170 | -1625 | c.444 others(19): Show |
RAPGEF4 | ENSG00000091428.18 | transcript | ENST00000397081.8 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1127871 | GAGTGCAG others(1617): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00621.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 others(23): Show |
26 | 324 | 0.0802 | -1624 | c.-1- others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
| ZNF516_chr18_76352682_76500242 | 76392982 | CAGGTGGT others(1617): Show |
C | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0264 | 1 | 335 | 0.0030 | -1624 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| NOC4L_chr12_132139457_132157468 | 132149094 | TACCACAC others(1616): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 176 | 0.0057 | -1623 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1127635 | AGGCTGGA others(1615): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0287 | 1 | 215 | 0.0047 | -1622 | c.-1- others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
| ERC1_chr12_986223_1500931 | 1089158 | GTTGTTGT others(1615): Show |
G | intron_variant | MODIFIER | HG01517.hp1 HG02280.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0072 | a0001c0001t0001g0086 a0001c0001t0003g0013 a0001c0001t0072g0017 |
3 | 135 | 0.0222 | -1622 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| SERPINF2_chr17_1737871_1760265 | 1740014 | GACAGTGA others(1615): Show |
G | upstream_gene_variant | MODIFIER | HG02615.hp2 HG03453.hp2 HG03579.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0012 a0003c0003t0001g0035 a0003c0003t0001g0076 |
3 | 444 | 0.0068 | -1622 | c.-28 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2856 | chr17 | TogoVar | |||||||
| WDR81_chr17_1719704_1743585 | 1740014 | GACAGTGA others(1615): Show |
G | downstream_gene_variant | MODIFIER | HG02630.hp2 HG02647.hp1 HG02818.hp2 others(4): Show |
a0001a0004 | a0001c0007a0001c0026a0004c0043 | a0001c0007t0001a0001c0026t0001a0004c0043t0001 | a0001c0007t0001g0005 a0001c0007t0001g0054 a0001c0007t0001g0055 others(2): Show |
7 | 430 | 0.0163 | -1622 | c.*23 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1430 | chr17 | TogoVar | |||||||
| TMEM132D_chr12_129066726_129909025 | 129087951 | CTCCCTGA others(1614): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0074 | 1 | 92 | 0.0109 | -1621 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | |||||||
| ABR_chr17_998519_1184981 | 1117318 | TCCTCCCC others(1613): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0004 | a0001c0004t0037 | a0001c0004t0037g0016 | 1 | 329 | 0.0030 | -1620 | c.246 others(17): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
| ANKRD30B_chr18_14743172_14859667 | 14856732 | TGGGAAGA others(1613): Show |
T | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0235 | 1 | 302 | 0.0033 | -1620 | c.*25 others(11): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 2066 | chr18 | TogoVar | |||||||
| SERPINF2_chr17_1737871_1760265 | 1740214 | GCCTGATG others(1612): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01099.hp1 HG01123.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0005g0087 others(5): Show |
17 | 444 | 0.0383 | -1619 | c.-26 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2656 | chr17 | TogoVar | |||||||
| WDR81_chr17_1719704_1743585 | 1740214 | GCCTGATG others(1612): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01099.hp2 HG01123.hp1 others(12): Show |
a0001 | a0001c0002a0001c0035 | a0001c0002t0001a0001c0035t0001 | a0001c0002t0001g0001 a0001c0035t0001g0001 |
15 | 430 | 0.0349 | -1619 | c.*25 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1630 | chr17 | TogoVar | |||||||
| DIP2C_chr10_269201_694668 | 401975 | AAATCCTG others(1610): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00609.hp2 others(47): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(12): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(18): Show | a0001c0002t0001g0030 a0001c0002t0001g0052 a0001c0002t0001g0053 others(47): Show |
50 | 88 | 0.5682 | -1617 | c.115 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 9/36 | chr10 | TogoVar | |||||||
| FYB2_chr1_56713789_56824404 | 56743073 | ATTTTAAA others(1610): Show |
A | exon_loss_variant | HIGH | HG00597.hp2 NA19063.hp1 |
a0006 | a0006c0017a0006c0022 | a0006c0017t0001a0006c0022t0002 | a0006c0017t0001g0264 a0006c0022t0002g0227 |
2 | 378 | 0.0053 | -1617 | c.138 others(17): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 11/20 | chr1 | TogoVar | |||||||
| SLC35E1_chr19_16544837_16577415 | 16547732 | TAAAAATA others(1610): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02818.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 a0001c0001t0002g0034 |
4 | 348 | 0.0115 | -1617 | c.*43 others(11): Show |
SLC35E1 | ENSG00000127526.15 | transcript | ENST00000595753.6 | protein_coding | 2104 | chr19 | TogoVar | |||||||
| GPATCH2_chr1_217421992_217636090 | 217522695 | AGATTGGC others(1609): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02896.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009 | a0001c0001t0003g0077 a0001c0001t0007g0075 a0001c0001t0009g0098 |
3 | 186 | 0.0161 | -1616 | c.109 others(19): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
| CNTNAP5_chr2_124020287_124926219 | 124086268 | CTCATTGC others(1607): Show |
C | intron_variant | MODIFIER | HG02922.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0023 |
2 | 62 | 0.0323 | -1614 | c.82+ others(17): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DZIP3_chr3_108584722_108699840 | 108681732 | ATGGAATA others(1606): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02559.hp1 HG02717.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0003a0004c0006t0002 | a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 others(4): Show |
8 | 316 | 0.0253 | -1613 | c.288 others(18): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 26/32 | chr3 | TogoVar | |||||||
| ERC1_chr12_986223_1500931 | 1089232 | GAAAGTGC others(1606): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0132 | 1 | 160 | 0.0063 | -1613 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | chr12 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1235644 | GCCTCCCG others(1605): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0062 | 1 | 93 | 0.0108 | -1612 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| CCDC127_chr5_191868_223153 | 211766 | TGAGACAG others(1605): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02647.hp2 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0178a0002c0004t0179a0002c0004t0180others(4): Show | a0002c0004t0178g0215 a0002c0004t0179g0216 a0002c0004t0180g0217 others(4): Show |
7 | 396 | 0.0177 | -1612 | c.121 others(17): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
| RNGTT_chr6_88604897_88968618 | 88705321 | CAGTGGTA others(1605): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 218 | 0.0046 | -1612 | c.144 others(21): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 13/15 | chr6 | TogoVar | |||||||
| SMOC2_chr6_168436184_168672992 | 168560598 | GCCCTGAG others(1605): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG03209.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0002a0001c0002t0014 | a0001c0001t0006g0128 a0001c0002t0002g0004 a0001c0002t0014g0005 |
3 | 160 | 0.0188 | -1612 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| ANKRD33B_chr5_10559070_10662816 | 10573197 | GGTGGCTC others(1604): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0019 | a0003c0019t0028 | a0003c0019t0028g0011 | 1 | 322 | 0.0031 | -1611 | c.366 others(18): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |