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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC8C_chr1_89628120_89724533 | 89703459 | TGAACCCA others(5075): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 a0001c0001t0002g0089 |
2 | 268 | 0.0075 | -5082 | c.139 others(17): Show |
LRRC8C | ENSG00000171488.15 | transcript | ENST00000370454.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
THSD4_chr15_71110471_71788383 | 71416273 | CAAATCTT others(5071): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00621.hp2 others(55): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(44): Show | a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0067 others(55): Show |
58 | 116 | 0.5000 | -5078 | c.115 others(19): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 7/17 | chr15 | TogoVar | |||||||
IMMP2L_chr7_110657644_111567492 | 110705267 | ACTGATAG others(5056): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 84 | 0.0119 | -5063 | c.409 others(19): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 85344899 | AGTAACAC others(5037): Show |
A | intron_variant | MODIFIER | HG03471.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0009 | a0001c0001t0002g0001 a0001c0002t0009g0002 |
2 | 14 | 0.1429 | -5044 | c.41- others(17): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 3/27 | chr11 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2277253 | GAGAAAGA others(5030): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG02004.hp1 HG04204.hp1 others(3): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0003a0004c0004t0001 | a0002c0002t0003g0002 a0002c0002t0003g0008 a0002c0002t0003g0017 others(3): Show |
6 | 50 | 0.1200 | -5037 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1393083 | CATTGAGT others(5030): Show |
C | intron_variant | MODIFIER | HG02071.hp2 HG03492.hp1 |
a0001a0002 | a0001c0012a0002c0001 | a0001c0012t0004a0002c0001t0007 | a0001c0012t0004g0036 a0002c0001t0007g0038 |
2 | 40 | 0.0500 | -5037 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LMO7_chr13_75631330_75864866 | 75788944 | CTGGGCAA others(5023): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0096 | 1 | 272 | 0.0037 | -5030 | c.318 others(17): Show |
LMO7 | ENSG00000136153.20 | transcript | ENST00000377534.8 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SIGLEC5_chr19_51605960_51635401 | 51630373 | CGGCTGTC others(5021): Show |
C | 5_prime_UTR_variant | MODIFIER | NA19072.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0088 | 1 | 414 | 0.0024 | -5028 | c.-50 others(9): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 1/9 | 39 | chr19 | TogoVar | ||||||
FOCAD_chr9_20679259_21000950 | 20799592 | CATTATGT others(5019): Show |
C | intron_variant | MODIFIER | NA18945.hp2 NA18969.hp2 NA18986.hp1 others(4): Show |
a0007a0012 | a0007c0007a0012c0019 | a0007c0007t0002a0012c0019t0002 | a0007c0007t0002g0195 a0007c0007t0002g0224 a0007c0007t0002g0225 others(4): Show |
7 | 320 | 0.0219 | -5026 | c.145 others(20): Show |
FOCAD | ENSG00000188352.13 | transcript | ENST00000338382.11 | protein_coding | 11/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZNF438_chr10_30839632_31036865 | 30957823 | CAGGGTTT others(5008): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 others(21): Show |
24 | 316 | 0.0760 | -5015 | c.-19 others(21): Show |
ZNF438 | ENSG00000183621.15 | transcript | ENST00000436087.7 | protein_coding | 2/6 | chr10 | TogoVar | |||||||
EGF_chr4_109907883_110018766 | 109919582 | AAGAGGAC others(4991): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG02622.hp2 others(4): Show |
a0012a0014a0015 | a0012c0014a0014c0017a0015c0018 | a0012c0014t0007a0014c0017t0007a0015c0018t0017 | a0012c0014t0007g0119 a0012c0014t0007g0120 a0012c0014t0007g0122 others(4): Show |
7 | 388 | 0.0180 | -4998 | c.127 others(18): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105234557 | CCCCGTGG others(4989): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 72 | 0.0139 | -4996 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
ACER3_chr11_76855918_77031797 | 76961782 | AATGATGT others(4987): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02647.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0020a0002c0002t0025a0002c0002t0098others(4): Show | a0002c0002t0020g0214 a0002c0002t0020g0215 a0002c0002t0020g0217 others(9): Show |
12 | 346 | 0.0347 | -4994 | c.267 others(17): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81643588 | GAGACCAG others(4987): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 268 | 0.0037 | -4994 | c.478 others(17): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1392886 | TCTGTTTT others(4985): Show |
T | intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0020 | a0002c0001t0020g0024 | 1 | 40 | 0.0250 | -4992 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 175361204 | TTTTATGG others(4985): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp1 HG01169.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0013a0002c0004a0004c0002others(1): Show | a0001c0013t0007a0002c0004t0036a0004c0002t0008others(2): Show | a0001c0013t0007g0021 a0002c0004t0036g0047 a0004c0002t0008g0006 others(2): Show |
5 | 64 | 0.0781 | -4992 | c.109 others(21): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1392819 | TTGGACTT others(4984): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp2 HG01496.hp2 others(10): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0010others(4): Show | a0001c0002t0006a0001c0002t0009a0001c0002t0010others(9): Show | a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0002t0010g0008 others(10): Show |
13 | 40 | 0.3250 | -4991 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1393197 | CCCTCCTC others(4983): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0040 | 1 | 40 | 0.0250 | -4990 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75498141 | ATGATTTA others(4978): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0271 | 1 | 336 | 0.0030 | -4985 | c.231 others(17): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41055245 | GGAGAGGA others(4978): Show |
G | upstream_gene_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 1 | 411 | 0.0024 | -4985 | c.-50 others(9): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 16 | chr17 | TogoVar | |||||||
OR6Y1_chr1_158539550_158559405 | 158546972 | CATGATTG others(4974): Show |
C | start_lost others(2): Show |
HIGH | HG02451.hp1 HG03041.hp2 HG03098.hp1 others(3): Show |
a0000 | a0000c0000 | a0000c0000t0016a0000c0000t0048 | a0000c0000t0016g0017 a0000c0000t0016g0097 a0000c0000t0048g0098 |
6 | 430 | 0.0140 | -4981 | c.-14 others(15): Show |
p.Met others(11): Show |
OR6Y1 | ENSG00000197532.3 | transcript | ENST00000641622.1 | protein_coding | 2/2 | 2705/5128 | 1/978 | 1/325 | chr1 | TogoVar | |||
TMEM154_chr4_152613628_152684997 | 152646452 | GAGCAGAG others(4969): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0178 | 1 | 300 | 0.0033 | -4976 | c.364 others(17): Show |
TMEM154 | ENSG00000170006.13 | transcript | ENST00000304385.8 | protein_coding | 3/6 | chr4 | TogoVar | |||||||
ANO5_chr11_22188085_22288357 | 22228256 | CAAGTGTT others(4967): Show |
C | intron_variant | MODIFIER | HG03195.hp1 HG03516.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0010 a0001c0001t0016g0207 |
3 | 364 | 0.0082 | -4974 | c.648 others(16): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106376516 | AGGCTGGA others(4965): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 272 | 0.0037 | -4972 | c.173 others(19): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SIGLEC5_chr19_51605960_51635401 | 51630430 | CCCCGACA others(4964): Show |
C | upstream_gene_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 1 | 414 | 0.0024 | -4971 | c.-50 others(9): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 30 | chr19 | TogoVar | |||||||
OR9A4_chr7_141911399_141925625 | 141920665 | TTCTTTTT others(4953): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0016 others(10): Show |
53 | 446 | 0.1188 | -4960 | c.*84 others(10): Show |
OR9A4 | ENSG00000258083.2 | transcript | ENST00000641559.1 | protein_coding | 41 | chr7 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17678570 | ATTCTGCC others(4952): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG01934.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0113 others(8): Show |
11 | 162 | 0.0679 | -4959 | c.-10 others(21): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ORM1_chr9_114318098_114331479 | 114326528 | CAACCCTG others(4944): Show |
C | downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 464 | 0.0022 | -4951 | c.*17 others(10): Show |
ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 50 | chr9 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2277395 | GGGAGAGA others(4941): Show |
G | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 50 | 0.0200 | -4948 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1393147 | TGCCACCT others(4938): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 40 | 0.0250 | -4945 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MFNG_chr22_37464063_37491384 | 37464782 | AAGCCCAA others(4938): Show |
A | splice_region_variant | LOW | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 292 | 0.0034 | -4945 | c.*23 others(10): Show |
MFNG | ENSG00000100060.18 | transcript | ENST00000356998.8 | protein_coding | 8/8 | chr22 | TogoVar | |||||||
ZNF140_chr12_133075923_133112428 | 133090534 | TATGAAGG others(4929): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 392 | 0.0026 | -4936 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF140_chr12_133075923_133112428 | 133090589 | AAGAGACT others(4929): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 392 | 0.0026 | -4936 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF140_chr12_133075923_133112428 | 133090839 | ACTATGCC others(4929): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03453.hp1 HG06807.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0194 |
3 | 392 | 0.0077 | -4936 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
ZNF140_chr12_133075923_133112428 | 133090661 | CTCAGCAT others(4928): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0051 | 1 | 392 | 0.0026 | -4935 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF140_chr12_133075923_133112428 | 133091033 | ACAGGAGA others(4928): Show |
A | intron_variant | MODIFIER | NA18949.hp2 NA19004.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0209 a0001c0001t0003g0249 a0001c0001t0003g0250 |
3 | 392 | 0.0077 | -4935 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF140_chr12_133075923_133112428 | 133091132 | CGGTCAGG others(4928): Show |
C | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 | 1 | 392 | 0.0026 | -4935 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF140_chr12_133075923_133112428 | 133091209 | TCAAGGGC others(4928): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 392 | 0.0026 | -4935 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZNF140_chr12_133075923_133112428 | 133091375 | TGTTTTTG others(4926): Show |
T | intron_variant | MODIFIER | HG01243.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0261 a0001c0001t0009g0082 |
2 | 392 | 0.0051 | -4933 | c.232 others(17): Show |
ZNF140 | ENSG00000196387.10 | transcript | ENST00000355557.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GOLGA8G_chr15_28514611_28537971 | 28521486 | AGCTTTCC others(4921): Show |
A | exon_loss_variant | HIGH | HG02055.hp1 HG02145.hp1 HG02809.hp2 others(2): Show |
a0000 | a0000c0004a0000c0023 | a0000c0004t0005a0000c0004t0019a0000c0023t0005 | a0000c0004t0005g0004 a0000c0004t0019g0028 a0000c0023t0005g0027 |
5 | 100 | 0.0500 | -4928 | c.101 others(10): Show |
GOLGA8G | ENSG00000183629.14 | transcript | ENST00000525590.3 | protein_coding | 18/19 | 3095/4971 | chr15 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38423792 | AGGCAGAT others(4920): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0114a0001c0001t0136 | a0001c0001t0114g0013 a0001c0001t0136g0142 |
2 | 224 | 0.0089 | -4927 | c.115 others(21): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
ZNF564_chr19_12520373_12556482 | 12550018 | CGCGGTGG others(4920): Show |
C | exon_loss_variant others(1): Show |
HIGH | NA18999.hp1 | a0007 | a0007c0008 | a0007c0008t0016 | a0007c0008t0016g0032 | 1 | 412 | 0.0024 | -4927 | c.-36 others(12): Show |
ZNF564 | ENSG00000249709.8 | transcript | ENST00000339282.12 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
HBG1_chr11_5243269_5254857 | 5249253 | CCCCAACC others(4917): Show |
C | exon_loss_variant | HIGH | HG02004.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0045 | 1 | 433 | 0.0023 | -4924 | c.-43 others(13): Show |
HBG1 | ENSG00000213934.9 | transcript | ENST00000330597.5 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
HBG1_chr11_5243269_5254857 | 5249456 | GTGGCATC others(4917): Show |
G | exon_loss_variant | HIGH | NA18941.hp1 | a0005 | a0005c0005 | a0005c0005t0009 | a0005c0005t0009g0023 | 1 | 433 | 0.0023 | -4924 | c.-45 others(9): Show |
HBG1 | ENSG00000213934.9 | transcript | ENST00000330597.5 | protein_coding | 1/3 | 279/587 | chr11 | TogoVar | ||||||
HBG2_chr11_5248188_5259781 | 5249253 | CCCCAACC others(4917): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02004.hp2 | a0000 | a0000c0002 | a0000c0002t0003 | a0000c0002t0003g0040 | 1 | 430 | 0.0023 | -4924 | c.315 others(13): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 3/3 | chr11 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 214124215 | CATGATTG others(4915): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0029 | 1 | 86 | 0.0116 | -4922 | c.159 others(21): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 14/15 | chr2 | TogoVar | |||||||
HBG1_chr11_5243269_5254857 | 5249028 | CGACCATA others(4913): Show |
C | exon_loss_variant | HIGH | HG01123.hp1 HG02132.hp1 |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0022 | 2 | 433 | 0.0046 | -4920 | c.-41 others(13): Show |
HBG1 | ENSG00000213934.9 | transcript | ENST00000330597.5 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
HBG2_chr11_5248188_5259781 | 5249028 | CGACCATA others(4913): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG01123.hp1 HG02132.hp2 |
a0000 | a0000c0002 | a0000c0002t0003 | a0000c0002t0003g0019 | 2 | 430 | 0.0047 | -4920 | c.315 others(13): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 3/3 | chr11 | TogoVar | |||||||
GRHL2_chr8_101487439_101674726 | 101609647 | TAAAGGGA others(4908): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0028 | a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0113 others(3): Show |
6 | 306 | 0.0196 | -4915 | c.109 others(19): Show |
GRHL2 | ENSG00000083307.12 | transcript | ENST00000646743.1 | protein_coding | 8/15 | chr8 | TogoVar | |||||||
SIGLEC5_chr19_51605960_51635401 | 51630487 | TGGGCATC others(4907): Show |
T | upstream_gene_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157 | 1 | 414 | 0.0024 | -4914 | c.-50 others(10): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 87 | chr19 | TogoVar |