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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKRD31_chr5_75063297_75241878 | 75128422 | A | AGCAATAT others(4452): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG02040.hp2 others(15): Show |
a0004a0005a0012 | a0004c0007a0004c0017a0005c0008others(1): Show | a0004c0007t0001a0004c0017t0001a0005c0008t0001others(2): Show | a0004c0007t0001g0145 a0004c0007t0001g0146 a0004c0007t0001g0147 others(15): Show |
18 | 129 | 0.1395 | 4459 | c.387 others(4478): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 17/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75128422 | A | AGCAATAT others(4452): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0177 | 1 | 112 | 0.0089 | 4459 | c.387 others(4478): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 17/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75128422 | A | AGCAATAT others(4452): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0144 | 1 | 112 | 0.0089 | 4459 | c.387 others(4478): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 17/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75128422 | A | AGCAATAT others(4452): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0173 | 1 | 112 | 0.0089 | 4459 | c.387 others(4478): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 17/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75128422 | A | AGCAATAT others(4452): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0115 | 1 | 112 | 0.0089 | 4459 | c.387 others(4478): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 17/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75128422 | A | AGCAATAT others(4452): Show |
intron_variant | MODIFIER | NA18952.hp1 NA18969.hp1 NA19081.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0099 a0003c0003t0001g0107 a0003c0003t0001g0134 others(1): Show |
4 | 115 | 0.0348 | 4459 | c.387 others(4478): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 17/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75128422 | A | AGCAATAT others(4452): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0058 | 1 | 112 | 0.0089 | 4459 | c.387 others(4478): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 17/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75128422 | A | AGCAATAT others(4452): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0011 | a0011c0023 | a0011c0023t0009 | a0011c0023t0009g0280 | 1 | 112 | 0.0089 | 4459 | c.387 others(4478): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 17/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75128422 | A | AGCAATAT others(4452): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0127 | 1 | 112 | 0.0089 | 4459 | c.387 others(4478): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 17/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75128422 | A | AGCAATAT others(4452): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0148 | 1 | 112 | 0.0089 | 4459 | c.387 others(4478): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 17/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75128422 | A | AGCAATAT others(4453): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0024 | a0001c0024t0007 | a0001c0024t0007g0021 | 1 | 112 | 0.0089 | 4460 | c.387 others(4479): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 17/25 | chr5 | TogoVar | |||||||
CCDC127_chr5_191868_223153 | 212811 | A | ATGCTCAA others(4453): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0104 | 1 | 403 | 0.0025 | 4460 | c.121 others(4477): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(4454): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0005 | a0002c0005t0033 | a0002c0005t0033g0010 | 1 | 212 | 0.0047 | 4461 | c.225 others(4478): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133808 | C | CTCTCTCC others(4455): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 200 | 0.0050 | 4462 | c.-42 others(4473): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3953 | chr19 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4455): Show |
intron_variant | MODIFIER | NA18945.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0051 |
2 | 284 | 0.0070 | 4462 | c.112 others(4479): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(4455): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0008 | a0008c0013 | a0008c0013t0005 | a0008c0013t0005g0008 | 1 | 34 | 0.0294 | 4462 | c.299 others(4477): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68395670 | G | GACCAAAT others(4456): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0157 | 1 | 13 | 0.0769 | 4463 | c.164 others(4480): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(4458): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0129 | 1 | 220 | 0.0045 | 4465 | c.129 others(4484): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4458): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0155 | 1 | 8 | 0.1250 | 4465 | c.-45 others(4474): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4459): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 283 | 0.0035 | 4466 | c.112 others(4483): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364365 | G | GCTTACAC others(4461): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0258 | 1 | 246 | 0.0041 | 4468 | c.129 others(4487): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OSBPL6_chr2_178189512_178407893 | 178307597 | A | ATGGAAGC others(4461): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0162 | 1 | 190 | 0.0053 | 4468 | c.102 others(4485): Show |
OSBPL6 | ENSG00000079156.17 | transcript | ENST00000190611.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(4462): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0011 | 1 | 9 | 0.1111 | 4469 | c.642 others(4486): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(4463): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0115 | 1 | 2 | 0.5000 | 4470 | c.126 others(4487): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(4463): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0012 | 1 | 9 | 0.1111 | 4470 | c.642 others(4487): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OSBPL6_chr2_178189512_178407893 | 178307597 | A | ATGGAAGC others(4463): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0156 | 1 | 190 | 0.0053 | 4470 | c.102 others(4487): Show |
OSBPL6 | ENSG00000079156.17 | transcript | ENST00000190611.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4464): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0219 | 1 | 271 | 0.0037 | 4471 | c.118 others(4490): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
OSBPL6_chr2_178189512_178407893 | 178307597 | A | ATGGAAGC others(4464): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180 | 1 | 190 | 0.0053 | 4471 | c.102 others(4488): Show |
OSBPL6 | ENSG00000079156.17 | transcript | ENST00000190611.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(4465): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0005 | a0001c0005t0040 | a0001c0005t0040g0356 | 1 | 140 | 0.0071 | 4472 | c.37+ others(4485): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OSBPL6_chr2_178189512_178407893 | 178307597 | A | ATGGAAGC others(4465): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 190 | 0.0053 | 4472 | c.102 others(4489): Show |
OSBPL6 | ENSG00000079156.17 | transcript | ENST00000190611.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(4466): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0153 | 1 | 76 | 0.0132 | 4473 | c.955 others(4490): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693564 | A | ACCTCCAC others(4466): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 52 | 0.0192 | 4473 | c.299 others(4490): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4467): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 271 | 0.0037 | 4474 | c.118 others(4493): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4467): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0013 | 1 | 271 | 0.0037 | 4474 | c.118 others(4493): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4467): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02970.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0011a0001c0001t0028others(2): Show | a0001c0001t0003g0111 a0001c0001t0011g0247 a0001c0001t0028g0121 others(2): Show |
5 | 275 | 0.0182 | 4474 | c.118 others(4493): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4467): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 271 | 0.0037 | 4474 | c.118 others(4493): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4467): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 271 | 0.0037 | 4474 | c.118 others(4493): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4467): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0313 | 1 | 271 | 0.0037 | 4474 | c.118 others(4493): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4467): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01952.hp1 HG02109.hp2 others(17): Show |
a0001a0004a0005 | a0001c0001a0004c0011a0005c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0053 a0001c0001t0001g0100 a0001c0001t0002g0127 others(17): Show |
20 | 290 | 0.0690 | 4474 | c.118 others(4493): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4467): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01169.hp1 HG01257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010 | a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0007g0250 others(1): Show |
4 | 274 | 0.0146 | 4474 | c.118 others(4493): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4467): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0297 | 1 | 271 | 0.0037 | 4474 | c.118 others(4493): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4467): Show |
intron_variant | MODIFIER | HG01175.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0070 | a0001c0001t0003g0201 a0001c0001t0070g0186 |
2 | 272 | 0.0074 | 4474 | c.118 others(4493): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4467): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 271 | 0.0037 | 4474 | c.118 others(4493): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4467): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0214 | 1 | 271 | 0.0037 | 4474 | c.118 others(4493): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4467): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0133 | 1 | 23 | 0.0435 | 4474 | c.137 others(4491): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4467): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0155 | 1 | 23 | 0.0435 | 4474 | c.137 others(4491): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4467): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0156 | 1 | 23 | 0.0435 | 4474 | c.137 others(4491): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GBE1_chr3_81484703_81766645 | 81622051 | T | TTTTTTTT others(4467): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0020 | 1 | 302 | 0.0033 | 4474 | c.992 others(4493): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 7/15 | chr3 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(4467): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 112 | 0.0089 | 4474 | c.719 others(4493): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586453 | G | GGGGGAAA others(4470): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0168 | 1 | 289 | 0.0035 | 4477 | c.157 others(4494): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |