| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| THEG_chr19_356747_381026 | 376879 | C | CCCCCACC others(721): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0003 | a0003c0003 | a0003c0003t0015 | a0003c0003t0015g0244 | 1 | 325 | 0.0031 | 728 | c.-91 others(737): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 854 | chr19 | TogoVar | |||||||
| TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(721): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0130 | 1 | 264 | 0.0038 | 728 | c.189 others(745): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(721): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 115 | 0.0087 | 728 | c.*29 others(739): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
| TSHZ2_chr20_52967358_53500330 | 53204105 | T | TATTATAT others(721): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 125 | 0.0080 | 728 | c.41- others(745): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(721): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 50 | 0.0200 | 728 | c.*24 others(739): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
| UBE2J2_chr1_1248912_1278854 | 1249475 | C | CACGGGCA others(721): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 322 | 0.0031 | 728 | c.*57 others(739): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4436 | chr1 | TogoVar | |||||||
| VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(721): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 177 | 0.0056 | 728 | c.53+ others(743): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
| VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(721): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0157 | 1 | 177 | 0.0056 | 728 | c.53+ others(743): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
| ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(721): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0003g0198 a0001c0002t0001g0009 others(1): Show |
4 | 75 | 0.0533 | 728 | c.205 others(747): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
| ADPRHL1_chr13_113394611_113458488 | 113419014 | T | CCCTTCCT others(722): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 197 | 0.0051 | 729 | c.106 others(748): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
| AHRR_chr5_316714_443285 | 344851 | G | GGTGTGTG others(722): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0219 | 1 | 211 | 0.0047 | 729 | c.62+ others(742): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(722): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0151 | 1 | 94 | 0.0106 | 729 | c.207 others(750): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(722): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 94 | 0.0106 | 729 | c.207 others(750): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| C2CD4C_chr19_400445_414147 | 404936 | A | AACGGGGT others(722): Show |
downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0117 | a0001c0001t0117g0165 | 1 | 146 | 0.0068 | 729 | c.*21 others(740): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 508 | chr19 | TogoVar | |||||||
| C2CD4C_chr19_400445_414147 | 410805 | G | GGGGGTCT others(722): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0040 | 2 | 312 | 0.0064 | 729 | c.-18 others(740): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1659 | chr19 | TogoVar | |||||||
| CCDC77_chr12_396644_447642 | 419781 | T | TTCCATTA others(722): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 361 | 0.0028 | 729 | c.413 others(746): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(722): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0089 | 1 | 11 | 0.0909 | 729 | c.-26 others(738): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
| CNTN6_chr3_1088024_1409217 | 1245281 | A | ATATATAT others(722): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 222 | 0.0045 | 729 | c.358 others(748): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
| CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(722): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0290 | 1 | 85 | 0.0118 | 729 | c.827 others(744): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
| CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(722): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02965.hp1 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0091 a0001c0002t0009g0298 a0001c0002t0009g0299 |
3 | 87 | 0.0345 | 729 | c.827 others(744): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
| CSF2RA_chrX_1263814_1314935 | 1297569 | G | GACCCCTA others(722): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0107 | 1 | 117 | 0.0085 | 729 | c.810 others(746): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CSF2RA_chrX_1263814_1314935 | 1298686 | T | TCCTACCC others(722): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01070.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0064 a0001c0001t0001g0096 a0001c0001t0001g0097 others(17): Show |
20 | 73 | 0.2740 | 729 | c.811 others(746): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CYBC1_chr17_82437586_82455752 | 82448246 | A | AAGTGGAC others(722): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053 | 1 | 138 | 0.0072 | 729 | c.86- others(742): Show |
CYBC1 | ENSG00000178927.19 | transcript | ENST00000306645.10 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 759057 | A | ACCTTCCC others(722): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0001 | 1 | 35 | 0.0286 | 729 | c.18+ others(746): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 400827 | T | TCACCACC others(722): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01243.hp1 HG01496.hp2 others(15): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0031others(11): Show | a0001c0002t0001a0001c0003t0001a0001c0031t0006others(11): Show | a0001c0002t0001g0090 a0001c0002t0001g0253 a0001c0003t0001g0044 others(15): Show |
18 | 183 | 0.0984 | 729 | c.323 others(748): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 400827 | T | TCACCACC others(722): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01109.hp2 HG02109.hp1 others(4): Show |
a0001a0003a0005others(3): Show | a0001c0048a0003c0134a0003c0135others(4): Show | a0001c0048t0013a0003c0134t0001a0003c0135t0001others(4): Show | a0001c0048t0013g0219 a0003c0134t0001g0217 a0003c0135t0001g0173 others(4): Show |
7 | 172 | 0.0407 | 729 | c.323 others(748): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 400975 | C | CACCACCA others(722): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0015 | a0015c0064 | a0015c0064t0001 | a0015c0064t0001g0165 | 1 | 155 | 0.0065 | 729 | c.323 others(748): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| EML1_chr14_99788413_99947060 | 99928008 | G | GTGATGGT others(722): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0095 | 1 | 230 | 0.0043 | 729 | c.190 others(748): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| EP400_chr12_131944942_132085460 | 131998636 | T | TCTTTGTA others(722): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01243.hp2 HG01261.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0066a0002c0001others(4): Show | a0001c0002t0001a0001c0066t0001a0002c0001t0001others(4): Show | a0001c0002t0001g0116 a0001c0066t0001g0073 a0002c0001t0001g0109 others(6): Show |
9 | 82 | 0.1098 | 729 | c.282 others(748): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(722): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105 | 1 | 141 | 0.0071 | 729 | c.282 others(748): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(722): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0177 | 1 | 141 | 0.0071 | 729 | c.282 others(748): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| FARP2_chr2_241351285_241499841 | 241457465 | G | GGGACTGC others(722): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0350 | 1 | 376 | 0.0027 | 729 | c.158 others(746): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| FARP2_chr2_241351285_241499841 | 241457504 | A | ACCCAGTG others(722): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18970.hp2 NA19083.hp1 |
a0002a0018 | a0002c0002a0018c0018 | a0002c0002t0001a0018c0018t0001 | a0002c0002t0001g0200 a0002c0002t0001g0358 a0018c0018t0001g0338 |
3 | 289 | 0.0104 | 729 | c.158 others(746): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| FARP2_chr2_241351285_241499841 | 241457540 | G | GCACTAAG others(722): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG01981.hp1 others(2): Show |
a0002a0011 | a0002c0002a0011c0017 | a0002c0002t0001a0011c0017t0001 | a0002c0002t0001g0256 a0002c0002t0001g0260 a0002c0002t0001g0261 others(2): Show |
5 | 300 | 0.0167 | 729 | c.158 others(746): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| FHIT_chr3_59742277_61256452 | 60861215 | T | TATATGAT others(722): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0009 | 1 | 35 | 0.0286 | 729 | c.-11 others(750): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
| FMR1NB_chrX_147976337_148031665 | 147992469 | C | CCCCCCCC others(722): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 96 | 0.0104 | 729 | c.278 others(748): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(722): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0166 | 1 | 4 | 0.2500 | 729 | c.126 others(746): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(722): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02723.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0003g0110 others(1): Show |
4 | 7 | 0.5714 | 729 | c.126 others(746): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(722): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0167 | 1 | 4 | 0.2500 | 729 | c.126 others(746): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241807935 | T | TCCCCCCT others(722): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 296 | 0.0034 | 729 | c.*37 others(740): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3649 | chr2 | TogoVar | |||||||
| GAS6_chr13_113815549_113869076 | 113824259 | C | CGGTCTGG others(722): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 1 | 142 | 0.0070 | 729 | c.147 others(746): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
| GRINA_chr8_143985056_143998415 | 143988242 | T | TGGGTTCA others(722): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 2 | 0.5000 | 729 | c.-19 others(740): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1813 | chr8 | TogoVar | |||||||
| HNF4A_chr20_44350699_44437845 | 44404776 | T | TGTGTTTG others(722): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0046a0001c0001t0047 | a0001c0001t0018g0209 a0001c0001t0018g0210 a0001c0001t0018g0307 others(2): Show |
5 | 166 | 0.0301 | 729 | c.50- others(744): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(722): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18999.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 a0001c0001t0004g0172 a0001c0001t0004g0173 |
3 | 151 | 0.0199 | 729 | c.804 others(746): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(722): Show |
upstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 62 | 0.0161 | 729 | c.-21 others(740): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
| IFT140_chr16_1505427_1617072 | 1599452 | G | GCCGTCCG others(722): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18959.hp2 NA19079.hp1 others(1): Show |
a0002a0024a0031 | a0002c0003a0024c0033a0031c0035 | a0002c0003t0003a0024c0033t0003a0031c0035t0003 | a0002c0003t0003g0007 a0002c0003t0003g0009 a0024c0033t0003g0018 others(1): Show |
4 | 148 | 0.0270 | 729 | c.369 others(746): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
| IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAAG others(722): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0138 | 1 | 233 | 0.0043 | 729 | c.127 others(748): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
| KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(722): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 77 | 0.0130 | 729 | c.-27 others(740): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
| KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(722): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01943.hp2 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 79 | 0.0380 | 729 | c.-27 others(740): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
| KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(722): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 NA19088.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0001 a0002c0002t0001g0003 |
2 | 78 | 0.0256 | 729 | c.-27 others(740): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar |