regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDCP1_chr3_45077277_45151378 | 45108769 | ATGCATGT others(155): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(143): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0049a0001c0001t0001g0052a0001c0001t0001g0059others(142): Show | 146 | 384 | 0.3802 | -162 | c.102 others(19): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 4/8 | chr3 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96827127 | ATTATATG others(155): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 268 | 0.0037 | -162 | c.909 others(19): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96827154 | ATTATATG others(155): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01928.hp2 HG02109.hp1 others(6): Show |
a0002a0003a0006others(3): Show | a0002c0003a0003c0073a0006c0010others(3): Show | a0002c0003t0001a0002c0003t0002a0003c0073t0001others(4): Show | a0002c0003t0001g0168a0002c0003t0002g0172a0002c0003t0002g0173others(6): Show | 9 | 268 | 0.0336 | -162 | c.909 others(19): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96827174 | ATGTGCAG others(155): Show |
A | intron_variant | MODIFIER | NA18612.hp1 NA18942.hp2 NA18947.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0165a0001c0001t0001g0166 | 3 | 268 | 0.0112 | -162 | c.909 others(19): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96827228 | ATGTGCAG others(155): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01192.hp2 HG01516.hp1 others(6): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0012a0002c0003others(4): Show | a0001c0001t0001a0001c0012t0001a0002c0003t0001others(4): Show | a0001c0001t0001g0026a0001c0012t0001g0034a0002c0003t0001g0171others(6): Show | 9 | 268 | 0.0336 | -162 | c.909 others(19): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNDP2_chr18_74491363_74528454 | 74504140 | GCTGGGAC others(155): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0020 | a0001c0020t0031 | a0001c0020t0031g0189 | 1 | 424 | 0.0024 | -162 | c.205 others(17): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246620257 | ACTCTACA others(155): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00738.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0061a0001c0001t0001g0076a0001c0001t0001g0086others(55): Show | 59 | 320 | 0.1844 | -162 | c.380 others(17): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110355434 | TAGCTCAC others(155): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0077 | a0001c0077t0005 | a0001c0077t0005g0236 | 1 | 372 | 0.0027 | -162 | c.100 others(17): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134710660 | CCCCCGTC others(155): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02717.hp1 others(4): Show |
a0001a0014 | a0001c0005a0001c0007a0001c0024others(2): Show | a0001c0005t0001a0001c0005t0009a0001c0005t0053others(4): Show | a0001c0005t0001g0107a0001c0005t0009g0256a0001c0005t0053g0105others(4): Show | 7 | 272 | 0.0257 | -162 | c.654 others(17): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL6A2_chr21_46093112_46134801 | 46134491 | CAGGGTGA others(155): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01516.hp1 HG01517.hp2 others(3): Show |
a0001a0003 | a0001c0002a0003c0007a0003c0033 | a0001c0002t0007a0003c0007t0007a0003c0033t0007 | a0001c0002t0007g0201a0003c0007t0007g0013a0003c0007t0007g0043others(2): Show | 6 | 372 | 0.0161 | -162 | c.*50 others(11): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4691 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46134491 | CAGGGTGA others(155): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01516.hp1 HG01517.hp2 others(3): Show |
a0001a0003a0008 | a0001c0044a0003c0008a0003c0054others(1): Show | a0001c0044t0003a0003c0008t0003a0003c0054t0003others(1): Show | a0001c0044t0003g0197a0003c0008t0003g0045a0003c0008t0003g0199others(2): Show | 6 | 364 | 0.0165 | -162 | c.*19 others(11): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1644 | chr21 | TogoVar | ||||||
CSNK1G2_chr19_1936172_1986338 | 1967915 | CCTCCTCC others(155): Show |
C | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 382 | 0.0026 | -162 | c.-26 others(19): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48730355 | TGTGTGAG others(155): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0048 | 1 | 144 | 0.0069 | -162 | c.584 others(19): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTNND2_chr5_10966836_11909446 | 11817053 | AGAGAGAG others(155): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 26 | 0.0385 | -162 | c.38- others(17): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
CYBC1_chr17_82437586_82455752 | 82448246 | AAGTGGAC others(155): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(148): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0021others(37): Show | 151 | 416 | 0.3630 | -162 | c.85+ others(13): Show |
CYBC1 | ENSG00000178927.19 | transcript | ENST00000306645.10 | protein_coding | 2/6 | chr17 | TogoVar | ||||||
CYTH1_chr17_78669048_78787273 | 78760383 | ATACACAC others(155): Show |
A | intron_variant | MODIFIER | HG02135.hp1 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022a0001c0001t0005g0033 | 2 | 378 | 0.0053 | -162 | c.22+ others(17): Show |
CYTH1 | ENSG00000108669.18 | transcript | ENST00000446868.8 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
DAGLB_chr7_6404129_6452954 | 6421307 | TCAGGCAG others(155): Show |
T | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0259 | 1 | 380 | 0.0026 | -162 | c.121 others(17): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 9/14 | chr7 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90008432 | CCAGGATG others(155): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0116 | 2 | 412 | 0.0049 | -162 | c.319 others(15): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 496111 | TAAAATCT others(155): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03130.hp1 |
a0001 | a0001c0016a0001c0018 | a0001c0016t0009a0001c0018t0003 | a0001c0016t0009g0073a0001c0018t0003g0011 | 2 | 88 | 0.0227 | -162 | c.86- others(15): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 608294 | ACAGCCCC others(155): Show |
A | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0021 | 1 | 88 | 0.0114 | -162 | c.85+ others(17): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 929349 | TCCCACAC others(155): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0014 | 1 | 40 | 0.0250 | -162 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 991011 | AGACCCCC others(155): Show |
A | intron_variant | MODIFIER | NA20300.hp1 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0013 | a0001c0002t0006g0011a0001c0003t0013g0007 | 2 | 40 | 0.0500 | -162 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 991655 | GCCCGGAC others(155): Show |
G | intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0040 | 1 | 40 | 0.0250 | -162 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 992145 | AGACCCCC others(155): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0010 | 1 | 40 | 0.0250 | -162 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 992838 | TCCTTGCC others(155): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0018 | 1 | 40 | 0.0250 | -162 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 993167 | GCCCGGAC others(155): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 40 | 0.0250 | -162 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1375507 | ACCTCTCC others(155): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -162 | c.106 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1662854 | GTACACGT others(155): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0003 | 1 | 40 | 0.0250 | -162 | c.181 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DSPP_chr4_87603529_87621873 | 87616001 | TAGCAGTG others(155): Show |
T | disruptive_inframe_deletion | MODERATE | HG02622.hp2 HG03516.hp2 |
a0030 | a0030c0028 | a0030c0028t0001 | a0030c0028t0001g0040 | 2 | 450 | 0.0044 | -162 | c.334 others(9): Show |
p.Asp others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3465/4331 | 3345/3906 | 1115/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
EFNA5_chr5_107371894_107675937 | 107405820 | AATATTTG others(155): Show |
A | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0123 | 1 | 190 | 0.0053 | -162 | c.419 others(19): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
EHHADH_chr3_185185624_185259049 | 185230901 | GTATGATT others(155): Show |
G | intron_variant | MODIFIER | NA18986.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0055 | 1 | 348 | 0.0029 | -162 | c.352 others(17): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
EIF3A_chr10_119028670_119085817 | 119082351 | CCCAGCTA others(155): Show |
C | upstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 350 | 0.0029 | -162 | c.-18 others(11): Show |
EIF3A | ENSG00000107581.14 | transcript | ENST00000369144.8 | protein_coding | 1535 | chr10 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796209 | ATTATATA others(155): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00609.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0012a0001c0001t0014a0001c0001t0023others(6): Show | a0001c0001t0012g0324a0001c0001t0012g0325a0001c0001t0012g0326others(34): Show | 37 | 332 | 0.1115 | -162 | c.-38 others(11): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3257 | chr14 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72401505 | ATATATAT others(155): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01261.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005 | a0001c0002t0003g0011a0001c0002t0005g0025 | 2 | 104 | 0.0192 | -162 | c.198 others(21): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9021299 | AATATATT others(155): Show |
A | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 2 | 258 | 0.0078 | -162 | c.*39 others(11): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2932 | chrX | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9022561 | TATATTAT others(155): Show |
T | downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 258 | 0.0039 | -162 | c.*26 others(11): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1670 | chrX | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241457423 | GCCCAGTG others(155): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00621.hp2 others(8): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0240a0001c0006t0001g0241a0001c0006t0001g0242others(8): Show | 11 | 378 | 0.0291 | -162 | c.158 others(17): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FBRSL1_chr12_132485151_132590188 | 132562984 | ACCTGGCC others(155): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0269 | 1 | 348 | 0.0029 | -162 | c.646 others(17): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FBRSL1_chr12_132485151_132590188 | 132563716 | CCCCGTCG others(155): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02970.hp1 others(1): Show |
a0000a0001a0015 | a0000c0071a0001c0003a0015c0037 | a0000c0071t0018a0001c0003t0026a0015c0037t0018 | a0000c0071t0018g0069a0001c0003t0026g0062a0015c0037t0018g0070others(1): Show | 4 | 348 | 0.0115 | -162 | c.646 others(17): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FBRSL1_chr12_132485151_132590188 | 132563741 | TCCTGTGC others(155): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG01069.hp2 others(42): Show |
a0000a0001a0002others(6): Show | a0000c0019a0000c0020a0000c0043others(14): Show | a0000c0019t0006a0000c0020t0010a0000c0043t0011others(23): Show | a0000c0019t0006g0127a0000c0020t0010g0126a0000c0043t0011g0177others(42): Show | 45 | 348 | 0.1293 | -162 | c.646 others(17): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FBRSL1_chr12_132485151_132590188 | 132563784 | ACTGTACA others(155): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0000 | a0000c0063 | a0000c0063t0051 | a0000c0063t0051g0086 | 1 | 348 | 0.0029 | -162 | c.646 others(17): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FLT4_chr5_180596506_180654600 | 180635488 | GGTGGGAT others(155): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00733.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0032a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0091others(30): Show | 33 | 388 | 0.0851 | -162 | c.59- others(15): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89360970 | CCTCCACC others(155): Show |
C | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0210 | 1 | 230 | 0.0044 | -162 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361943 | CCACTACC others(155): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0038 | 1 | 230 | 0.0044 | -162 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46134491 | CAGGGTGA others(155): Show |
C | downstream_gene_variant | MODIFIER | HG01517.hp2 NA20752.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0009 | a0001c0001t0009g0094a0001c0002t0009g0155 | 2 | 230 | 0.0087 | -162 | c.*23 others(11): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 2287 | chr21 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59610973 | CCCTCCCC others(155): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02572.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0035a0001c0001t0036others(2): Show | a0001c0001t0014g0002a0001c0001t0035g0028a0001c0001t0036g0028others(2): Show | 5 | 428 | 0.0117 | -162 | c.-12 others(11): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 809 | chr15 | TogoVar | ||||||
GET1_chr21_39375326_39402889 | 39383574 | ACCCAGCT others(155): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG02257.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0041 | 4 | 338 | 0.0118 | -162 | c.102 others(17): Show |
GET1 | ENSG00000182093.16 | transcript | ENST00000649170.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
GP6_chr19_55008705_55043264 | 55026964 | TGGCCCCG others(155): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0305 | 1 | 441 | 0.0023 | -162 | c.610 others(15): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 4/7 | chr19 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55027193 | GCAGCCCA others(155): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG03540.hp2 |
a0003 | a0003c0016 | a0003c0016t0003 | a0003c0016t0003g0313a0003c0016t0003g0386 | 2 | 441 | 0.0045 | -162 | c.610 others(15): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 4/7 | chr19 | TogoVar | ||||||
GRIA1_chr5_153485670_153818869 | 153801163 | TCACCATG others(155): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01167.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(2): Show | a0001c0001t0001g0031a0001c0001t0001g0045a0001c0001t0001g0063others(13): Show | 16 | 194 | 0.0825 | -162 | c.238 others(18): Show |
GRIA1 | ENSG00000155511.19 | transcript | ENST00000285900.10 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |