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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1707): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0115 | 1 | 82 | 0.0122 | 1714 | c.147 others(1731): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747505 | C | CGGGAGGC others(1707): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0040 | 1 | 238 | 0.0042 | 1714 | c.189 others(1729): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ATACACAC others(1707): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0052 |
2 | 36 | 0.0556 | 1714 | c.*35 others(1733): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1708): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 259 | 0.0039 | 1715 | c.-50 others(1732): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1708): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 259 | 0.0039 | 1715 | c.-50 others(1732): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411244 | A | ATCCTGGG others(1708): Show |
upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0157 | 1 | 309 | 0.0032 | 1715 | c.-22 others(1726): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2098 | chr19 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1708): Show |
intron_variant | MODIFIER | HG03130.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0047 | a0001c0001t0001a0001c0047t0003 | a0001c0001t0001g0033 a0001c0047t0003g0032 |
2 | 14 | 0.1429 | 1715 | c.109 others(1734): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79685061 | G | GGGGTGTG others(1708): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0206 | 1 | 179 | 0.0056 | 1715 | c.314 others(1732): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1708): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 57 | 0.0175 | 1715 | c.*31 others(1726): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1708): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0063 | 1 | 3 | 0.3333 | 1715 | c.219 others(1734): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1708): Show |
intron_variant | MODIFIER | HG02630.hp2 NA20300.hp1 |
a0011 | a0011c0064a0011c0065 | a0011c0064t0040a0011c0065t0034 | a0011c0064t0040g0086 a0011c0065t0034g0069 |
2 | 25 | 0.0800 | 1715 | c.366 others(1734): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322752 | A | ACGGAATG others(1708): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0218 | 1 | 305 | 0.0033 | 1715 | c.-23 others(1726): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2217 | chr21 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63450548 | A | ACTGCTGG others(1708): Show |
intron_variant | MODIFIER | NA18973.hp2 NA18983.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0126 a0002c0001t0002g0127 |
2 | 6 | 0.3333 | 1715 | c.297 others(1732): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132150668 | G | GCTCACAC others(1708): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 216 | 0.0046 | 1715 | c.902 others(1730): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1708): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 2 | 0.5000 | 1715 | c.162 others(1734): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1708): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 5 | 0.2000 | 1715 | c.189 others(1734): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1708): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0178 | 1 | 336 | 0.0030 | 1715 | c.-38 others(1726): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1708): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0173 | 1 | 336 | 0.0030 | 1715 | c.-38 others(1726): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1708): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0004 | a0003c0004t0023 | a0003c0004t0023g0349 | 1 | 92 | 0.0109 | 1715 | c.124 others(1734): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1708): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 | 1 | 18 | 0.0556 | 1715 | c.-28 others(1734): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TP73_chr1_3647516_3741201 | 3693828 | G | GCAATCCC others(1708): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02135.hp2 HG03927.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0152 a0001c0003t0006g0156 a0001c0003t0006g0159 |
3 | 347 | 0.0086 | 1715 | c.186 others(1734): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1709): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 259 | 0.0039 | 1716 | c.-50 others(1733): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411244 | A | ATCCTGGG others(1709): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0152 | 1 | 309 | 0.0032 | 1716 | c.-22 others(1727): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2098 | chr19 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132914589 | C | CCCCGAGG others(1709): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0043 | a0009c0043t0001 | a0009c0043t0001g0209 | 1 | 101 | 0.0099 | 1716 | c.212 others(1735): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1709): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 | 1 | 16 | 0.0625 | 1716 | c.164 others(1735): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLPP_chr19_6356531_6375242 | 6358495 | T | TAAGAGTC others(1709): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 378 | 0.0026 | 1716 | c.-30 others(1727): Show |
CLPP | ENSG00000125656.11 | transcript | ENST00000245816.11 | protein_coding | 3035 | chr19 | TogoVar | |||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1709): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 57 | 0.0175 | 1716 | c.*31 others(1727): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958124 | T | TATAACCA others(1709): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0185 | 1 | 207 | 0.0048 | 1716 | c.724 others(1735): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619557 | T | TCCCCTCC others(1709): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 203 | 0.0049 | 1716 | c.-10 others(1735): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1709): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0017 | a0017c0020 | a0017c0020t0028 | a0017c0020t0028g0018 | 1 | 32 | 0.0313 | 1716 | c.218 others(1731): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877202 | G | GGTTAGGG others(1709): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 233 | 0.0043 | 1716 | c.224 others(1735): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132149529 | A | ACTCCTAC others(1709): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 175 | 0.0057 | 1716 | c.901 others(1731): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149710 | C | CACCACAC others(1709): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 230 | 0.0043 | 1716 | c.901 others(1731): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150321 | C | CACCACAC others(1709): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 251 | 0.0040 | 1716 | c.902 others(1731): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237775 | A | ATATATAG others(1709): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0237 | 1 | 278 | 0.0036 | 1716 | c.-15 others(1727): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1709): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0025 | a0003c0025t0001 | a0003c0025t0001g0012 | 1 | 82 | 0.0122 | 1716 | c.147 others(1733): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502693 | G | GTGGGAGA others(1709): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 176 | 0.0057 | 1716 | c.147 others(1733): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(1709): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0151 | 1 | 207 | 0.0048 | 1716 | c.715 others(1733): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561962 | G | GAGGCTCT others(1709): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0045 | 1 | 168 | 0.0060 | 1716 | c.637 others(1735): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590682 | G | GGCTGATG others(1709): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show |
6 | 348 | 0.0172 | 1716 | c.161 others(1735): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590682 | G | GGCTGATG others(1709): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0174 | 1 | 343 | 0.0029 | 1716 | c.161 others(1735): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948595 | G | GGGGATGT others(1709): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 323 | 0.0031 | 1716 | c.114 others(1733): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1710): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02300.hp1 HG04115.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0061a0004c0004 | a0001c0001t0006a0001c0001t0007a0001c0061t0007others(1): Show | a0001c0001t0006g0149 a0001c0001t0007g0145 a0001c0061t0007g0152 others(1): Show |
4 | 45 | 0.0889 | 1717 | c.179 others(1732): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1710): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 57 | 0.0175 | 1717 | c.*31 others(1728): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1710): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0145 | 1 | 47 | 0.0213 | 1717 | c.338 others(1736): 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(1710): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0010 | 1 | 75 | 0.0133 | 1717 | c.*69 others(1728): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132172980 | C | CCACTCAC others(1710): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0136 | 1 | 143 | 0.0070 | 1717 | c.*11 others(1738): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCCCTCCC others(1710): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0003 | a0003c0020 | a0003c0020t0003 | a0003c0020t0003g0070 | 1 | 17 | 0.0588 | 1717 | c.*11 others(1738): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCTC others(1710): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0022 | 1 | 17 | 0.0588 | 1717 | c.*11 others(1738): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507308 | A | AGGGTAGA others(1710): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0199 | 1 | 205 | 0.0049 | 1717 | c.624 others(1734): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |