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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMPRSS2_chr21_41459305_41513158 | 41474294 | A | AGTGAGGA others(633): Show |
intron_variant | MODIFIER | HG01952.hp1 NA18952.hp2 |
a0001a0002 | a0001c0010a0002c0005 | a0001c0010t0001a0002c0005t0011 | a0001c0010t0001g0290 a0002c0005t0011g0117 |
2 | 382 | 0.0052 | 640 | c.728 others(655): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
TMPRSS2_chr21_41459305_41513158 | 41474314 | A | AGTGAGGA others(633): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0013 | a0013c0023 | a0013c0023t0001 | a0013c0023t0001g0186 | 1 | 382 | 0.0026 | 640 | c.728 others(655): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
TMPRSS2_chr21_41459305_41513158 | 41474314 | A | AGTGAGGA others(633): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0247 | 1 | 382 | 0.0026 | 640 | c.728 others(655): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
TMPRSS2_chr21_41459305_41513158 | 41474494 | A | AGTGAGGA others(633): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02027.hp1 HG02293.hp1 others(2): Show |
a0001a0002 | a0001c0010a0002c0005 | a0001c0010t0001a0002c0005t0001 | a0001c0010t0001g0287 a0002c0005t0001g0028 a0002c0005t0001g0040 others(2): Show |
5 | 382 | 0.0131 | 640 | c.728 others(655): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377593 | T | TCTCCCCT others(633): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0087 | 1 | 114 | 0.0088 | 640 | c.-25 others(659): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2418794 | T | TCCTTCCC others(633): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG01346.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0013a0002c0001a0002c0021others(2): Show | a0001c0013t0001a0002c0001t0001a0002c0001t0002others(3): Show | a0001c0013t0001g0084 a0002c0001t0001g0012 a0002c0001t0001g0014 others(14): Show |
17 | 114 | 0.1491 | 640 | c.215 others(657): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(633): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 384 | 0.0026 | 640 | c.424 others(657): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720832 | T | TCCCCCTT others(633): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0259 | 1 | 334 | 0.0030 | 640 | c.657 others(655): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870316 | C | CACCACAC others(633): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0334 | 1 | 338 | 0.0030 | 640 | c.*35 others(659): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7679116 | G | GTTTATAA others(633): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0119 | 1 | 250 | 0.0040 | 640 | c.82+ others(655): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679116 | G | GTTTATAA others(633): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0088 | 1 | 250 | 0.0040 | 640 | c.82+ others(655): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842829 | T | TATAGATG others(633): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 408 | 0.0025 | 640 | c.53+ others(655): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(633): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0010 | a0010c0016 | a0010c0016t0001 | a0010c0016t0001g0196 | 1 | 408 | 0.0025 | 640 | c.53+ others(655): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(633): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 326 | 0.0031 | 640 | c.483 others(655): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
XG_chrX_2747040_2821500 | 2773518 | A | AGAAGGAA others(633): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 322 | 0.0031 | 640 | c.104 others(657): Show |
XG | ENSG00000124343.14 | transcript | ENST00000644266.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
XG_chrX_2747040_2821500 | 2773518 | A | AGAAGGAA others(633): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 322 | 0.0031 | 640 | c.104 others(657): Show |
XG | ENSG00000124343.14 | transcript | ENST00000644266.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9305458 | T | TAGAGGCT others(634): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0048 a0001c0002t0008g0206 |
2 | 210 | 0.0095 | 641 | c.345 others(658): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(634): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 391 | 0.0026 | 641 | c.*36 others(652): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(634): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 391 | 0.0026 | 641 | c.*36 others(652): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835512 | A | AGGCCCCG others(634): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0051 | 1 | 391 | 0.0026 | 641 | c.*36 others(652): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3495 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410971 | C | CCTGCTGG others(634): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | 641 | c.-20 others(652): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1825 | chr19 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255278 | T | TTATATAT others(634): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0197 |
2 | 330 | 0.0061 | 641 | c.907 others(656): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(634): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0051 | 1 | 58 | 0.0172 | 641 | c.234 others(662): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2909378 | T | TGCCCCTC others(634): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0020 | a0001c0020t0013 | a0001c0020t0013g0051 | 1 | 322 | 0.0031 | 641 | c.326 others(658): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 24/24 | chr7 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(634): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0089 | 1 | 284 | 0.0035 | 641 | c.712 others(658): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(634): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 284 | 0.0035 | 641 | c.712 others(658): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(634): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 256 | 0.0039 | 641 | c.-45 others(662): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(634): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 256 | 0.0039 | 641 | c.-45 others(662): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11284432 | T | TGGATGAG others(634): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0127 | 1 | 194 | 0.0052 | 641 | c.842 others(658): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057546 | T | TATCCAGG others(634): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0169 | 1 | 175 | 0.0057 | 641 | c.164 others(660): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GGGGAAGG others(634): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0004 | a0004c0022 | a0004c0022t0001 | a0004c0022t0001g0148 | 1 | 344 | 0.0029 | 641 | c.85- others(658): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(634): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 396 | 0.0025 | 641 | c.513 others(658): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(634): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 216 | 0.0046 | 641 | c.923 others(660): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(634): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0034 | 1 | 216 | 0.0046 | 641 | c.923 others(660): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(634): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0053 | 1 | 216 | 0.0046 | 641 | c.923 others(660): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539754 | C | CATATATA others(634): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0008 | a0001c0008t0028 | a0001c0008t0028g0113 | 1 | 236 | 0.0042 | 641 | c.-21 others(652): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1510 | chr5 | TogoVar | |||||||
FGF21_chr19_48750524_48763330 | 48758867 | T | TCCCAGCA others(634): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 456 | 0.0022 | 641 | c.*64 others(650): Show |
FGF21 | ENSG00000105550.10 | transcript | ENST00000593756.6 | protein_coding | 538 | chr19 | TogoVar | |||||||
FGF21_chr19_48750524_48763330 | 48758867 | T | TCCCAGCA others(634): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0015 | 1 | 456 | 0.0022 | 641 | c.*64 others(650): Show |
FGF21 | ENSG00000105550.10 | transcript | ENST00000593756.6 | protein_coding | 538 | chr19 | TogoVar | |||||||
FGF21_chr19_48750524_48763330 | 48758867 | T | TCCCAGCA others(634): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 456 | 0.0022 | 641 | c.*64 others(650): Show |
FGF21 | ENSG00000105550.10 | transcript | ENST00000593756.6 | protein_coding | 538 | chr19 | TogoVar | |||||||
FGF21_chr19_48750524_48763330 | 48758867 | T | TCCCAGCA others(634): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 456 | 0.0022 | 641 | c.*64 others(650): Show |
FGF21 | ENSG00000105550.10 | transcript | ENST00000593756.6 | protein_coding | 538 | chr19 | TogoVar | |||||||
FGF21_chr19_48750524_48763330 | 48758867 | T | TCCCAGCA others(634): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 456 | 0.0022 | 641 | c.*64 others(650): Show |
FGF21 | ENSG00000105550.10 | transcript | ENST00000593756.6 | protein_coding | 538 | chr19 | TogoVar | |||||||
FGF21_chr19_48750524_48763330 | 48758867 | T | TCCCAGCA others(634): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00673.hp2 others(78): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(9): Show |
81 | 456 | 0.1776 | 641 | c.*64 others(650): Show |
FGF21 | ENSG00000105550.10 | transcript | ENST00000593756.6 | protein_coding | 538 | chr19 | TogoVar | |||||||
FGF21_chr19_48750524_48763330 | 48758867 | T | TCCCAGCA others(634): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02572.hp1 NA19055.hp1 |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0005t0001a0001c0007t0001 | a0001c0001t0001g0004 a0001c0005t0001g0008 a0001c0007t0001g0030 |
3 | 456 | 0.0066 | 641 | c.*64 others(650): Show |
FGF21 | ENSG00000105550.10 | transcript | ENST00000593756.6 | protein_coding | 538 | chr19 | TogoVar | |||||||
FGF21_chr19_48750524_48763330 | 48758867 | T | TCCCAGCA others(634): Show |
downstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 456 | 0.0022 | 641 | c.*64 others(650): Show |
FGF21 | ENSG00000105550.10 | transcript | ENST00000593756.6 | protein_coding | 538 | chr19 | TogoVar | |||||||
FGF21_chr19_48750524_48763330 | 48758867 | T | TCCCAGCA others(634): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01106.hp2 others(13): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0006t0001 | a0001c0004t0001g0012 a0001c0004t0001g0013 a0001c0004t0001g0032 others(6): Show |
16 | 456 | 0.0351 | 641 | c.*64 others(650): Show |
FGF21 | ENSG00000105550.10 | transcript | ENST00000593756.6 | protein_coding | 538 | chr19 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323024 | T | TATATATA others(634): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 641 | c.-20 others(652): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1945 | chr21 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(634): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02080.hp2 |
a0001a0002 | a0001c0007a0002c0001 | a0001c0007t0001a0002c0001t0006 | a0001c0007t0001g0150 a0002c0001t0006g0151 |
2 | 282 | 0.0071 | 641 | c.623 others(658): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160367 | G | GGGGGCGC others(634): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0016 | a0002c0016t0006 | a0002c0016t0006g0099 | 1 | 158 | 0.0063 | 641 | c.222 others(660): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(634): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0003 | a0003c0020 | a0003c0020t0003 | a0003c0020t0003g0069 | 1 | 158 | 0.0063 | 641 | c.*11 others(662): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(634): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0005 | 1 | 386 | 0.0026 | 641 | c.-46 others(652): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar |