| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ASMTL_chrX_1398139_1457909 | 1408124 | GCAGGAGG others(1883): Show |
G | intron_variant | MODIFIER | HG01981.hp1 HG02559.hp1 HG02922.hp1 others(1): Show |
a0002a0005a0008 | a0002c0015a0005c0027a0008c0018 | a0002c0015t0001a0005c0027t0001a0008c0018t0001 | a0002c0015t0001g0001a0005c0027t0001g0175a0008c0018t0001g0181 | 4 | 185 | 0.0216 | -1890 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408229 | GCAGGAGG others(1883): Show |
G | intron_variant | MODIFIER | HG02293.hp1 HG02630.hp2 HG02886.hp1 others(3): Show |
a0002a0003 | a0002c0004a0002c0012a0003c0002others(1): Show | a0002c0004t0001a0002c0012t0001a0003c0002t0001others(1): Show | a0002c0004t0001g0089a0002c0004t0001g0149a0002c0012t0001g0103others(3): Show | 6 | 185 | 0.0324 | -1890 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1077090 | CCGGGAGG others(1883): Show |
C | downstream_gene_variant | MODIFIER | NA18954.hp1 NA18975.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053a0001c0002t0002g0254 | 2 | 326 | 0.0061 | -1890 | c.*39 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4732 | chr1 | TogoVar | ||||||
| MUC22_chr6_31005474_31040402 | 31027084 | GGGCTCTG others(1883): Show |
G | disruptive_inframe_deletion | MODERATE | HG01109.hp2 HG02559.hp1 HG02809.hp1 others(1): Show |
a0034a0107 | a0034c0050a0034c0129a0107c0120 | a0034c0050t0001a0034c0050t0003a0034c0129t0001others(1): Show | a0034c0050t0001g0141a0034c0050t0003g0129a0034c0129t0001g0139others(1): Show | 4 | 461 | 0.0087 | -1890 | c.166 others(9): Show |
p.Met others(14): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 1901/6019 | 1668/5322 | 556/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| ASMT_chrX_1610059_1648081 | 1637121 | CCCATCCT others(1882): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0188 | 1 | 223 | 0.0045 | -1889 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GALNT9_chr12_132191372_132334589 | 132298686 | CCACCCCT others(1882): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02683.hp2 HG02895.hp1 others(1): Show |
a0001a0002 | a0001c0004a0001c0005a0001c0035others(1): Show | a0001c0004t0001a0001c0005t0001a0001c0035t0009others(1): Show | a0001c0004t0001g0157a0001c0005t0001g0008a0001c0035t0009g0140others(1): Show | 4 | 183 | 0.0219 | -1889 | c.239 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| ZDHHC21_chr9_14606071_14698432 | 14686700 | TAGTGGCT others(1882): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02258.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0033others(5): Show | a0001c0001t0001g0068a0001c0001t0012g0066a0001c0001t0012g0069others(10): Show | 13 | 414 | 0.0314 | -1889 | c.-17 others(19): Show |
ZDHHC21 | ENSG00000175893.12 | transcript | ENST00000380916.9 | protein_coding | 2/9 | chr9 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429523 | GCTGTGCC others(1881): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG02717.hp1 |
a0002 | a0002c0005 | a0002c0005t0034 | a0002c0005t0034g0055a0002c0005t0034g0056 | 2 | 360 | 0.0056 | -1888 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CCDC146_chr7_77117615_77300204 | 77143631 | ATATGGCT others(1881): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp2 HG02818.hp2 others(4): Show |
a0002a0005 | a0002c0002a0002c0022a0005c0013 | a0002c0002t0002a0002c0022t0001a0002c0022t0002others(1): Show | a0002c0002t0002g0036a0002c0022t0001g0223a0002c0022t0002g0035others(4): Show | 7 | 248 | 0.0282 | -1888 | c.-12 others(19): Show |
CCDC146 | ENSG00000135205.15 | transcript | ENST00000285871.5 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241805524 | CTCCCCCC others(1881): Show |
C | downstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 314 | 0.0032 | -1888 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1238 | chr2 | TogoVar | ||||||
| ANK2_chr4_113044653_113388736 | 113208034 | TGAAATGA others(1879): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02486.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0097a0001c0001t0001g0101a0002c0002t0001g0035others(2): Show | 5 | 178 | 0.0281 | -1886 | c.384 others(18): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 4/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1429834 | GTCTGGTC others(1879): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0115 | 1 | 360 | 0.0028 | -1886 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
| RPRD1A_chr18_35984824_36072559 | 36060172 | TTGTAATC others(1879): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0284 | 1 | 318 | 0.0031 | -1886 | c.151 others(17): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 1/6 | chr18 | TogoVar | ||||||
| TPSB2_chr16_1223336_1235184 | 1233300 | AGGCATGA others(1877): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG03579.hp2 others(1): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0003c0003t0002a0005c0005t0005 | a0001c0001t0001g0001a0003c0003t0002g0003a0005c0005t0005g0021 | 4 | 344 | 0.0116 | -1884 | c.-50 others(11): Show |
TPSB2 | ENSG00000197253.14 | transcript | ENST00000606293.5 | protein_coding | 3117 | chr16 | TogoVar | ||||||
| ANKRD36C_chr2_95844548_95996824 | 95957817 | ATCCAAAA others(1875): Show |
A | exon_loss_variant | HIGH | HG01192.hp2 | a0024 | a0024c0031 | a0024c0031t0001 | a0024c0031t0001g0149 | 1 | 298 | 0.0034 | -1882 | c.100 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 12/88 | chr2 | TogoVar | ||||||
| CFAP61_chr20_20047532_20365698 | 20191665 | ATAGCTTT others(1873): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090a0001c0001t0003g0093 | 2 | 236 | 0.0085 | -1880 | c.159 others(18): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2122022 | GTGGTAGT others(1873): Show |
G | intron_variant | MODIFIER | NA18945.hp2 NA18964.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097a0001c0002t0001g0101 | 2 | 286 | 0.0070 | -1880 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
| ANKRD36C_chr2_95844548_95996824 | 95918788 | GTTAGATA others(1872): Show |
G | exon_loss_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show |
a0002a0004a0008others(9): Show | a0002c0004a0002c0007a0002c0013others(14): Show | a0002c0004t0001a0002c0007t0001a0002c0013t0001others(14): Show | a0002c0004t0001g0003a0002c0004t0001g0019a0002c0004t0001g0021others(96): Show | 101 | 298 | 0.3389 | -1879 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745410 | TCCGTGGA others(1872): Show |
T | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0173 | 1 | 366 | 0.0027 | -1879 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| TFDP2_chr3_141939428_142154544 | 141965120 | TTCACAGC others(1872): Show |
T | intron_variant | MODIFIER | HG03130.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0096 | a0001c0001t0004g0232a0001c0001t0096g0231 | 2 | 252 | 0.0079 | -1879 | c.733 others(17): Show |
TFDP2 | ENSG00000114126.18 | transcript | ENST00000489671.6 | protein_coding | 9/12 | chr3 | TogoVar | ||||||
| HK1_chr10_69273496_69406882 | 69298907 | CACCAAAT others(1871): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0012a0001c0015a0001c0023others(1): Show | a0001c0012t0001a0001c0015t0001a0001c0023t0009others(1): Show | a0001c0012t0001g0148a0001c0012t0001g0231a0001c0012t0001g0236others(4): Show | 7 | 280 | 0.0250 | -1878 | c.75+ others(15): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| IFT88_chr13_20562157_20696444 | 20682002 | TTGTTTTC others(1871): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 308 | 0.0033 | -1878 | c.224 others(19): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 24/25 | chr13 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744724 | TTCGCCGT others(1871): Show |
T | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0154 | 1 | 366 | 0.0027 | -1878 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SGSM2_chr17_2332501_2386054 | 2349248 | CGCCTGTA others(1870): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0041 | a0002c0041t0001 | a0002c0041t0001g0312 | 1 | 422 | 0.0024 | -1877 | c.133 others(17): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ANKRD36C_chr2_95844548_95996824 | 95907191 | GTCTTTCA others(1867): Show |
G | exon_loss_variant | HIGH | HG03491.hp1 HG03492.hp1 |
a0023 | a0023c0019 | a0023c0019t0002 | a0023c0019t0002g0218a0023c0019t0002g0267 | 2 | 298 | 0.0067 | -1874 | c.285 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 48/88 | chr2 | TogoVar | ||||||
| ANKRD36C_chr2_95844548_95996824 | 95919022 | AAAGTCAA others(1867): Show |
A | exon_loss_variant | HIGH | HG00544.hp2 | a0005 | a0005c0022 | a0005c0022t0001 | a0005c0022t0001g0121 | 1 | 298 | 0.0034 | -1874 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | ||||||
| ANKRD36C_chr2_95844548_95996824 | 95919176 | AGTGAAGT others(1867): Show |
A | exon_loss_variant | HIGH | NA19043.hp2 | a0038 | a0038c0037 | a0038c0037t0001 | a0038c0037t0001g0273 | 1 | 298 | 0.0034 | -1874 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | ||||||
| ANKRD36C_chr2_95844548_95996824 | 95919311 | CTTCTACA others(1867): Show |
C | exon_loss_variant | HIGH | HG00673.hp1 | a0005 | a0005c0022 | a0005c0022t0001 | a0005c0022t0001g0293 | 1 | 298 | 0.0034 | -1874 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | ||||||
| ANKRD36C_chr2_95844548_95996824 | 95919491 | CTATTTCT others(1867): Show |
C | exon_loss_variant | HIGH | HG01884.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
a0005a0021 | a0005c0008a0005c0038a0021c0042 | a0005c0008t0001a0005c0038t0001a0021c0042t0001 | a0005c0008t0001g0004a0005c0008t0001g0276a0005c0008t0001g0278others(6): Show | 10 | 298 | 0.0336 | -1874 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288255 | TCCCGTGT others(1866): Show |
T | downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 295 | 0.0034 | -1873 | c.*34 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4135 | chr1 | TogoVar | ||||||
| MYO10_chr5_16656907_16941288 | 16889478 | AGAAGGAA others(1866): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02717.hp1 others(6): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0022a0002c0002others(4): Show | a0001c0001t0161a0001c0022t0157a0002c0002t0160others(5): Show | a0001c0001t0161g0269a0001c0022t0157g0265a0002c0002t0160g0267others(6): Show | 9 | 272 | 0.0331 | -1873 | c.22- others(17): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | ||||||
| RABGAP1L_chr1_174154520_175000308 | 174493201 | TTAAACAA others(1866): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0003 | a0002c0003t0026 | a0002c0003t0026g0076 | 1 | 272 | 0.0037 | -1873 | c.171 others(22): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | chr1 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288255 | TCCCGTGT others(1866): Show |
T | intron_variant | MODIFIER | HG02723.hp2 NA19056.hp2 |
a0001a0010 | a0001c0001a0010c0035 | a0001c0001t0005a0010c0035t0009 | a0001c0001t0005g0235a0010c0035t0009g0280 | 2 | 290 | 0.0069 | -1873 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ANKRD36_chr2_97108153_97269521 | 97204663 | ACTGTAGG others(1865): Show |
A | exon_loss_variant | HIGH | HG03927.hp2 | a0035 | a0035c0062 | a0035c0062t0004 | a0035c0062t0004g0042 | 1 | 212 | 0.0047 | -1872 | c.306 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 51/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560546 | GCCCTGAG others(1865): Show |
G | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 180 | 0.0056 | -1872 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ACAP3_chr1_1287391_1312930 | 1288275 | CCCCGAGT others(1864): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0213 | 1 | 295 | 0.0034 | -1871 | c.*34 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4115 | chr1 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288275 | CCCCGAGT others(1864): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0011 | a0011c0023 | a0011c0023t0001 | a0011c0023t0001g0265 | 1 | 290 | 0.0035 | -1871 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KLB_chr4_39401930_39456533 | 39422871 | CCTGCCTC others(1860): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0012 | a0001c0002t0004g0105a0001c0002t0004g0106a0001c0002t0004g0107others(3): Show | 6 | 380 | 0.0158 | -1867 | c.826 others(18): Show |
KLB | ENSG00000134962.7 | transcript | ENST00000257408.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ANKRD36_chr2_97108153_97269521 | 97207905 | TTTATTAT others(1859): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00423.hp1 HG01099.hp2 others(46): Show |
a0002a0004a0011others(7): Show | a0002c0002a0004c0005a0004c0024others(8): Show | a0002c0002t0001a0002c0002t0002a0004c0005t0004others(11): Show | a0002c0002t0001g0017a0002c0002t0001g0052a0002c0002t0001g0053others(46): Show | 49 | 212 | 0.2311 | -1866 | c.319 others(15): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 54/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| IL3RA_chrX_1331785_1387689 | 1370590 | GGTCTCCA others(1859): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0014 | a0014c0006 | a0014c0006t0002 | a0014c0006t0002g0043 | 1 | 115 | 0.0087 | -1866 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL3RA_chrX_1331785_1387689 | 1372962 | CCTGCCCA others(1858): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 115 | 0.0087 | -1865 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL3RA_chrX_1331785_1387689 | 1370189 | CCTCCAGC others(1856): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 115 | 0.0087 | -1863 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL3RA_chrX_1331785_1387689 | 1373856 | CATCTCCA others(1856): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG02451.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0078a0001c0001t0006g0085a0001c0001t0006g0086others(1): Show | 4 | 115 | 0.0348 | -1863 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | chrX | TogoVar | ||||||
| AK3_chr9_4704556_4746202 | 4734954 | CAAAAGAG others(1855): Show |
C | intron_variant | MODIFIER | HG02615.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0067 | a0001c0001t0011g0018a0001c0001t0067g0209 | 2 | 462 | 0.0043 | -1862 | c.151 others(17): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1369881 | AGGGAGAA others(1855): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0016 | a0016c0004 | a0016c0004t0007 | a0016c0004t0007g0093 | 1 | 115 | 0.0087 | -1862 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76304876 | CATTTTAG others(1855): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01074.hp1 others(31): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0080others(21): Show | a0001c0001t0005a0001c0001t0008a0001c0004t0006others(27): Show | a0001c0001t0005g0025a0001c0001t0005g0047a0001c0001t0008g0068others(31): Show | 34 | 166 | 0.2048 | -1862 | c.360 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| IL3RA_chrX_1331785_1387689 | 1369894 | CGTCTCCA others(1854): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp1 others(30): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0005c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0026a0001c0001t0001g0031a0001c0001t0001g0103others(30): Show | 33 | 115 | 0.2870 | -1861 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| MUC22_chr6_31005474_31040402 | 31027084 | GGGCTCTG others(1853): Show |
G | disruptive_inframe_deletion | MODERATE | NA18942.hp1 NA18945.hp1 NA18955.hp1 others(13): Show |
a0008 | a0008c0003 | a0008c0003t0004 | a0008c0003t0004g0005a0008c0003t0004g0145a0008c0003t0004g0146others(3): Show | 16 | 461 | 0.0347 | -1860 | c.166 others(9): Show |
p.Met others(14): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 1901/6019 | 1668/5322 | 556/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| ATP2C2_chr16_84363538_84469187 | 84396340 | ATTTGAGA others(1849): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03195.hp2 |
a0001a0004 | a0001c0041a0004c0027 | a0001c0041t0004a0004c0027t0001 | a0001c0041t0004g0209a0004c0027t0001g0104 | 2 | 432 | 0.0046 | -1856 | c.100 others(16): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CPPED1_chr16_12654799_12808887 | 12696707 | TGCTGGGA others(1847): Show |
T | intron_variant | MODIFIER | HG02602.hp1 HG03704.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0003c0003t0019 | a0001c0001t0005g0175a0003c0003t0019g0214 | 2 | 290 | 0.0069 | -1854 | c.715 others(17): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 3/3 | chr16 | TogoVar |