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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TEX29_chr13_111315642_111349248 | 111340648 | CATCATAA others(767): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0131 | 1 | 351 | 0.0028 | -774 | c.239 others(16): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ZFPM2_chr8_105313438_105809539 | 105784303 | AGAAACTA others(767): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01243.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0002others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0037 others(23): Show |
26 | 90 | 0.2889 | -774 | c.533 others(17): Show |
ZFPM2 | ENSG00000169946.14 | transcript | ENST00000407775.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HSD17B14_chr19_48808018_48841491 | 48834455 | GGCCTGGA others(766): Show |
G | intron_variant | MODIFIER | HG01978.hp1 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0140 |
2 | 357 | 0.0056 | -773 | c.127 others(14): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
ICAM1_chr19_10266120_10291615 | 10281225 | TCCCAAAG others(766): Show |
T | intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 450 | 0.0022 | -773 | c.332 others(17): Show |
ICAM1 | ENSG00000090339.9 | transcript | ENST00000264832.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFE2L3_chr7_26147198_26192137 | 26182366 | GTAATCCC others(766): Show |
G | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 398 | 0.0025 | -773 | c.751 others(16): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3685659 | CCAGCCTG others(766): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02683.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0002c0002t0001g0130 |
3 | 221 | 0.0136 | -773 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
PLEKHA4_chr19_48832097_48873617 | 48834455 | GGCCTGGA others(766): Show |
G | downstream_gene_variant | MODIFIER | HG01978.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0164 |
2 | 268 | 0.0075 | -773 | c.*20 others(11): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2641 | chr19 | TogoVar | |||||||
C1R_chr12_7075219_7097445 | 7083650 | GNNNNNNN others(765): Show |
G | intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 13 | 0.0769 | -772 | c.127 others(19): Show |
C1R | ENSG00000159403.18 | transcript | ENST00000647956.2 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
CNN2_chr19_1021608_1044065 | 1033780 | GAGCGTGG others(765): Show |
G | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0089 | 1 | 376 | 0.0027 | -772 | c.390 others(17): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CNN2_chr19_1021608_1044065 | 1034300 | GACCGGGA others(765): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG01081.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0098 a0001c0001t0002g0088 a0001c0001t0002g0096 others(13): Show |
23 | 388 | 0.0593 | -772 | c.390 others(17): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132135520 | CGCTCCTC others(765): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01256.hp2 HG01496.hp1 others(15): Show |
a0002a0012 | a0002c0002a0012c0017 | a0002c0002t0002a0002c0002t0004a0002c0002t0009others(2): Show | a0002c0002t0002g0003 a0002c0002t0002g0021 a0002c0002t0004g0006 others(5): Show |
18 | 317 | 0.0568 | -772 | c.*29 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1073 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132135523 | TCCTCCCA others(765): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02451.hp2 others(3): Show |
a0002a0007 | a0002c0002a0007c0014 | a0002c0002t0002a0007c0014t0002 | a0002c0002t0002g0003 a0002c0002t0002g0051 a0007c0014t0002g0037 |
6 | 327 | 0.0183 | -772 | c.*29 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1070 | chr12 | TogoVar | |||||||
GAK_chr4_844277_937316 | 926858 | CTCCGCAC others(765): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0264 | 1 | 387 | 0.0026 | -772 | c.145 others(17): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
RBM6_chr3_49935150_50082249 | 49938767 | GCCTGCCA others(765): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00597.hp1 others(81): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0011t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show |
84 | 216 | 0.3889 | -772 | c.-15 others(10): Show |
RBM6 | ENSG00000004534.15 | transcript | ENST00000266022.9 | protein_coding | 1382 | chr3 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138611698 | AAAGATAA others(765): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(79): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0002a0001c0002t0002a0001c0005t0001others(20): Show | a0001c0001t0002g0352 a0001c0002t0002g0093 a0001c0002t0002g0149 others(79): Show |
82 | 358 | 0.2291 | -772 | c.135 others(19): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19173946 | CCTCGCGG others(765): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | HG00673.hp2 HG02015.hp1 NA18974.hp1 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0011 a0002c0003t0001g0029 a0002c0003t0001g0045 |
10 | 446 | 0.0224 | -772 | c.105 others(13): Show |
p.Val others(13): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 5/5 | 1346/1521 | 1057/1353 | 353/450 | chr13 | TogoVar | |||
ADARB2_chr10_1172313_1742525 | 1239428 | TCCCCTCT others(764): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0040 | a0001c0003t0040g0073 | 1 | 101 | 0.0099 | -771 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
NECTIN2_chr19_44841297_44894223 | 44862268 | CACTGTGT others(764): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 313 | 0.0032 | -771 | c.89- others(15): Show |
NECTIN2 | ENSG00000130202.10 | transcript | ENST00000252483.10 | protein_coding | 1/8 | chr19 | TogoVar | |||||||
ROR2_chr9_91717601_91955228 | 91796780 | ACCCTGGG others(764): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0009 | a0001c0009t0014 | a0001c0009t0014g0220 | 1 | 224 | 0.0045 | -771 | c.98- others(17): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
SLC16A14_chr2_230029982_230073924 | 230069820 | TTCTGCCC others(764): Show |
T | upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 418 | 0.0024 | -771 | c.-20 others(11): Show |
SLC16A14 | ENSG00000163053.11 | transcript | ENST00000295190.9 | protein_coding | 897 | chr2 | TogoVar | |||||||
VTI1B_chr14_67642085_67679632 | 67662845 | ATGAGCCG others(764): Show |
A | intron_variant | MODIFIER | HG01952.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 2 | 444 | 0.0045 | -771 | c.116 others(16): Show |
VTI1B | ENSG00000100568.11 | transcript | ENST00000554659.6 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003433 | CGGTGGGA others(763): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0130 | 1 | 394 | 0.0025 | -770 | c.*21 others(11): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1437 | chr16 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90003470 | TACCTTTA others(763): Show |
T | downstream_gene_variant | MODIFIER | HG02723.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0119 |
2 | 311 | 0.0064 | -770 | c.*20 others(11): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1400 | chr16 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132135463 | CCCGAGTG others(763): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 331 | 0.0030 | -770 | c.*30 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1130 | chr12 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82579819 | ATGAAGTA others(763): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 306 | 0.0033 | -770 | c.910 others(17): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114832282 | CCTTGGGC others(763): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0054 | 1 | 174 | 0.0057 | -770 | c.350 others(19): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953215 | CCACCCCA others(763): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0100 | 1 | 288 | 0.0035 | -770 | c.503 others(16): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 2035383 | CGGGACAG others(763): Show |
C | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0098 | 1 | 261 | 0.0038 | -770 | c.121 others(21): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 12/18 | chr7 | TogoVar | |||||||
OR2W3_chr1_247890587_247901531 | 247891513 | ATGTTGTG others(763): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(61): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0002c0001others(10): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(10): Show | a0001c0002t0001g0000 a0001c0003t0001g0000 a0002c0001t0001g0000 others(10): Show |
64 | 386 | 0.1658 | -770 | c.-40 others(11): Show |
OR2W3 | ENSG00000238243.3 | transcript | ENST00000360358.3 | protein_coding | 4073 | chr1 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6560785 | CTCCTCCT others(763): Show |
C | upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0128 | 1 | 214 | 0.0047 | -770 | c.-51 others(11): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4231 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 287501 | TCTCTCTC others(763): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG02027.hp1 HG02074.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0002g0029 others(12): Show |
15 | 132 | 0.1136 | -770 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125171205 | TGAAAGAT others(763): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(299): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0008a0001c0014others(25): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(63): Show | a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0032 others(298): Show |
302 | 360 | 0.8389 | -770 | c.622 others(17): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
C1R_chr12_7075219_7097445 | 7083650 | GNNNNNNN others(762): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(222): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0001a0001c0005t0002a0001c0006t0001others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(118): Show |
225 | 237 | 0.9494 | -769 | c.127 others(19): Show |
C1R | ENSG00000159403.18 | transcript | ENST00000647956.2 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
EGFR_chr7_55014017_55216628 | 55166662 | GTGAGGAG others(762): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00639.hp1 others(51): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(31): Show | a0001c0001t0001g0080 a0001c0001t0002g0023 a0001c0001t0002g0029 others(51): Show |
54 | 244 | 0.2213 | -769 | c.188 others(19): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137047167 | GCCCACCC others(762): Show |
G | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0008 | a0008c0019 | a0008c0019t0001 | a0008c0019t0001g0054 | 1 | 398 | 0.0025 | -769 | c.*72 others(10): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 939 | chr9 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346643 | AGCGGACC others(762): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 286 | 0.0035 | -769 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1320538 | AATCATCA others(762): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015 | a0001c0001t0009g0009 a0001c0001t0015g0164 |
3 | 386 | 0.0078 | -769 | c.457 others(17): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MREG_chr2_215937584_216018551 | 215993961 | GTGGGAGT others(762): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0056 | a0001c0001t0001g0116 a0001c0001t0001g0148 a0001c0001t0002g0036 others(2): Show |
5 | 414 | 0.0121 | -769 | c.255 others(17): Show |
MREG | ENSG00000118242.17 | transcript | ENST00000263268.11 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137047167 | GCCCACCC others(762): Show |
G | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0118 | 1 | 400 | 0.0025 | -769 | c.-19 others(11): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 991 | chr9 | TogoVar | |||||||
NPIPB4_chr16_21829582_21862756 | 21835126 | CCCCCGCA others(762): Show |
C | frameshift_variant | HIGH | HG00544.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0160 | 1 | 204 | 0.0049 | -769 | c.249 others(9): Show |
p.Glu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3475/4020 | 2492/3669 | 831/1222 | chr16 | TogoVar | |||
TBC1D20_chr20_430480_467533 | 453339 | CGGCGCAT others(762): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02622.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0164 a0001c0001t0003g0248 a0001c0001t0007g0026 others(12): Show |
16 | 400 | 0.0400 | -769 | c.71- others(15): Show |
TBC1D20 | ENSG00000125875.15 | transcript | ENST00000354200.5 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
TLCD2_chr17_1697816_1715377 | 1698855 | AGAGTCTC others(762): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00609.hp1 others(81): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0004 a0001c0001t0003g0047 a0001c0001t0003g0217 others(37): Show |
84 | 450 | 0.1867 | -769 | c.*81 others(11): Show |
TLCD2 | ENSG00000185561.10 | transcript | ENST00000330676.8 | protein_coding | 3960 | chr17 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1237016 | GCCTCCCG others(761): Show |
G | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 81 | 0.0123 | -768 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
DOC2B_chr17_137789_186650 | 167453 | CATGGTCT others(761): Show |
C | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 338 | 0.0030 | -768 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361732 | ACCACCTC others(761): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 224 | 0.0045 | -768 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132233687 | GTGGAGTC others(761): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp1 HG01192.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0013others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0125 a0001c0001t0001g0136 others(9): Show |
12 | 178 | 0.0674 | -768 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
LPGAT1_chr1_211738457_211835763 | 211791718 | GCCTGGGC others(761): Show |
G | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0227 | 1 | 330 | 0.0030 | -768 | c.357 others(16): Show |
LPGAT1 | ENSG00000123684.13 | transcript | ENST00000366997.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195779587 | GCGTGACC others(761): Show |
G | disruptive_inframe_deletion | MODERATE | HG00280.hp2 | a0029 | a0029c0036 | a0029c0036t0002 | a0029c0036t0002g0192 | 1 | 244 | 0.0041 | -768 | c.112 others(11): Show |
p.Val others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12104/16756 | 11225/16239 | 3742/5412 | chr3 | TogoVar | |||
PLCB4_chr20_9064087_9485808 | 9188475 | CTAGTGAC others(761): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02615.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0046 others(4): Show |
7 | 138 | 0.0507 | -768 | c.-78 others(19): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC24A2_chr9_19502455_19794037 | 19547519 | ACAGCTTC others(761): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02922.hp2 HG03486.hp1 others(1): Show |
a0001a0005 | a0001c0001a0001c0010a0005c0027 | a0001c0001t0026a0001c0010t0058a0005c0027t0017 | a0001c0001t0026g0078 a0001c0001t0026g0159 a0001c0010t0058g0090 others(1): Show |
4 | 186 | 0.0215 | -768 | c.147 others(19): Show |
SLC24A2 | ENSG00000155886.12 | transcript | ENST00000341998.7 | protein_coding | 8/10 | chr9 | TogoVar |