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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNX6_chr14_34556093_34635148 | 34557510 | T | TCTTCTCC others(200): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 316 | 0.0032 | 207 | c.*56 others(218): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3582 | chr14 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7449233 | C | CCCTTCCT others(200): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0013 | a0013c0055 | a0013c0055t0006 | a0013c0055t0006g0150 | 1 | 66 | 0.0152 | 207 | c.548 others(226): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24189953 | T | TTATATAT others(200): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0294 | 1 | 35 | 0.0286 | 207 | c.-11 others(228): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35713895 | G | GTTATATA others(200): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0213 | 1 | 238 | 0.0042 | 207 | c.291 others(226): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(200): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 6 | 0.1667 | 207 | c.138 others(226): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63535752 | A | ACCTGGCC others(200): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0072 | 1 | 343 | 0.0029 | 207 | c.*50 others(218): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 2736 | chr20 | TogoVar | |||||||
SRMS_chr20_63533489_63552749 | 63535752 | A | ACCTGGCC others(200): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02559.hp2 others(4): Show |
a0003a0005a0015 | a0003c0004a0003c0017a0005c0007others(1): Show | a0003c0004t0002a0003c0017t0002a0005c0007t0002others(1): Show | a0003c0004t0002g0003 a0003c0004t0002g0022 a0003c0017t0002g0043 others(3): Show |
7 | 349 | 0.0201 | 207 | c.*50 others(218): Show |
SRMS | ENSG00000125508.4 | transcript | ENST00000217188.2 | protein_coding | 2736 | chr20 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90884833 | G | GTATGCAC others(200): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03098.hp2 |
a0001 | a0001c0005 | a0001c0005t0006a0001c0005t0010 | a0001c0005t0006g0369 a0001c0005t0010g0366 |
2 | 279 | 0.0072 | 207 | c.158 others(226): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYT1_chr12_78859774_79457008 | 78876841 | A | AATACATA others(200): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0008 | 1 | 23 | 0.0435 | 207 | c.-21 others(228): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TBC1D2B_chr15_77989985_78082711 | 77992793 | C | CCCCACTC others(200): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0006 | 1 | 246 | 0.0041 | 207 | c.*53 others(218): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2191 | chr15 | TogoVar | |||||||
TCF25_chr16_89868592_89916379 | 89884721 | G | GCCCCTCT others(200): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0052 |
3 | 267 | 0.0112 | 207 | c.429 others(220): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1627871 | G | GCTCACGG others(200): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0204 | 1 | 334 | 0.0030 | 207 | c.299 others(222): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628334 | G | GGGAAGGG others(200): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0274 | 1 | 347 | 0.0029 | 207 | c.299 others(222): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
THADA_chr2_43225851_43601038 | 43298032 | C | CCCCGTCC others(200): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01081.hp1 others(17): Show |
a0001a0004a0005others(2): Show | a0001c0027a0004c0008a0004c0010others(3): Show | a0001c0027t0003a0004c0008t0001a0004c0010t0001others(3): Show | a0001c0027t0003g0001 a0004c0008t0001g0047 a0004c0008t0001g0048 others(17): Show |
20 | 85 | 0.2353 | 207 | c.443 others(226): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 31/37 | chr2 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96404856 | C | CTTCATTT others(200): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0246 | 1 | 254 | 0.0039 | 207 | c.126 others(224): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 10/20 | chr10 | TogoVar | |||||||
TMEM117_chr12_43831081_44394758 | 44027186 | T | TTTATTTT others(200): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 79 | 0.0127 | 207 | c.410 others(226): Show |
TMEM117 | ENSG00000139173.10 | transcript | ENST00000266534.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM117_chr12_43831081_44394758 | 44027186 | T | TTTATTTT others(200): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 79 | 0.0127 | 207 | c.410 others(226): Show |
TMEM117 | ENSG00000139173.10 | transcript | ENST00000266534.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM117_chr12_43831081_44394758 | 44027186 | T | TTTATTTT others(200): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 79 | 0.0127 | 207 | c.410 others(226): Show |
TMEM117 | ENSG00000139173.10 | transcript | ENST00000266534.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM178B_chr7_141069064_141485380 | 141337152 | C | CCATCACC others(200): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0002t0009a0001c0002t0011 | a0001c0001t0017g0037 a0001c0002t0009g0052 a0001c0002t0011g0043 |
3 | 61 | 0.0492 | 207 | c.497 others(228): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TMTC1_chr12_29495840_29788942 | 29643719 | T | TATATAAA others(200): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0003 | a0002c0003t0094 | a0002c0003t0094g0256 | 1 | 35 | 0.0286 | 207 | c.939 others(226): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TNFSF13B_chr13_108264718_108313478 | 108278666 | T | TCCCCTCC others(200): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0356 | 1 | 381 | 0.0026 | 207 | c.425 others(224): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TP73_chr1_3647516_3741201 | 3693722 | T | TGCAATCC others(200): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0329 | 1 | 343 | 0.0029 | 207 | c.186 others(226): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TPSD1_chr16_1251069_1264008 | 1258683 | G | GCCCCCTC others(200): Show |
3_prime_UTR_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0003 | a0003c0003t0073 | a0003c0003t0073g0003 | 1 | 186 | 0.0054 | 207 | c.*31 others(216): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 5/5 | 312 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53005149 | T | TAAAAATA others(200): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 174 | 0.0057 | 207 | c.40+ others(224): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(200): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0010 | 1 | 87 | 0.0115 | 207 | c.41- others(224): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSNARE1_chr8_142207080_142408182 | 142256380 | C | CACCACCA others(200): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01496.hp2 HG02040.hp1 others(4): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0002a0006c0006t0001others(1): Show | a0001c0001t0001g0021 a0001c0001t0002g0024 a0006c0006t0001g0231 others(4): Show |
7 | 236 | 0.0297 | 207 | c.144 others(228): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142256385 | T | TCACCATC others(200): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18612.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0071 |
3 | 81 | 0.0370 | 207 | c.144 others(228): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
TSNARE1_chr8_142207080_142408182 | 142282460 | A | AAGGGGAG others(200): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0100 | 1 | 162 | 0.0062 | 207 | c.136 others(226): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870189 | A | ACACCCCC others(200): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 295 | 0.0034 | 207 | c.*35 others(226): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870213 | C | CCCACACA others(200): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 281 | 0.0036 | 207 | c.*35 others(226): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBE2Z_chr17_48903407_48934056 | 48916425 | A | ATATTTTT others(200): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0180 | 1 | 328 | 0.0030 | 207 | c.690 others(222): Show |
UBE2Z | ENSG00000159202.18 | transcript | ENST00000360943.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UBE3D_chr6_82887390_83070841 | 82934930 | A | ATATATAT others(200): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0120 | 1 | 95 | 0.0105 | 207 | c.114 others(228): Show |
UBE3D | ENSG00000118420.17 | transcript | ENST00000369747.8 | protein_coding | 9/9 | chr6 | TogoVar | |||||||
UGT1A10_chr2_233631448_233778300 | 233725219 | G | GGGAGAGG others(200): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 261 | 0.0038 | 207 | c.856 others(226): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A3_chr2_233724042_233778300 | 233725219 | G | GGGAGAGG others(200): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0003 | 1 | 307 | 0.0033 | 207 | c.-39 others(218): Show |
UGT1A3 | ENSG00000288702.1 | transcript | ENST00000482026.6 | protein_coding | 3822 | chr2 | TogoVar | |||||||
UGT1A4_chr2_233713736_233778300 | 233725219 | G | GGGAGAGG others(200): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0003 | 1 | 287 | 0.0035 | 207 | c.867 others(224): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A5_chr2_233707907_233778300 | 233725219 | G | GGGAGAGG others(200): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 285 | 0.0035 | 207 | c.867 others(226): Show |
UGT1A5 | ENSG00000288705.1 | transcript | ENST00000373414.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A6_chr2_233687890_233778300 | 233725219 | G | GGGAGAGG others(200): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 286 | 0.0035 | 207 | c.861 others(226): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A7_chr2_233676901_233778300 | 233725219 | G | GGGAGAGG others(200): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273 | 1 | 275 | 0.0036 | 207 | c.856 others(226): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A8_chr2_233612633_233778300 | 233725219 | G | GGGAGAGG others(200): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246 | 1 | 251 | 0.0040 | 207 | c.856 others(226): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A9_chr2_233666898_233778300 | 233725219 | G | GGGAGAGG others(200): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 275 | 0.0036 | 207 | c.856 others(226): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533146 | A | ACACCTCC others(200): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0016 | a0016c0016 | a0016c0016t0003 | a0016c0016t0003g0034 | 1 | 47 | 0.0213 | 207 | c.*59 others(216): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 471 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467096 | G | GGGGAGGG others(200): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 184 | 0.0054 | 207 | c.*71 others(216): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 587 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467180 | T | TGTGGGGA others(200): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 209 | 0.0048 | 207 | c.*79 others(216): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 671 | chrX | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159104547 | T | TGCCCTCC others(200): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18969.hp2 NA18975.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0193 a0001c0004t0004g0194 a0001c0004t0004g0195 |
3 | 188 | 0.0160 | 207 | c.260 others(222): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184895590 | T | TCCTCCTC others(200): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0248 | 1 | 271 | 0.0037 | 207 | c.200 others(224): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895600 | C | CCCCCCCC others(200): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0241 | 1 | 260 | 0.0038 | 207 | c.200 others(224): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895600 | C | CCCCCCCT others(200): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0203 | 1 | 260 | 0.0038 | 207 | c.200 others(224): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137182 | C | CATATATG others(200): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02293.hp2 NA18945.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0043 a0002c0002t0002g0070 a0002c0002t0002g0076 others(1): Show |
4 | 239 | 0.0167 | 207 | c.856 others(224): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137182 | C | CATATATG others(200): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0071 | 1 | 236 | 0.0042 | 207 | c.856 others(224): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137182 | C | CATATATG others(200): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0108 | 1 | 236 | 0.0042 | 207 | c.856 others(224): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |