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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM52B_chr12_10174032_10196804 | 10193454 | T | TAAGAAAA others(2392): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 430 | 0.0023 | 2399 | c.*33 others(2410): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 1651 | chr12 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333252 | A | AGATGAGG others(2393): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 370 | 0.0027 | 2400 | c.891 others(2417): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333252 | A | AGATGAGG others(2393): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 370 | 0.0027 | 2400 | c.891 others(2417): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2393): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0014 | 1 | 298 | 0.0034 | 2400 | c.126 others(2417): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68475190 | T | TTTTTTGT others(2393): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG02683.hp1 NA21309.hp1 |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0051 a0001c0006t0004g0052 a0001c0006t0004g0088 |
3 | 326 | 0.0092 | 2400 | c.-33 others(2411): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 3218 | chr10 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2393): Show |
downstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 2400 | c.*22 others(2411): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868121 | T | TGTAATGT others(2393): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 301 | 0.0033 | 2400 | c.-11 others(2411): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 826 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868121 | T | TGTAATGT others(2393): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0024 a0001c0001t0012g0092 |
3 | 301 | 0.0100 | 2400 | c.-11 others(2411): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 826 | chr11 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2393): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 116 | 0.0086 | 2400 | c.522 others(2417): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2393): Show |
conservative_inframe_insertion | MODERATE | HG01106.hp1 | a0045 | a0045c0115 | a0045c0115t0001 | a0045c0115t0001g0107 | 1 | 249 | 0.0040 | 2400 | c.381 others(2409): Show |
p.Ser others(2415): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2393): Show |
conservative_inframe_insertion | MODERATE | HG01261.hp2 | a0054 | a0054c0048 | a0054c0048t0001 | a0054c0048t0001g0054 | 1 | 249 | 0.0040 | 2400 | c.381 others(2409): Show |
p.Ser others(2415): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(2393): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0013 | a0013c0009 | a0013c0009t0002 | a0013c0009t0002g0239 | 1 | 332 | 0.0030 | 2400 | c.112 others(2417): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
PRORP_chr14_35117552_35282622 | 35229841 | T | TTCCATTG others(2393): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 314 | 0.0032 | 2400 | c.127 others(2421): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SLC25A16_chr10_68472998_68532523 | 68475190 | T | TTTTTTGT others(2393): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG02683.hp1 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0069 | a0001c0001t0008g0275 a0001c0001t0008g0277 a0001c0001t0008g0281 others(1): Show |
4 | 312 | 0.0128 | 2400 | c.*82 others(2411): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 2807 | chr10 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61329441 | T | TCCCCTCG others(2394): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0054 | 1 | 106 | 0.0094 | 2401 | c.169 others(2420): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68475190 | T | TTTTTTGT others(2394): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0048 | 1 | 326 | 0.0031 | 2401 | c.-33 others(2412): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 3218 | chr10 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68475190 | T | TTTTTTGT others(2394): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0049 a0001c0006t0004g0050 |
2 | 326 | 0.0061 | 2401 | c.-33 others(2412): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 3218 | chr10 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68475190 | T | TTTTTTGT others(2394): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0053 | 1 | 326 | 0.0031 | 2401 | c.-33 others(2412): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 3218 | chr10 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316301 | G | GACACAGA others(2394): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0072 | 1 | 155 | 0.0065 | 2401 | c.487 others(2416): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2394): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0007 | a0007c0028 | a0007c0028t0004 | a0007c0028t0004g0265 | 1 | 294 | 0.0034 | 2401 | c.515 others(2418): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2394): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03225.hp2 NA18522.hp2 |
a0001 | a0001c0013a0001c0019 | a0001c0013t0001a0001c0019t0001 | a0001c0013t0001g0098 a0001c0019t0001g0099 a0001c0019t0001g0100 |
3 | 294 | 0.0102 | 2401 | c.515 others(2418): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
NEURL3_chr2_96492646_96510357 | 96499868 | T | TAACAAAT others(2394): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 394 | 0.0025 | 2401 | c.515 others(2416): Show |
NEURL3 | ENSG00000163121.10 | transcript | ENST00000451794.6 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
NEURL3_chr2_96492646_96510357 | 96499868 | T | TAACAAAT others(2394): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 394 | 0.0025 | 2401 | c.515 others(2416): Show |
NEURL3 | ENSG00000163121.10 | transcript | ENST00000451794.6 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161950986 | G | GAAAGACA others(2394): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03041.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0003c0006t0003 | a0001c0001t0002g0005 a0003c0006t0003g0004 |
2 | 32 | 0.0625 | 2401 | c.734 others(2420): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(2394): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0011 | 1 | 62 | 0.0161 | 2401 | c.*13 others(2414): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51906876 | G | GGAAGGAA others(2394): Show |
downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0041 | 1 | 62 | 0.0161 | 2401 | c.*13 others(2414): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1079 | chr1 | TogoVar | |||||||
SLC25A16_chr10_68472998_68532523 | 68475190 | T | TTTTTTGT others(2394): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0278 | 1 | 312 | 0.0032 | 2401 | c.*82 others(2412): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 2807 | chr10 | TogoVar | |||||||
SLC25A16_chr10_68472998_68532523 | 68475190 | T | TTTTTTGT others(2394): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0279 | 1 | 312 | 0.0032 | 2401 | c.*82 others(2412): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 2807 | chr10 | TogoVar | |||||||
SLC25A16_chr10_68472998_68532523 | 68475190 | T | TTTTTTGT others(2394): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0280 | 1 | 312 | 0.0032 | 2401 | c.*82 others(2412): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 2807 | chr10 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687370 | C | CCCCGTGA others(2395): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 246 | 0.0041 | 2402 | c.-17 others(2413): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1525 | chr8 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(2395): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0049 | a0003c0049t0001 | a0003c0049t0001g0262 | 1 | 344 | 0.0029 | 2402 | c.85- others(2419): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(2395): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0028 | 1 | 40 | 0.0250 | 2402 | c.169 others(2419): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2395): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0032 | a0032c0038 | a0032c0038t0001 | a0032c0038t0001g0061 | 1 | 292 | 0.0034 | 2402 | c.228 others(2419): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2395): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 292 | 0.0034 | 2402 | c.228 others(2419): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2395): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0157 | 1 | 369 | 0.0027 | 2402 | c.-50 others(2413): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
KCNK3_chr2_26687722_26738420 | 26714468 | T | TGGGGCCC others(2395): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0053 | 1 | 336 | 0.0030 | 2402 | c.284 others(2421): Show |
KCNK3 | ENSG00000171303.8 | transcript | ENST00000302909.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2395): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0004 | a0003c0004t0036 | a0003c0004t0036g0070 | 1 | 116 | 0.0086 | 2402 | c.522 others(2419): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161950986 | G | GAAAGACA others(2395): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0007 | a0002c0007t0013 | a0002c0007t0013g0018 | 1 | 32 | 0.0313 | 2402 | c.734 others(2421): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161950986 | G | GAAAGACA others(2395): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0015 | 1 | 32 | 0.0313 | 2402 | c.734 others(2421): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2395): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 356 | 0.0028 | 2402 | c.114 others(2419): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2396): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 334 | 0.0030 | 2403 | c.147 others(2420): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958124 | T | TATAACCA others(2396): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0007 | a0001c0007t0034 | a0001c0007t0034g0018 | 1 | 230 | 0.0044 | 2403 | c.724 others(2422): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2201390 | A | AAACCATC others(2396): Show |
intron_variant | MODIFIER | HG03098.hp2 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0045 a0001c0002t0002g0044 |
2 | 166 | 0.0121 | 2403 | c.102 others(2422): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161950986 | G | GAAAGACA others(2396): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 32 | 0.0313 | 2403 | c.734 others(2422): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161950986 | G | GAAAGACA others(2396): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 32 | 0.0313 | 2403 | c.734 others(2422): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161950990 | G | GACACGTT others(2396): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 32 | 0.0313 | 2403 | c.734 others(2422): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2396): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 375 | 0.0027 | 2403 | c.*44 others(2414): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432147 | C | CAGGGTGG others(2396): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 376 | 0.0053 | 2403 | c.101 others(2420): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453143 | T | TATATAAA others(2396): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 186 | 0.0054 | 2403 | c.-50 others(2414): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4995 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129828762 | G | GGGAGGGA others(2396): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0060 | 1 | 94 | 0.0106 | 2403 | c.79+ others(2420): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar |