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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLN8_chr8_1758789_1791570 | 1763530 | GCCGCGCC others(107): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG01070.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0003g0004 others(4): Show |
9 | 411 | 0.0219 | -114 | c.-47 others(9): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 258 | chr8 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 140490013 | TGTGTGTG others(107): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0041 | a0001c0001t0002g0091 a0001c0001t0041g0047 |
2 | 92 | 0.0217 | -114 | c.134 others(21): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | chr3 | TogoVar | |||||||
CNTRL_chr9_121069955_121182610 | 121092457 | ATATATAT others(107): Show |
A | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 309 | 0.0032 | -114 | c.348 others(17): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 4/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45442918 | GTGTGGGC others(107): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02895.hp1 |
a0011a0012 | a0011c0099a0012c0037 | a0011c0099t0004a0012c0037t0009 | a0011c0099t0004g0199 a0012c0037t0009g0200 |
2 | 290 | 0.0069 | -114 | c.107 others(19): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1263905 | TATCCACC others(107): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 a0001c0001t0003g0149 |
2 | 157 | 0.0127 | -114 | c.-50 others(11): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4908 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1264255 | GTGATGCC others(107): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0001t0001g0067 others(43): Show |
46 | 102 | 0.4510 | -114 | c.-47 others(11): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4558 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1264526 | CTCTTGGG others(107): Show |
C | upstream_gene_variant | MODIFIER | HG01928.hp1 HG02165.hp1 HG02273.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0008others(1): Show | a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0002g0069 others(3): Show |
6 | 157 | 0.0382 | -114 | c.-44 others(11): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4287 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1298572 | CCCTACCC others(107): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01433.hp1 HG01884.hp2 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0012others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0001t0001g0093 others(32): Show |
35 | 117 | 0.2991 | -114 | c.811 others(17): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1314433 | GCACTGCA others(107): Show |
G | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02976.hp2 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0010 a0001c0005t0005g0137 |
2 | 126 | 0.0159 | -114 | c.*49 others(11): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4499 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314573 | ACCTGCCC others(107): Show |
A | downstream_gene_variant | MODIFIER | HG03710.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 a0001c0001t0003g0119 |
2 | 117 | 0.0171 | -114 | c.*50 others(11): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4639 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314687 | GCCTGCCC others(107): Show |
G | downstream_gene_variant | MODIFIER | HG02717.hp2 NA20129.hp2 |
a0002 | a0002c0003a0002c0017 | a0002c0003t0005a0002c0017t0002 | a0002c0003t0005g0147 a0002c0017t0002g0007 |
2 | 139 | 0.0144 | -114 | c.*52 others(11): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4753 | chrX | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4486122 | CATATATA others(107): Show |
C | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0026 | 1 | 48 | 0.0208 | -114 | c.303 others(19): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSNK1G2_chr19_1936172_1986338 | 1959611 | CCCAGCAC others(107): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(61): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0017others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0026 others(57): Show |
64 | 380 | 0.1684 | -114 | c.-26 others(19): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CYTH1_chr17_78669048_78787273 | 78760384 | TACACACA others(107): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 207 | 0.0048 | -114 | c.22+ others(17): Show |
CYTH1 | ENSG00000108669.18 | transcript | ENST00000446868.8 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71553337 | CATATATC others(107): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02976.hp2 NA18959.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0003 | a0001c0001t0001g0042 a0001c0001t0007g0014 a0002c0002t0003g0089 others(1): Show |
4 | 100 | 0.0400 | -114 | c.157 others(19): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71735331 | ATACGGGA others(107): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 99 | 0.0101 | -114 | c.849 others(19): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2296522 | CAGGAATA others(107): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 47 | 0.0213 | -114 | c.287 others(17): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 417734 | GCCTGTCA others(107): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02809.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0014 a0001c0005t0001g0005 |
2 | 41 | 0.0488 | -114 | c.739 others(17): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1681846 | CGGGACTG others(107): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0001 | 1 | 40 | 0.0250 | -114 | c.270 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11694647 | TCGCTTTC others(107): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0004 | a0004c0054 | a0004c0054t0001 | a0004c0054t0001g0144 | 1 | 135 | 0.0074 | -114 | c.487 others(17): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | chr17 | TogoVar | |||||||
DNAH9_chr17_11593470_11974748 | 11694655 | TCGCTTTC others(107): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(3): Show |
a0001a0003a0004others(2): Show | a0001c0002a0003c0007a0004c0109others(3): Show | a0001c0002t0001a0003c0007t0001a0004c0109t0001others(3): Show | a0001c0002t0001g0142 a0003c0007t0001g0115 a0004c0109t0001g0034 others(3): Show |
6 | 151 | 0.0397 | -114 | c.487 others(17): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | chr17 | TogoVar | |||||||
DNAH9_chr17_11593470_11974748 | 11712004 | GTATATAT others(107): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03130.hp2 NA18906.hp1 others(1): Show |
a0016a0075a0078 | a0016c0011a0075c0145a0078c0085 | a0016c0011t0001a0075c0145t0001a0078c0085t0001 | a0016c0011t0001g0073 a0016c0011t0001g0121 a0075c0145t0001g0013 others(1): Show |
4 | 123 | 0.0325 | -114 | c.555 others(19): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127396972 | CTGTGATC others(107): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02055.hp2 HG02818.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0005t0012others(4): Show | a0001c0001t0002g0032 a0001c0001t0002g0065 a0001c0002t0001g0096 others(5): Show |
8 | 133 | 0.0602 | -114 | c.392 others(19): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 38/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400274 | CCACCACT others(107): Show |
C | intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0111 | 1 | 228 | 0.0044 | -114 | c.323 others(19): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137565244 | GGGGTGAC others(107): Show |
G | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 334 | 0.0030 | -114 | c.641 others(14): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565842 | TGTCTGTG others(107): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01175.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0086 others(7): Show |
10 | 305 | 0.0328 | -114 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565958 | TGTCTGTG others(107): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00735.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 others(3): Show |
6 | 318 | 0.0189 | -114 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137568147 | GTCTGTGA others(107): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0239 | 1 | 338 | 0.0030 | -114 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DRD3_chr3_114122580_114184052 | 114174627 | CCGTGATT others(107): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0170 a0002c0001t0001g0171 |
2 | 358 | 0.0056 | -114 | c.-35 others(17): Show |
DRD3 | ENSG00000151577.14 | transcript | ENST00000383673.5 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137819323 | GTGTACCG others(107): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 152 | 0.0066 | -114 | c.354 others(19): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3184622 | ACAGCCCC others(107): Show |
A | downstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 229 | 0.0044 | -114 | c.*45 others(11): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4347 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3285770 | GACTGTCT others(107): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 243 | 0.0041 | -114 | c.260 others(19): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 666891 | AGATGGTG others(107): Show |
A | downstream_gene_variant | MODIFIER | HG02698.hp1 HG03669.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0147 a0002c0002t0001g0096 |
2 | 371 | 0.0054 | -114 | c.*73 others(11): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3426 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 666909 | TGATGGTG others(107): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG02015.hp1 HG02040.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0011others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0023others(3): Show | a0001c0001t0001g0266 a0001c0003t0001g0003 a0001c0003t0001g0245 others(15): Show |
20 | 286 | 0.0699 | -114 | c.*72 others(11): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3408 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 666957 | AGATGGAG others(107): Show |
A | downstream_gene_variant | MODIFIER | NA18965.hp1 NA19240.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0003c0007t0002 | a0001c0001t0002g0199 a0003c0007t0002g0375 |
2 | 298 | 0.0067 | -114 | c.*72 others(11): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3360 | chr18 | TogoVar | |||||||
EPHA5_chr4_65314567_65675489 | 65531447 | TATATACT others(107): Show |
T | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0183 | 1 | 217 | 0.0046 | -114 | c.911 others(19): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914574 | CGTCTCTC others(107): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0014 a0001c0002t0002g0099 a0001c0002t0002g0121 others(4): Show |
9 | 265 | 0.0340 | -114 | c.-13 others(17): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ETV6_chr12_11644674_11900377 | 11874538 | GTGTGTAC others(107): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 260 | 0.0038 | -114 | c.100 others(19): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113111733 | ACAGGGCA others(107): Show |
A | intron_variant | MODIFIER | HG01975.hp2 HG02970.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0191 a0001c0001t0004g0021 |
3 | 398 | 0.0075 | -114 | c.225 others(15): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FADS6_chr17_74872302_74898633 | 74888169 | CGCGCAGA others(107): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0270 | 1 | 438 | 0.0023 | -114 | c.411 others(17): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
FANCA_chr16_89732549_89821647 | 89745489 | TCTGAGCT others(107): Show |
T | intron_variant | MODIFIER | HG02258.hp2 NA21309.hp1 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0321 a0007c0009t0001g0325 |
2 | 149 | 0.0134 | -114 | c.351 others(17): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 35/42 | chr16 | TogoVar | |||||||
FBLN1_chr22_45497883_45606135 | 45587276 | GACGTCCT others(107): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(249): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(248): Show |
252 | 338 | 0.7456 | -114 | c.197 others(21): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FOXI2_chr10_127732185_127746183 | 127739854 | CACCCACA others(107): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0003 | a0003c0003t0121 | a0003c0003t0121g0003 | 1 | 432 | 0.0023 | -114 | c.*89 others(10): Show |
FOXI2 | ENSG00000186766.8 | transcript | ENST00000388920.5 | protein_coding | 2/2 | 892 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FOXN3_chr14_89151177_89422233 | 89360738 | AGCACCAC others(107): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0155 | 1 | 228 | 0.0044 | -114 | c.544 others(18): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89360750 | ACCACCAC others(107): Show |
A | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 222 | 0.0045 | -114 | c.544 others(18): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361519 | ACCACCAC others(107): Show |
A | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0055 | 1 | 228 | 0.0044 | -114 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27306798 | TACAATAT others(107): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0039 | 1 | 86 | 0.0116 | -114 | c.271 others(19): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806227 | CTCCCCCC others(107): Show |
C | downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 307 | 0.0033 | -114 | c.*20 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1941 | chr2 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252881 | TCACCACC others(107): Show |
T | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0034 | 1 | 326 | 0.0031 | -114 | c.666 others(17): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113831721 | AGAGCATG others(107): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01496.hp1 HG01891.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0013 a0001c0002t0001g0009 a0001c0002t0001g0010 others(14): Show |
17 | 91 | 0.1868 | -114 | c.114 others(17): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 10/14 | chr13 | TogoVar |