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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1631): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0017 | a0017c0045 | a0017c0045t0002 | a0017c0045t0002g0018 | 1 | 334 | 0.0030 | 1638 | c.45- others(1653): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744739 | T | TCCTGGTT others(1631): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0008 | a0001c0008t0054 | a0001c0008t0054g0169 | 1 | 196 | 0.0051 | 1638 | c.655 others(1655): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1631): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 322 | 0.0031 | 1638 | c.-93 others(1655): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432120 | T | TAGGGTGG others(1631): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0070 | 1 | 376 | 0.0027 | 1638 | c.101 others(1655): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UBE2QL1_chr5_6443859_6501723 | 6448622 | G | GCAGAGCA others(1631): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0220 | 1 | 340 | 0.0029 | 1638 | c.-27 others(1647): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 236 | chr5 | TogoVar | |||||||
UBE2QL1_chr5_6443859_6501723 | 6448622 | G | GCAGAGCA others(1631): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0270 |
2 | 340 | 0.0059 | 1638 | c.-27 others(1647): Show |
UBE2QL1 | ENSG00000215218.4 | transcript | ENST00000399816.4 | protein_coding | 236 | chr5 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1632): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 334 | 0.0030 | 1639 | c.147 others(1656): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1632): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0013 | a0002c0013t0021 | a0002c0013t0021g0071 | 1 | 272 | 0.0037 | 1639 | c.109 others(1658): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1632): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0003 | a0003c0003t0027 | a0003c0003t0027g0022 | 1 | 276 | 0.0036 | 1639 | c.*52 others(1650): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36396372 | A | ACTACGGA others(1632): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0110 | 1 | 144 | 0.0069 | 1639 | c.-73 others(1658): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1632): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0267 | 1 | 290 | 0.0035 | 1639 | c.162 others(1658): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716419 | T | TTGGTGTC others(1632): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0061 | 1 | 170 | 0.0059 | 1639 | c.86- others(1652): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71680628 | T | TCCCTCTC others(1632): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0074 | 1 | 76 | 0.0132 | 1639 | c.150 others(1658): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | chr7 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323291 | T | TATATATA others(1632): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 323 | 0.0031 | 1639 | c.-17 others(1650): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1678 | chr21 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1632): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 402 | 0.0025 | 1639 | c.292 others(1658): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATATTA others(1632): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 402 | 0.0025 | 1639 | c.292 others(1658): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1632): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 402 | 0.0025 | 1639 | c.292 others(1658): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1632): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 402 | 0.0025 | 1639 | c.292 others(1658): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1632): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 402 | 0.0025 | 1639 | c.292 others(1658): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1632): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 402 | 0.0025 | 1639 | c.292 others(1658): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1632): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0187 | 1 | 402 | 0.0025 | 1639 | c.292 others(1658): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1632): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 402 | 0.0025 | 1639 | c.292 others(1658): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1632): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 376 | 0.0027 | 1639 | c.141 others(1656): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1632): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02300.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0216 a0001c0003t0002g0225 |
2 | 376 | 0.0053 | 1639 | c.141 others(1656): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(1632): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0086 | 1 | 214 | 0.0047 | 1639 | c.206 others(1658): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(1632): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0238 | 1 | 356 | 0.0028 | 1639 | c.114 others(1656): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049636 | C | CACATGGG others(1633): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0099 | 1 | 308 | 0.0033 | 1640 | c.*50 others(1651): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2467 | chr8 | TogoVar | |||||||
B3GAT1_chr11_134373508_134417242 | 134408929 | T | TTCCAGTG others(1633): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0190 | 1 | 352 | 0.0028 | 1640 | c.-28 others(1659): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410934 | C | CCTGCTGG others(1633): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01952.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0026a0002c0003t0023 | a0001c0001t0026g0027 a0002c0003t0023g0122 |
3 | 322 | 0.0093 | 1640 | c.-19 others(1651): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1788 | chr19 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1633): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 272 | 0.0037 | 1640 | c.109 others(1659): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1633): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0177 | 1 | 272 | 0.0037 | 1640 | c.109 others(1659): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933705 | G | GAGAGGAA others(1633): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0167 | 1 | 386 | 0.0026 | 1640 | c.198 others(1655): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
FAM118A_chr22_45304934_45346955 | 45328066 | A | ATGGGCTG others(1633): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0131 | 1 | 416 | 0.0024 | 1640 | c.522 others(1653): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1633): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0161 | 1 | 416 | 0.0024 | 1640 | c.522 others(1655): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1633): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0078 | 1 | 416 | 0.0024 | 1640 | c.522 others(1655): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1633): Show |
intron_variant | MODIFIER | HG03927.hp2 NA20905.hp1 |
a0017a0030 | a0017c0013a0030c0028 | a0017c0013t0001a0030c0028t0003 | a0017c0013t0001g0036 a0030c0028t0003g0120 |
2 | 168 | 0.0119 | 1640 | c.338 others(1659): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185174 | T | TTCCCCTT others(1633): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0004 | a0004c0098 | a0004c0098t0008 | a0004c0098t0008g0155 | 1 | 174 | 0.0058 | 1640 | c.193 others(1659): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1633): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0004 | a0004c0004 | a0004c0004t0007 | a0004c0004t0007g0099 | 1 | 292 | 0.0034 | 1640 | c.218 others(1655): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PIAS4_chr19_4002736_4044386 | 4035959 | A | ACACCCGC others(1633): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02970.hp2 |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0030 a0001c0006t0004g0031 a0001c0006t0004g0032 |
3 | 334 | 0.0090 | 1640 | c.114 others(1659): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIGN_chr18_62036164_62192056 | 62103371 | G | GGAAAAAC others(1633): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18944.hp2 NA18946.hp1 others(11): Show |
a0001a0008 | a0001c0008a0001c0021a0008c0012 | a0001c0008t0032a0001c0008t0033a0001c0008t0058others(7): Show | a0001c0008t0032g0291 a0001c0008t0032g0293 a0001c0008t0032g0295 others(11): Show |
14 | 342 | 0.0409 | 1640 | c.186 others(1657): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 20/30 | chr18 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 494827 | T | TGGGAGGT others(1633): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0166 | 1 | 295 | 0.0034 | 1640 | c.126 others(1659): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494827 | T | TGGGAGGT others(1633): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03486.hp1 |
a0003 | a0003c0005 | a0003c0005t0014 | a0003c0005t0014g0022 a0003c0005t0014g0024 |
2 | 295 | 0.0068 | 1640 | c.126 others(1659): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494827 | T | TGGGAGGT others(1633): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(44): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0182 a0001c0001t0001g0266 a0001c0001t0001g0268 others(44): Show |
47 | 295 | 0.1593 | 1640 | c.126 others(1659): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494827 | T | TGGGAGGT others(1633): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0173 | 1 | 295 | 0.0034 | 1640 | c.126 others(1659): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGCAGGAT others(1633): Show |
intron_variant | MODIFIER | HG03139.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 a0001c0001t0001g0292 |
2 | 295 | 0.0068 | 1640 | c.126 others(1659): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1633): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18970.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001 | a0001c0002t0002g0104 a0002c0001t0001g0068 |
2 | 134 | 0.0149 | 1640 | c.-28 others(1659): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35714092 | A | ATATAGTA others(1633): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0147 | 1 | 268 | 0.0037 | 1640 | c.291 others(1659): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35714092 | A | ATATAGTA others(1633): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02976.hp2 |
a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0142 a0007c0011t0001g0143 |
2 | 268 | 0.0075 | 1640 | c.291 others(1659): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35714092 | A | ATATAGTA others(1633): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0007 | a0007c0044 | a0007c0044t0001 | a0007c0044t0001g0146 | 1 | 268 | 0.0037 | 1640 | c.291 others(1659): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1634): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 298 | 0.0034 | 1641 | c.955 others(1658): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |