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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(896): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 HG03041.hp2 HG03491.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0017 others(5): Show |
8 | 9 | 0.8889 | 903 | c.-28 others(914): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132392563 | G | GATGATGG others(896): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0080 | 1 | 372 | 0.0027 | 903 | c.-46 others(914): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4636 | chr10 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(896): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0145 | 1 | 19 | 0.0526 | 903 | c.24+ others(920): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134850 | A | ACCCACCC others(896): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0054 | 1 | 368 | 0.0027 | 903 | c.438 others(920): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(896): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0020 a0001c0001t0030g0024 |
2 | 8 | 0.2500 | 903 | c.27+ others(920): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(896): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0036 | 1 | 7 | 0.1429 | 903 | c.27+ others(920): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388608 | T | TAAGCTAA others(896): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0295 | 1 | 298 | 0.0034 | 903 | c.66+ others(918): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SHANK1_chr19_50654255_50724802 | 50678976 | G | GTGGGGAG others(896): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0296 | 1 | 48 | 0.0208 | 903 | c.257 others(922): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
SLC31A1_chr9_113216544_113269492 | 113250305 | T | TAAGAAAA others(896): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0293 | 1 | 375 | 0.0027 | 903 | c.-35 others(920): Show |
SLC31A1 | ENSG00000136868.11 | transcript | ENST00000374212.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(896): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0322 | 1 | 283 | 0.0035 | 903 | c.-12 others(914): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(896): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0126 | 1 | 3 | 0.3333 | 903 | c.597 others(920): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(896): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0283 | 1 | 3 | 0.3333 | 903 | c.597 others(920): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637386 | A | AATATATA others(896): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 NA19083.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 a0001c0002t0002g0072 |
2 | 264 | 0.0076 | 903 | c.*72 others(914): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3852 | chr10 | TogoVar | |||||||
TNNT3_chr11_1914703_1943702 | 1939626 | C | CACACACA others(896): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01515.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0032 others(2): Show |
7 | 14 | 0.5000 | 903 | c.*11 others(914): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 925 | chr11 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870214 | C | CCACACAC others(896): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 289 | 0.0035 | 903 | c.*35 others(922): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(896): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0201 | 1 | 99 | 0.0101 | 903 | c.392 others(920): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(896): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0125 | 1 | 341 | 0.0029 | 903 | c.-6- others(918): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(896): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0157 | 1 | 341 | 0.0029 | 903 | c.-6- others(918): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370314 | T | TGTATGTG others(896): Show |
intron_variant | MODIFIER | HG01952.hp2 HG01975.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0347 a0002c0002t0003g0349 |
2 | 462 | 0.0043 | 903 | c.-6- others(918): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370314 | T | TGTATGTG others(896): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0348 | 1 | 461 | 0.0022 | 903 | c.-6- others(918): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456246 | A | ATATAGTA others(897): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 86 | 0.0116 | 904 | c.505 others(923): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(897): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0006 | a0002c0006t0103 | a0002c0006t0103g0246 | 1 | 82 | 0.0122 | 904 | c.106 others(923): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1833049 | G | GAGGGAGA others(897): Show |
intron_variant | MODIFIER | HG02559.hp2 HG06807.hp2 |
a0001 | a0001c0052a0001c0145 | a0001c0052t0031a0001c0145t0032 | a0001c0052t0031g0093 a0001c0145t0032g0092 |
2 | 360 | 0.0056 | 904 | c.-48 others(921): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(897): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0039 | 1 | 72 | 0.0139 | 904 | c.273 others(921): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79358312 | G | GTGCCCTG others(897): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0169 | 1 | 143 | 0.0070 | 904 | c.290 others(923): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185091948 | T | TAAAATAT others(897): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0022 | 1 | 386 | 0.0026 | 904 | c.197 others(921): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44254770 | A | AACTACCA others(897): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02970.hp1 HG03471.hp2 |
a0001a0002 | a0001c0004a0002c0011 | a0001c0004t0008a0001c0004t0018a0002c0011t0004 | a0001c0004t0008g0031 a0001c0004t0018g0199 a0002c0011t0004g0222 |
3 | 237 | 0.0127 | 904 | c.276 others(919): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065063 | G | GTGATAGT others(897): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0009 | a0009c0016 | a0009c0016t0104 | a0009c0016t0104g0319 | 1 | 331 | 0.0030 | 904 | c.-25 others(915): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2198 | chr11 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133762 | C | CCTCTCTC others(897): Show |
upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 195 | 0.0051 | 904 | c.-42 others(915): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3999 | chr19 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(897): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0023 | 1 | 196 | 0.0051 | 904 | c.181 others(923): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 516740 | G | GAAGGGAG others(897): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0082 | 1 | 12 | 0.0833 | 904 | c.86- others(921): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(897): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0037 | a0037c0052 | a0037c0052t0001 | a0037c0052t0001g0052 | 1 | 127 | 0.0079 | 904 | c.101 others(923): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAJC4_chr11_64225548_64239281 | 64237121 | G | GGGAGAGG others(897): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 307 | 0.0033 | 904 | c.*29 others(915): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2841 | chr11 | TogoVar | |||||||
EED_chr11_86239753_86283810 | 86272056 | A | ATTTTGTT others(897): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 369 | 0.0027 | 904 | c.966 others(921): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272056 | A | ATTTTGTT others(897): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03225.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 |
3 | 371 | 0.0081 | 904 | c.966 others(921): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272057 | T | TTTTTTTT others(897): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 256 | 0.0039 | 904 | c.966 others(921): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329823 | G | GGGGCTAC others(897): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0015 | a0015c0022 | a0015c0022t0001 | a0015c0022t0001g0038 | 1 | 15 | 0.0667 | 904 | c.199 others(923): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053546 | A | ATTCCACA others(897): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01243.hp2 HG01496.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0189 others(2): Show |
5 | 310 | 0.0161 | 904 | c.310 others(919): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(897): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0199 | 1 | 134 | 0.0075 | 904 | c.-28 others(915): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(897): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0026 | 1 | 124 | 0.0081 | 904 | c.*65 others(915): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(897): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 5 | 0.2000 | 904 | c.-41 others(919): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79885784 | A | AGGACAGG others(897): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0122 | 1 | 257 | 0.0039 | 904 | c.625 others(923): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322672 | T | TTATATAT others(897): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0070 | 1 | 217 | 0.0046 | 904 | c.174 others(923): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(897): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0099 | 1 | 16 | 0.0625 | 904 | c.56- others(921): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(897): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0095 | 1 | 16 | 0.0625 | 904 | c.56- others(921): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(897): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 152 | 0.0066 | 904 | c.507 others(921): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(897): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02818.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0023 | a0001c0001t0001a0002c0023t0001 | a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0327 others(1): Show |
4 | 155 | 0.0258 | 904 | c.507 others(921): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(897): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0029 | 1 | 152 | 0.0066 | 904 | c.507 others(921): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(897): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02717.hp2 HG03516.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0047 a0004c0004t0001g0040 a0004c0004t0001g0041 others(2): Show |
5 | 156 | 0.0321 | 904 | c.507 others(921): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(897): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03130.hp1 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0092 a0007c0008t0001g0093 |
2 | 153 | 0.0131 | 904 | c.507 others(921): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar |