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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NKX1-1_chr4_1397932_1411442 | 1397940 | G | GCAGGGTG others(1658): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | 1665 | c.*49 others(1676): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4991 | chr4 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1658): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0007 | a0007c0032 | a0007c0032t0001 | a0007c0032t0001g0014 | 1 | 326 | 0.0031 | 1665 | c.162 others(1684): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(1658): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0201 | 1 | 367 | 0.0027 | 1665 | c.4-1 others(1678): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1658): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02647.hp1 HG02717.hp2 others(12): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(5): Show | a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0102 others(12): Show |
15 | 292 | 0.0514 | 1665 | c.324 others(1682): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1658): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02895.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0042 a0001c0003t0001g0217 a0001c0003t0001g0253 others(1): Show |
4 | 292 | 0.0137 | 1665 | c.324 others(1682): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1658): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0006 | a0006c0020 | a0006c0020t0001 | a0006c0020t0001g0189 | 1 | 292 | 0.0034 | 1665 | c.324 others(1682): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PNMA6E_chrX_153390639_153406350 | 153391239 | A | ACACACAC others(1658): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0004 | a0004c0004 | a0004c0004t0034 | a0004c0004t0034g0096 | 1 | 346 | 0.0029 | 1665 | c.*56 others(1676): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4399 | chrX | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1658): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 334 | 0.0030 | 1665 | c.45- others(1680): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431778 | T | TAGGGTGG others(1658): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0060 | 1 | 376 | 0.0027 | 1665 | c.101 others(1684): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432003 | T | TAGGGTGG others(1658): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038 | 1 | 376 | 0.0027 | 1665 | c.101 others(1682): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TAF11L8_chr5_17585364_17595960 | 17587285 | C | CTATTGAA others(1658): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | 1665 | c.*30 others(1676): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3078 | chr5 | TogoVar | |||||||
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GTTGAAAT others(1658): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | 1665 | c.*30 others(1676): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1658): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 356 | 0.0028 | 1665 | c.114 others(1682): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(1659): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0037 | a0002c0037t0002 | a0002c0037t0002g0130 | 1 | 342 | 0.0029 | 1666 | c.578 others(1679): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619494 | T | TGCTCCCT others(1659): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 250 | 0.0040 | 1666 | c.-10 others(1685): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315770 | T | TACCACCA others(1659): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 250 | 0.0040 | 1666 | c.259 others(1685): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574458 | C | CGTGTGGG others(1659): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 418 | 0.0024 | 1666 | c.119 others(1685): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71680483 | C | CCTTCCTC others(1659): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 76 | 0.0132 | 1666 | c.150 others(1685): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322216 | G | GTATGGAA others(1659): Show |
upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 323 | 0.0031 | 1666 | c.-28 others(1677): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2753 | chr21 | TogoVar | |||||||
KIAA1549L_chr11_33371108_33679102 | 33648576 | T | TTAAATAC others(1659): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02896.hp2 HG03491.hp1 others(4): Show |
a0001 | a0001c0005a0001c0011a0001c0023others(3): Show | a0001c0005t0026a0001c0005t0057a0001c0011t0061others(4): Show | a0001c0005t0026g0052 a0001c0005t0057g0226 a0001c0011t0061g0072 others(4): Show |
7 | 226 | 0.0310 | 1666 | c.576 others(1685): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952378 | G | GGTCAGAG others(1659): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0240 | 1 | 242 | 0.0041 | 1666 | c.360 others(1685): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1659): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0015 | a0015c0021 | a0015c0021t0001 | a0015c0021t0001g0227 | 1 | 334 | 0.0030 | 1666 | c.45- others(1681): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1659): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0304 |
3 | 362 | 0.0083 | 1666 | c.266 others(1681): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377080 | C | CCCCGTGC others(1659): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0319 | 1 | 370 | 0.0027 | 1666 | c.-11 others(1677): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1055 | chr19 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113057440 | A | AAAGAATG others(1660): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0014 | a0014c0019 | a0014c0019t0003 | a0014c0019t0003g0071 | 1 | 80 | 0.0125 | 1667 | c.918 others(1686): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 5/70 | chr8 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947906 | T | TTGGTGGT others(1660): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0036 | a0002c0036t0001 | a0002c0036t0001g0069 | 1 | 136 | 0.0074 | 1667 | c.47- others(1684): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATGTTA others(1660): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0175 |
3 | 402 | 0.0075 | 1667 | c.292 others(1686): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33648576 | T | TTAAATAC others(1660): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03942.hp1 HG04228.hp1 |
a0008a0019 | a0008c0022a0019c0065 | a0008c0022t0018a0008c0022t0043a0019c0065t0015 | a0008c0022t0018g0215 a0008c0022t0043g0130 a0019c0065t0015g0132 |
3 | 226 | 0.0133 | 1667 | c.576 others(1686): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33648576 | T | TTAAATAC others(1660): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01496.hp1 HG02155.hp1 others(8): Show |
a0001 | a0001c0004a0001c0077a0001c0087others(1): Show | a0001c0004t0006a0001c0004t0007a0001c0004t0012others(7): Show | a0001c0004t0006g0015 a0001c0004t0007g0174 a0001c0004t0012g0188 others(8): Show |
11 | 226 | 0.0487 | 1667 | c.576 others(1686): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33648576 | T | TTAAATAC others(1660): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0041 | a0001c0041t0010 | a0001c0041t0010g0086 | 1 | 226 | 0.0044 | 1667 | c.576 others(1686): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LYZL6_chr17_35929518_35948713 | 35945143 | T | TAAAGTAT others(1660): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02818.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0030 | 2 | 415 | 0.0048 | 1667 | c.-17 others(1678): Show |
LYZL6 | ENSG00000275722.5 | transcript | ENST00000615905.5 | protein_coding | 1431 | chr17 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807888 | T | TCCCTCCC others(1660): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 319 | 0.0031 | 1667 | c.-13 others(1678): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1304 | chr2 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952378 | G | GGTCAGAG others(1660): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0202 | 1 | 242 | 0.0041 | 1667 | c.360 others(1686): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952378 | G | GGTCAGAG others(1660): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0015 | a0001c0001t0013g0220 a0001c0001t0015g0239 |
2 | 242 | 0.0083 | 1667 | c.360 others(1686): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952378 | G | GGTCAGAG others(1660): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0172 | 1 | 242 | 0.0041 | 1667 | c.360 others(1686): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952385 | C | GAGACCAA others(1660): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0238 | 1 | 242 | 0.0041 | 1667 | c.360 others(1686): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PNMA6E_chrX_153390639_153406350 | 153391239 | A | ACACACAC others(1660): Show |
downstream_gene_variant | MODIFIER | NA19086.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 346 | 0.0029 | 1667 | c.*56 others(1678): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4399 | chrX | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1660): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0261 | 1 | 334 | 0.0030 | 1667 | c.45- others(1682): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1660): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0126 | 1 | 334 | 0.0030 | 1667 | c.45- others(1682): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1660): Show |
intron_variant | MODIFIER | HG02280.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0285 |
2 | 322 | 0.0062 | 1667 | c.-93 others(1684): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339818 | T | TTCTACCC others(1660): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0146 | 1 | 280 | 0.0036 | 1667 | c.89- others(1680): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GTTGAAAT others(1660): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | 1667 | c.*30 others(1678): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1660): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 362 | 0.0028 | 1667 | c.266 others(1682): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1660): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 362 | 0.0028 | 1667 | c.266 others(1682): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1660): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 |
2 | 362 | 0.0055 | 1667 | c.266 others(1682): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1660): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 362 | 0.0028 | 1667 | c.266 others(1682): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1660): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0027 |
2 | 362 | 0.0055 | 1667 | c.266 others(1682): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870633 | C | CCACACAC others(1660): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0254 | 1 | 338 | 0.0030 | 1667 | c.*35 others(1686): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882049 | G | GGGGGAGA others(1661): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0010 | 1 | 288 | 0.0035 | 1668 | c.303 others(1687): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
DCDC2C_chr2_3698575_3853008 | 3725610 | G | GGAGGAAG others(1661): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0011 | 1 | 324 | 0.0031 | 1668 | c.340 others(1685): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |