| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(426): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02698.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240a0001c0001t0001g0241a0001c0001t0001g0242 | 3 | 300 | 0.0100 | 433 | c.134 others(452): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
| MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(426): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02735.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0003a0001c0002t0001g0004others(2): Show | 5 | 300 | 0.0167 | 433 | c.134 others(452): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
| MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(426): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 300 | 0.0033 | 433 | c.134 others(452): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
| MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(426): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0098a0001c0001t0011g0099 | 2 | 300 | 0.0067 | 433 | c.134 others(452): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
| MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(426): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 300 | 0.0033 | 433 | c.134 others(452): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
| MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(426): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02970.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0112a0001c0001t0001g0115others(2): Show | 5 | 300 | 0.0167 | 433 | c.134 others(452): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
| MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(426): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02074.hp2 HG02083.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125a0001c0001t0001g0244a0001c0001t0001g0245others(7): Show | 10 | 300 | 0.0333 | 433 | c.134 others(452): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
| MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(426): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0182 | 1 | 300 | 0.0033 | 433 | c.134 others(452): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
| MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(426): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 300 | 0.0033 | 433 | c.134 others(452): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
| MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(426): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(148): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0001g0081a0001c0001t0001g0087a0001c0001t0001g0107others(148): Show | 151 | 300 | 0.5033 | 433 | c.134 others(452): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
| MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(426): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 300 | 0.0033 | 433 | c.134 others(452): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
| MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(426): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0028a0001c0001t0002g0029a0001c0001t0002g0030others(66): Show | 69 | 300 | 0.2300 | 433 | c.134 others(452): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
| MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(426): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0053 | 1 | 300 | 0.0033 | 433 | c.134 others(452): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
| MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GTGGGGTG others(426): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02145.hp2 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(9): Show | 12 | 300 | 0.0400 | 433 | c.134 others(452): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | ||||||
| METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(426): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0196 | 1 | 390 | 0.0026 | 433 | c.112 others(450): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(426): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0204 | 1 | 390 | 0.0026 | 433 | c.112 others(450): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| METTL25B_chr1_156723469_156741960 | 156735557 | A | ATAGGCAG others(426): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02148.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 3 | 390 | 0.0077 | 433 | c.112 others(450): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43475478 | G | GGTGATAA others(426): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01433.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0002t0005a0001c0003t0002others(10): Show | a0001c0001t0005g0229a0001c0002t0005g0245a0001c0003t0002g0168others(16): Show | 19 | 250 | 0.0760 | 433 | c.632 others(448): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MPPED1_chr22_43407014_43512848 | 43475478 | G | GGTGATAA others(426): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0169a0001c0001t0005g0171a0001c0001t0005g0175others(2): Show | 5 | 250 | 0.0200 | 433 | c.632 others(448): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(426): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 364 | 0.0028 | 433 | c.*18 others(444): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | ||||||
| MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(426): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 364 | 0.0028 | 433 | c.*18 others(444): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | ||||||
| MRPL24_chr1_156732303_156746088 | 156735557 | A | ATAGGCAG others(426): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 364 | 0.0028 | 433 | c.*18 others(444): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1745 | chr1 | TogoVar | ||||||
| MRPL24_chr1_156732303_156746088 | 156735557 | A | ATAGGCAG others(426): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG02148.hp2 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 364 | 0.0082 | 433 | c.*18 others(444): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1745 | chr1 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 767552 | G | GGGCGAGT others(426): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0348 | 1 | 388 | 0.0026 | 433 | c.159 others(448): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MVP_chr16_29815462_29853021 | 29843574 | G | GAGGGAGG others(426): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 230 | 0.0044 | 433 | c.163 others(450): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NCAPG2_chr7_158626169_158709804 | 158668239 | G | GCCCGCCT others(426): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 378 | 0.0027 | 433 | c.147 others(452): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
| NDUFV3_chr21_42888309_42918299 | 42894401 | T | TTATATAT others(426): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0003 | a0002c0003t0058 | a0002c0003t0058g0172 | 1 | 348 | 0.0029 | 433 | c.48+ others(448): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| NDUFV3_chr21_42888309_42918299 | 42894401 | T | TTATATAT others(426): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0003 | a0002c0003t0029 | a0002c0003t0029g0179 | 1 | 348 | 0.0029 | 433 | c.48+ others(448): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| NDUFV3_chr21_42888309_42918299 | 42894401 | T | TTATATAT others(426): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0175 | 1 | 348 | 0.0029 | 433 | c.48+ others(448): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79494277 | A | ACGGCCGG others(426): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 322 | 0.0031 | 433 | c.278 others(452): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NME4_chr16_392199_405754 | 397652 | C | CGGGGTGG others(426): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 356 | 0.0028 | 433 | c.91+ others(446): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NPEPPS_chr17_47526108_47628276 | 47574051 | T | TAGAAAAT others(426): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085a0001c0001t0002g0086 | 2 | 342 | 0.0059 | 433 | c.418 others(450): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGGAGG others(426): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0002 | a0002c0002t0141 | a0002c0002t0141g0057 | 1 | 344 | 0.0029 | 433 | c.154 others(450): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 949109 | G | GCCTCCTC others(426): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 242 | 0.0041 | 433 | c.360 others(452): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| OPRL1_chr20_64075082_64105633 | 64094108 | G | GGGGGGCA others(426): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 66 | 0.0152 | 433 | c.233 others(450): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| OR11H4_chr14_20234286_20249349 | 20237825 | A | ATAGTATA others(426): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 439 | 0.0023 | 433 | c.-15 others(444): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1460 | chr14 | TogoVar | ||||||
| OSGIN1_chr16_83948240_83971332 | 83951886 | T | TCCGCCCT others(426): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0125 | 1 | 350 | 0.0029 | 433 | c.-15 others(444): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 1353 | chr16 | TogoVar | ||||||
| PALD1_chr10_70473767_70573450 | 70554954 | C | CCCCTCCT others(426): Show |
intron_variant | MODIFIER | HG01884.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015 | a0001c0001t0008g0123a0001c0001t0015g0279 | 2 | 308 | 0.0065 | 433 | c.226 others(452): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PATJ_chr1_61737480_62168915 | 62137533 | G | GGGAAATG others(426): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0008 | a0008c0016 | a0008c0016t0003 | a0008c0016t0003g0005 | 1 | 158 | 0.0063 | 433 | c.527 others(452): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(426): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0085 | 1 | 346 | 0.0029 | 433 | c.176 others(452): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCGGG others(426): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01081.hp2 |
a0040a0041 | a0040c0063a0041c0064 | a0040c0063t0063a0041c0064t0010 | a0040c0063t0063g0189a0041c0064t0010g0190 | 2 | 210 | 0.0095 | 433 | c.45+ others(444): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCGGG others(426): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0006 | a0006c0070 | a0006c0070t0054 | a0006c0070t0054g0207 | 1 | 210 | 0.0048 | 433 | c.45+ others(444): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PYM1_chr12_55896413_55932894 | 55905923 | A | ATATATAT others(426): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0064 | 1 | 344 | 0.0029 | 433 | c.38- others(448): Show |
PYM1 | ENSG00000170473.17 | transcript | ENST00000408946.7 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 492363 | T | TCCCGGGA others(426): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0238 | 1 | 295 | 0.0034 | 433 | c.126 others(452): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(426): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0008 | a0008c0016 | a0008c0016t0002 | a0008c0016t0002g0114 | 1 | 295 | 0.0034 | 433 | c.126 others(452): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 492460 | G | GGGAGACC others(426): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0169 | 1 | 295 | 0.0034 | 433 | c.126 others(452): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 492486 | C | CTCCCCGG others(426): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0020 | 1 | 295 | 0.0034 | 433 | c.126 others(452): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(426): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 304 | 0.0033 | 433 | c.66+ others(448): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(426): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01099.hp2 HG02683.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(5): Show | 8 | 304 | 0.0263 | 433 | c.66+ others(448): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(426): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18949.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030 | 3 | 304 | 0.0099 | 433 | c.66+ others(448): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |