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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSMD1_chr8_2930361_4999914 | 3350011 | AATAACTT others(166): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01255.hp1 HG02258.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0025others(15): Show | a0001c0001t0002a0001c0004t0020a0001c0004t0063others(16): Show | a0001c0001t0002g0102a0001c0004t0020g0086a0001c0004t0063g0095others(16): Show | 19 | 126 | 0.1508 | -173 | c.330 others(19): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 21/69 | chr8 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132135180 | CCCGAGTA others(166): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0004 | 1 | 334 | 0.0030 | -173 | c.*39 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1413 | chr12 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14211403 | TATTTACT others(166): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0021 | 1 | 148 | 0.0068 | -173 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 367916 | GGGGGCCC others(166): Show |
G | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0087 | 1 | 88 | 0.0114 | -173 | c.213 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 18/36 | chr10 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713628 | CCTCCTCC others(166): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 412 | 0.0024 | -173 | c.*34 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 938 | chr19 | TogoVar | ||||||
DPP3_chr11_66475434_66514657 | 66496388 | CGCACCAC others(166): Show |
C | intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0141 | 1 | 348 | 0.0029 | -173 | c.169 others(17): Show |
DPP3 | ENSG00000254986.8 | transcript | ENST00000531863.6 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EIF4G3_chr1_20801479_21181897 | 20815654 | GGGGGTCA others(166): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0037 | 1 | 312 | 0.0032 | -173 | c.451 others(19): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 34/36 | chr1 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796237 | TTATATAT others(166): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01433.hp2 others(20): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0003c0005others(1): Show | a0001c0001t0005a0001c0001t0025a0001c0003t0020others(2): Show | a0001c0001t0005g0171a0001c0001t0005g0172a0001c0001t0005g0175others(20): Show | 23 | 332 | 0.0693 | -173 | c.-39 others(11): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3285 | chr14 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329726 | ACTACACG others(166): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 82 | 0.0122 | -173 | c.199 others(19): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
FAM209B_chr20_56528246_56541520 | 56534964 | GCTTGAAC others(166): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03540.hp1 |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0026 | 2 | 416 | 0.0048 | -173 | c.250 others(17): Show |
FAM209B | ENSG00000213714.1 | transcript | ENST00000371325.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
FGD6_chr12_95071749_95222467 | 95148939 | TATATATA others(166): Show |
T | intron_variant | MODIFIER | HG02683.hp2 HG02897.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0061 | a0001c0001t0005g0268a0001c0001t0005g0297a0001c0001t0005g0304others(2): Show | 5 | 384 | 0.0130 | -173 | c.268 others(19): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 5/20 | chr12 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477060 | TCCTTCCT others(166): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0158 | 1 | 382 | 0.0026 | -173 | c.-13 others(11): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1066 | chr20 | TogoVar | ||||||
IDUA_chr4_982044_1009564 | 999842 | GGACGCCT others(166): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(34): Show |
a0003a0011a0012others(1): Show | a0003c0004a0003c0006a0003c0024others(3): Show | a0003c0004t0001a0003c0006t0001a0003c0024t0001others(3): Show | a0003c0004t0001g0025a0003c0004t0001g0038a0003c0004t0001g0085others(31): Show | 37 | 426 | 0.0869 | -173 | c.300 others(15): Show |
IDUA | ENSG00000127415.13 | transcript | ENST00000514224.2 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
IRF4_chr6_386752_416443 | 396882 | TCTCCTGC others(166): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 460 | 0.0022 | -173 | c.493 others(14): Show |
IRF4 | ENSG00000137265.16 | transcript | ENST00000380956.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ITIH5_chr10_7554270_7671966 | 7667053 | GGTCCCAG others(166): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(245): Show |
a0000a0001a0002others(27): Show | a0000c0011a0000c0013a0000c0014others(69): Show | a0000c0011t0007a0000c0011t0031a0000c0013t0004others(110): Show | a0000c0011t0007g0084a0000c0011t0007g0137a0000c0011t0031g0260others(244): Show | 248 | 342 | 0.7252 | -173 | c.-33 others(9): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 88 | chr10 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87686541 | GTCAGAGA others(166): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0319 | 1 | 380 | 0.0026 | -173 | c.128 others(19): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997184 | GGGGGCGG others(166): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02615.hp2 NA19030.hp2 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0121a0004c0005t0004g0122a0004c0005t0004g0123others(1): Show | 4 | 375 | 0.0107 | -173 | c.-22 others(11): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 486 | chr6 | TogoVar | ||||||
LBP_chr20_38341482_38382013 | 38379025 | GCCCGGCC others(166): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02630.hp1 HG03139.hp2 |
a0001a0004 | a0001c0001a0004c0018 | a0001c0001t0001a0004c0018t0001 | a0001c0001t0001g0267a0004c0018t0001g0335a0004c0018t0001g0343 | 3 | 394 | 0.0076 | -173 | c.*23 others(11): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 2013 | chr20 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507512 | GAGTATTT others(166): Show |
G | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 260 | 0.0039 | -173 | c.624 others(17): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LIG4_chr13_108202442_108220536 | 108207112 | CTTGCAGT others(166): Show |
C | downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 374 | 0.0027 | -173 | c.*12 others(11): Show |
LIG4 | ENSG00000174405.15 | transcript | ENST00000442234.6 | protein_coding | 329 | chr13 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19452213 | GAGAAGAG others(166): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0003 | a0002c0003t0014 | a0002c0003t0014g0022 | 1 | 163 | 0.0061 | -173 | c.995 others(17): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | ||||||
MUC20_chr3_195715978_195738551 | 195725523 | CAGAGAGC others(166): Show |
C | frameshift_variant | HIGH | HG02922.hp1 | a0036 | a0036c0054 | a0036c0054t0006 | a0036c0054t0006g0086 | 1 | 185 | 0.0054 | -173 | c.925 others(8): Show |
p.Ser others(5): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 955/2493 | 925/2130 | 309/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
MYZAP_chr15_57586904_57690364 | 57688159 | TGTGTGTA others(166): Show |
T | downstream_gene_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 352 | 0.0028 | -173 | c.*36 others(11): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2796 | chr15 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667869 | TCCTTACC others(166): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0003 | 2 | 378 | 0.0053 | -173 | c.148 others(19): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
NUDT13_chr10_73105455_73136823 | 73109301 | ACTCTGTG others(166): Show |
A | upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 324 | 0.0031 | -173 | c.-12 others(11): Show |
NUDT13 | ENSG00000166321.14 | transcript | ENST00000357321.9 | protein_coding | 1153 | chr10 | TogoVar | ||||||
OTUD7A_chr15_31470398_31875673 | 31510686 | CATATGTA others(166): Show |
C | intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0151 | 1 | 244 | 0.0041 | -173 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44113867 | GGCCCTGC others(166): Show |
G | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 332 | 0.0030 | -173 | c.274 others(17): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | chr22 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 746181 | CGGGGGTC others(166): Show |
C | intron_variant | MODIFIER | NA18964.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0068 | a0001c0001t0006g0144a0001c0001t0068g0145 | 2 | 366 | 0.0055 | -173 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 746750 | CGGGGGTC others(166): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0264a0001c0001t0004g0265a0001c0001t0019g0357others(1): Show | 4 | 366 | 0.0109 | -173 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 747320 | CGGGGGTC others(166): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 366 | 0.0027 | -173 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PITPNM3_chr17_6446263_6561555 | 6519181 | CAAAAAAT others(166): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0212 | 1 | 218 | 0.0046 | -173 | c.226 others(17): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 3/19 | chr17 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20126644 | ACACGTTA others(166): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03669.hp2 HG03688.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0096a0002c0002t0002a0002c0002t0005others(1): Show | a0001c0001t0096g0082a0002c0002t0002g0112a0002c0002t0005g0113others(1): Show | 4 | 180 | 0.0222 | -173 | c.542 others(19): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | chr10 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41806476 | CCCATTAC others(166): Show |
C | intron_variant | MODIFIER | NA19055.hp1 NA19056.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0031a0001c0004t0003g0104 | 2 | 406 | 0.0049 | -173 | c.265 others(19): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76310157 | CGGCTAAT others(166): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(34): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0007a0001c0002t0011others(1): Show | a0001c0002t0006g0054a0001c0002t0006g0197a0001c0002t0006g0205others(33): Show | 37 | 366 | 0.1011 | -173 | c.*12 others(11): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 10/10 | 1212 | chr17 | TogoVar | |||||
QRICH2_chr17_76269049_76313276 | 76310157 | CGGCTAAT others(166): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(30): Show |
a0004a0006a0017others(2): Show | a0004c0006a0004c0013a0006c0009others(7): Show | a0004c0006t0002a0004c0013t0002a0006c0009t0002others(7): Show | a0004c0006t0002g0027a0004c0006t0002g0028a0004c0006t0002g0029others(29): Show | 33 | 364 | 0.0907 | -173 | c.-23 others(11): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 1882 | chr17 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58627343 | TAAACACA others(166): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0015a0001c0001t0001g0016others(57): Show | 60 | 220 | 0.2727 | -173 | c.252 others(17): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RHD_chr1_25267509_25335445 | 25331734 | ATTTTTTT others(166): Show |
A | downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0102 | 1 | 214 | 0.0047 | -173 | c.*28 others(11): Show |
RHD | ENSG00000187010.21 | transcript | ENST00000328664.9 | protein_coding | 1290 | chr1 | TogoVar | ||||||
RIPOR3_chr20_50581108_50696542 | 50627383 | ACCTGTAA others(166): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01361.hp2 HG02145.hp1 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0120others(13): Show | 16 | 280 | 0.0571 | -173 | c.122 others(17): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 2/21 | chr20 | TogoVar | ||||||
RNF126_chr19_642526_668214 | 667307 | GGACCACG others(166): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01433.hp1 HG01496.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0016a0002c0003t0001g0309a0002c0003t0001g0310 | 4 | 434 | 0.0092 | -173 | c.-43 others(11): Show |
RNF126 | ENSG00000070423.18 | transcript | ENST00000292363.10 | protein_coding | 4094 | chr19 | TogoVar | ||||||
RSRP1_chr1_25237249_25252454 | 25251922 | GCTCTCTT others(166): Show |
G | upstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 344 | 0.0029 | -173 | c.-48 others(11): Show |
RSRP1 | ENSG00000117616.18 | transcript | ENST00000243189.12 | protein_coding | 4469 | chr1 | TogoVar | ||||||
RTN4RL1_chr17_1929677_2030334 | 1980090 | GCCTCACT others(166): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02615.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0011 | a0001c0001t0011a0001c0001t0025a0001c0001t0093others(3): Show | a0001c0001t0011g0109a0001c0001t0025g0227a0001c0001t0093g0091others(3): Show | 6 | 384 | 0.0156 | -173 | c.14- others(17): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87626271 | TGTCATAT others(166): Show |
T | upstream_gene_variant | MODIFIER | HG01433.hp2 HG03704.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0191a0001c0001t0008g0193a0001c0001t0011g0200 | 3 | 202 | 0.0149 | -173 | c.-25 others(11): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2126 | chr7 | TogoVar | ||||||
SH3BP2_chr4_2788085_2846096 | 2841683 | CCACCACG others(166): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02723.hp2 others(7): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(1): Show | a0001c0003t0016a0001c0004t0089a0001c0004t0096others(4): Show | a0001c0003t0016g0046a0001c0004t0089g0074a0001c0004t0096g0136others(7): Show | 10 | 378 | 0.0265 | -173 | c.*78 others(11): Show |
SH3BP2 | ENSG00000087266.17 | transcript | ENST00000503393.8 | protein_coding | 588 | chr4 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2280653 | ACCCGAGA others(166): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02976.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0011a0001c0001t0015a0001c0012t0011 | a0001c0001t0011g0003a0001c0001t0015g0201a0001c0012t0011g0266 | 4 | 330 | 0.0121 | -173 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2281083 | CGCCCGAG others(166): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0168 | 1 | 330 | 0.0030 | -173 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2282035 | CGAGAAGA others(166): Show |
C | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0193 | 1 | 330 | 0.0030 | -173 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STYK1_chr12_10613923_10679052 | 10660467 | GGGAAATA others(166): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(206): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0015others(198): Show | 209 | 368 | 0.5679 | -173 | c.-19 others(21): Show |
STYK1 | ENSG00000060140.9 | transcript | ENST00000075503.8 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50029190 | ACCCCACA others(166): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0127 | 1 | 224 | 0.0045 | -173 | c.225 others(19): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
UBE2G2_chr21_44763580_44806820 | 44764233 | GGGACACC others(166): Show |
G | downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0004 | a0001c0004t0040 | a0001c0004t0040g0176 | 1 | 368 | 0.0027 | -173 | c.*69 others(11): Show |
UBE2G2 | ENSG00000184787.19 | transcript | ENST00000345496.7 | protein_coding | 4346 | chr21 | TogoVar | ||||||
UNKL_chr16_1358205_1419704 | 1397425 | CCCTGCCC others(166): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0004a0001c0003t0002g0003a0001c0003t0002g0005others(1): Show | 4 | 322 | 0.0124 | -173 | c.735 others(15): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 5/14 | chr16 | TogoVar |