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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF440_chr19_11809273_11840216 | 11828309 | C | CAGCCTGT others(1619): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 376 | 0.0027 | 1626 | c.4-1 others(1639): Show |
ZNF440 | ENSG00000171295.13 | transcript | ENST00000304060.10 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1620): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 58 | 0.0172 | 1627 | c.510 others(1646): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1620): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0006 | a0006c0007 | a0006c0007t0014 | a0006c0007t0014g0018 | 1 | 58 | 0.0172 | 1627 | c.510 others(1646): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1620): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0009 | a0001c0009t0019 | a0001c0009t0019g0039 | 1 | 58 | 0.0172 | 1627 | c.510 others(1646): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716390 | T | TTGGTGTC others(1620): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 170 | 0.0059 | 1627 | c.86- others(1638): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1620): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 168 | 0.0060 | 1627 | c.338 others(1646): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(1620): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 395 | 0.0025 | 1627 | c.*69 others(1638): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322730 | T | TGTATATA others(1620): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0168 | 1 | 323 | 0.0031 | 1627 | c.-23 others(1638): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2239 | chr21 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1620): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0327 | 1 | 402 | 0.0025 | 1627 | c.292 others(1646): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1620): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0339 | 1 | 402 | 0.0025 | 1627 | c.292 others(1646): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1620): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 | 1 | 402 | 0.0025 | 1627 | c.292 others(1646): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1620): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298 a0001c0001t0002g0372 |
2 | 402 | 0.0050 | 1627 | c.292 others(1646): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(1620): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0023 | a0023c0074 | a0023c0074t0001 | a0023c0074t0001g0134 | 1 | 186 | 0.0054 | 1627 | c.723 others(1644): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507402 | G | GGGGGGGT others(1620): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 260 | 0.0039 | 1627 | c.624 others(1644): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(1620): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 256 | 0.0039 | 1627 | c.241 others(1646): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811213 | T | TTCCTTCC others(1620): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0051 | 1 | 178 | 0.0056 | 1627 | c.773 others(1642): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(1620): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 367 | 0.0027 | 1627 | c.4-1 others(1640): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1620): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01257.hp1 HG01975.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 others(7): Show |
10 | 376 | 0.0266 | 1627 | c.141 others(1644): 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(1620): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 376 | 0.0027 | 1627 | c.141 others(1644): 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(1620): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01123.hp1 HG01516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0001t0001g0294 others(1): Show |
4 | 376 | 0.0106 | 1627 | c.141 others(1644): 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(1620): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0011 | a0011c0016 | a0011c0016t0003 | a0011c0016t0003g0187 | 1 | 376 | 0.0027 | 1627 | c.141 others(1644): 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(1620): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 376 | 0.0027 | 1627 | c.141 others(1644): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377417 | C | CCCCCGTG others(1620): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0310 | 1 | 370 | 0.0027 | 1627 | c.-14 others(1638): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1392 | chr19 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1620): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0226 | 1 | 228 | 0.0044 | 1627 | c.127 others(1644): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1620): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 228 | 0.0044 | 1627 | c.127 others(1644): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 410763 | G | GTCCTGGG others(1621): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0028 | 1 | 322 | 0.0031 | 1628 | c.-17 others(1639): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1617 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411101 | G | GGGGGTCT others(1621): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0015 | a0015c0016 | a0015c0016t0087 | a0015c0016t0087g0047 | 1 | 322 | 0.0031 | 1628 | c.-21 others(1639): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1955 | chr19 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(1621): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0366 | 1 | 398 | 0.0025 | 1628 | c.666 others(1643): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500994 | T | TGGTGTGT others(1621): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0261 | 1 | 292 | 0.0034 | 1628 | c.268 others(1647): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725566 | A | AGAGGAAG others(1621): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0289 | 1 | 324 | 0.0031 | 1628 | c.340 others(1645): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1621): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0301 | 1 | 345 | 0.0029 | 1628 | c.*16 others(1639): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(1621): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0067 | 1 | 148 | 0.0068 | 1628 | c.183 others(1647): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1621): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0014 | 1 | 421 | 0.0024 | 1628 | c.*22 others(1639): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322961 | C | CACATATT others(1621): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0022 | 1 | 242 | 0.0041 | 1628 | c.174 others(1647): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(1621): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0258 | 1 | 290 | 0.0035 | 1628 | c.129 others(1645): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537924 | G | GCCCCGTC others(1621): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 256 | 0.0039 | 1628 | c.241 others(1647): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(1621): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0243 | 1 | 326 | 0.0031 | 1628 | c.433 others(1645): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(1621): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18951.hp2 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0001 | a0001c0001t0001g0014 a0007c0009t0001g0013 |
2 | 178 | 0.0112 | 1628 | c.773 others(1643): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1621): Show |
downstream_gene_variant | MODIFIER | NA18963.hp2 | a0007 | a0007c0004 | a0007c0004t0020 | a0007c0004t0020g0143 | 1 | 302 | 0.0033 | 1628 | c.*39 others(1639): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397547 | A | AGGGGGGC others(1621): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0321 | 1 | 340 | 0.0029 | 1628 | c.227 others(1645): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803145 | G | GCCGGGGG others(1621): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0178 a0001c0005t0001g0179 |
2 | 330 | 0.0061 | 1628 | c.-50 others(1639): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4802 | chr9 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547310 | T | TAAATTAT others(1621): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 334 | 0.0030 | 1628 | c.45- others(1643): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1621): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01981.hp1 HG02148.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 a0001c0001t0001g0300 a0001c0001t0001g0306 others(2): Show |
5 | 376 | 0.0133 | 1628 | c.141 others(1645): 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(1621): Show |
intron_variant | MODIFIER | HG01358.hp1 NA18939.hp1 NA18940.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 others(2): Show |
5 | 376 | 0.0133 | 1628 | c.141 others(1645): 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(1621): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 376 | 0.0027 | 1628 | c.141 others(1645): 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(1621): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 376 | 0.0027 | 1628 | c.141 others(1645): 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(1621): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 376 | 0.0027 | 1628 | c.141 others(1645): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(1621): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 404 | 0.0025 | 1628 | c.340 others(1645): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(1622): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0076 | 1 | 262 | 0.0038 | 1629 | c.106 others(1648): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1298242 | T | TCCTACCC others(1622): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0106 | 1 | 159 | 0.0063 | 1629 | c.811 others(1646): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar |