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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NCS1_chr9_130167404_130242303 | 130221881 | A | AATATAAA others(88): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01515.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(9): Show | a0001c0001t0003g0279 a0001c0001t0005g0027 a0001c0001t0010g0282 others(9): Show |
12 | 348 | 0.0345 | 95 | c.308 others(110): Show |
NCS1 | ENSG00000107130.10 | transcript | ENST00000372398.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NF1_chr17_31089977_31382675 | 31335277 | T | TATATATA others(88): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0141 | 1 | 252 | 0.0040 | 95 | c.600 others(112): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 40/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NFE2L3_chr7_26147198_26192137 | 26148248 | G | GGGGGGGT others(88): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 400 | 0.0025 | 95 | c.-42 others(106): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 3949 | chr7 | TogoVar | |||||||
NFE2L3_chr7_26147198_26192137 | 26148328 | C | CCTCCGGG others(88): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016 | 1 | 400 | 0.0025 | 95 | c.-41 others(106): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 3869 | chr7 | TogoVar | |||||||
NFE2L3_chr7_26147198_26192137 | 26148328 | C | CTCCGGGA others(88): Show |
upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0253 | 1 | 400 | 0.0025 | 95 | c.-41 others(106): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 3869 | chr7 | TogoVar | |||||||
NFE2L3_chr7_26147198_26192137 | 26148328 | C | CTCCGGGA others(88): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005 | 1 | 400 | 0.0025 | 95 | c.-41 others(106): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 3869 | chr7 | TogoVar | |||||||
NFE2L3_chr7_26147198_26192137 | 26148328 | C | CTCCGGGA others(88): Show |
upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 400 | 0.0025 | 95 | c.-41 others(106): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 3869 | chr7 | TogoVar | |||||||
NFE2L3_chr7_26147198_26192137 | 26148370 | G | GCCCCCTC others(88): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0150 |
2 | 400 | 0.0050 | 95 | c.-41 others(106): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 3827 | chr7 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571072 | T | TGTCTGGC others(88): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG02148.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 424 | 0.0094 | 95 | c.*26 others(106): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1578 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571074 | T | TGTCTGGC others(88): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0001 |
2 | 424 | 0.0047 | 95 | c.*26 others(106): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1580 | chr16 | TogoVar | |||||||
NLGN4X_chrX_5885042_6233867 | 6049227 | A | AAGGGGAA others(88): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18959.hp1 NA19007.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0099 others(2): Show |
5 | 128 | 0.0391 | 95 | c.473 others(114): Show |
NLGN4X | ENSG00000146938.16 | transcript | ENST00000381095.8 | protein_coding | 2/5 | chrX | TogoVar | |||||||
NOS1AP_chr1_162064691_162375475 | 162264464 | T | TCTTCTCT others(88): Show |
intron_variant | MODIFIER | HG00673.hp2 HG04115.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0006 | a0001c0002t0001g0047 a0001c0003t0006g0012 |
2 | 182 | 0.0110 | 95 | c.178 others(114): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162264464 | T | TCTTCTCT others(88): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01169.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0007 | a0001c0001t0002g0094 a0001c0002t0001g0022 a0001c0003t0007g0073 |
3 | 182 | 0.0165 | 95 | c.178 others(114): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162264464 | T | TCTTCTCT others(88): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0008 | 1 | 182 | 0.0055 | 95 | c.178 others(114): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOX1_chrX_100838324_100879359 | 100853333 | T | TTTCTTTC others(88): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 302 | 0.0033 | 95 | c.805 others(112): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | |||||||
NOX1_chrX_100838324_100879359 | 100853333 | T | TTTCTTTC others(88): Show |
intron_variant | MODIFIER | HG02970.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0159 |
2 | 302 | 0.0066 | 95 | c.805 others(112): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | |||||||
NPIPB8_chr16_28633065_28663744 | 28661890 | G | GTAAAATG others(88): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0068 | 1 | 351 | 0.0029 | 95 | c.*32 others(106): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 3147 | chr16 | TogoVar | |||||||
NTRK2_chr9_84664729_85032054 | 85004039 | A | AAGAAAGA others(88): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0127 | 1 | 170 | 0.0059 | 95 | c.217 others(116): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NTS_chr12_85869295_85887992 | 85879216 | A | ATTTTATG others(88): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0136 | 1 | 420 | 0.0024 | 95 | c.360 others(110): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NTS_chr12_85869295_85887992 | 85879216 | A | ATTTTATG others(88): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01928.hp2 HG01952.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0045 a0001c0001t0001g0112 a0001c0001t0001g0113 others(8): Show |
21 | 420 | 0.0500 | 95 | c.360 others(110): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NUP205_chr7_135552917_135653753 | 135570788 | T | TAATATAT others(88): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 352 | 0.0028 | 95 | c.29- others(108): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | chr7 | TogoVar | |||||||
NXN_chr17_794310_984776 | 948844 | C | CGGCCTCC others(88): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 242 | 0.0041 | 95 | c.360 others(114): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949166 | G | GGCCTCCT others(88): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 242 | 0.0041 | 95 | c.360 others(114): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OBI1_chr13_78609289_78664155 | 78659312 | A | AAAAAAAA others(88): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0093 |
2 | 296 | 0.0068 | 95 | c.-19 others(104): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 158 | chr13 | TogoVar | |||||||
OCLN_chr5_69487790_69563104 | 69515567 | C | CGGCTGGC others(88): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03195.hp1 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 others(3): Show |
6 | 290 | 0.0207 | 95 | c.891 others(112): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ODF3L2_chr19_458361_479983 | 466947 | C | CGGGTGGA others(88): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03139.hp1 HG03195.hp1 others(2): Show |
a0006 | a0006c0010 | a0006c0010t0004 | a0006c0010t0004g0058 a0006c0010t0004g0060 a0006c0010t0004g0066 others(2): Show |
5 | 324 | 0.0154 | 95 | c.349 others(110): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
OMA1_chr1_58475719_58551726 | 58518272 | G | GGGGAGAG others(88): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 384 | 0.0026 | 95 | c.121 others(114): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
OMA1_chr1_58475719_58551726 | 58518312 | A | AGGGAGGG others(88): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0352 | 1 | 384 | 0.0026 | 95 | c.121 others(114): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20238008 | T | TATATTAT others(88): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 439 | 0.0023 | 95 | c.-13 others(106): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1277 | chr14 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20238008 | T | TATATTAT others(88): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02622.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0002g0162 |
3 | 439 | 0.0068 | 95 | c.-13 others(106): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1277 | chr14 | TogoVar | |||||||
OR51F1_chr11_4763979_4774938 | 4773810 | C | CCTGCTGC others(88): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0000 | 1 | 342 | 0.0029 | 95 | c.-38 others(106): Show |
OR51F1 | ENSG00000280021.3 | transcript | ENST00000624103.2 | protein_coding | 3873 | chr11 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22636280 | C | CCCTCTCC others(88): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 362 | 0.0028 | 95 | c.-27 others(112): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22636424 | C | CTCTCCTC others(88): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 362 | 0.0028 | 95 | c.-27 others(112): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31812718 | A | AAAGAAAG others(88): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0104 | 1 | 186 | 0.0054 | 95 | c.729 others(114): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | |||||||
OSCAR_chr19_54089668_54105803 | 54096588 | C | CCCTCCTC others(88): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0226 | 1 | 443 | 0.0023 | 95 | c.373 others(110): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83951760 | T | TCCTCCCT others(88): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 a0001c0001t0004g0025 |
2 | 350 | 0.0057 | 95 | c.-16 others(106): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 1479 | chr16 | TogoVar | |||||||
OSTF1_chr9_75083514_75152265 | 75139056 | T | TTCTTTCT others(88): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0003 | 2 | 366 | 0.0055 | 95 | c.487 others(112): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OXCT1_chr5_41725065_41875425 | 41859870 | T | TATATATA others(88): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0154 |
2 | 200 | 0.0100 | 95 | c.278 others(112): Show |
OXCT1 | ENSG00000083720.13 | transcript | ENST00000196371.10 | protein_coding | 3/16 | chr5 | TogoVar | |||||||
P4HA2_chr5_132185147_132232853 | 132208400 | G | GAGGAGGG others(88): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 426 | 0.0024 | 95 | c.904 others(110): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 7/14 | chr5 | TogoVar | |||||||
PARP16_chr15_65253099_65291883 | 65269200 | C | CTCTCTCT others(88): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 316 | 0.0032 | 95 | c.312 others(112): Show |
PARP16 | ENSG00000138617.16 | transcript | ENST00000649807.2 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36973083 | C | CGGAAAGG others(88): Show |
intron_variant | MODIFIER | HG01517.hp1 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0039 | a0001c0001t0033g0113 a0001c0001t0039g0001 |
2 | 274 | 0.0073 | 95 | c.605 others(112): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36973083 | C | CGGAACGG others(88): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0055 | 1 | 274 | 0.0037 | 95 | c.605 others(112): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36973135 | A | AAAAGGAA others(88): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0130 | 1 | 274 | 0.0037 | 95 | c.605 others(112): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45746946 | G | GCACACGG others(88): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 292 | 0.0034 | 95 | c.-16 others(114): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45746946 | G | GCACACGG others(88): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012 | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(27): Show |
30 | 292 | 0.1027 | 95 | c.-16 others(114): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104119077 | A | ATATATCG others(88): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 200 | 0.0050 | 95 | c.124 others(114): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104119221 | T | TTATATAA others(88): Show |
intron_variant | MODIFIER | HG01081.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0127 a0001c0002t0001g0126 |
2 | 200 | 0.0100 | 95 | c.124 others(114): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977809 | A | ACTCCCCC others(88): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02129.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0123 others(4): Show |
8 | 408 | 0.0196 | 95 | c.214 others(114): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PHACTR3_chr20_59599540_59852711 | 59822110 | G | GCAGCGAT others(88): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 250 | 0.0040 | 95 | c.132 others(116): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571072 | T | TGTCTGGC others(88): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01993.hp1 HG01993.hp2 others(2): Show |
a0001a0003 | a0001c0002a0003c0011 | a0001c0002t0002a0003c0011t0007 | a0001c0002t0002g0005 a0001c0002t0002g0300 a0001c0002t0002g0311 others(2): Show |
5 | 408 | 0.0123 | 95 | c.-10 others(110): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |