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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(471): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0037 | a0002c0037t0001 | a0002c0037t0001g0140 | 1 | 56 | 0.0179 | 478 | c.*11 others(499): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(471): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0094 | 1 | 56 | 0.0179 | 478 | c.*11 others(499): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(471): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0137 | 1 | 56 | 0.0179 | 478 | c.*11 others(499): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(471): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 56 | 0.0179 | 478 | c.*11 others(499): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514241 | T | TCCCTCCC others(471): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0146 | 1 | 251 | 0.0040 | 478 | c.-84 others(495): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(471): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0026others(36): Show | a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0020g0104 others(37): Show |
40 | 65 | 0.6154 | 478 | c.946 others(495): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(471): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0162 | a0001c0002t0162g0162 | 1 | 26 | 0.0385 | 478 | c.946 others(495): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(471): Show |
intron_variant | MODIFIER | NA19055.hp1 NA19057.hp1 |
a0001 | a0001c0003 | a0001c0003t0017a0001c0003t0070 | a0001c0003t0017g0182 a0001c0003t0070g0038 |
2 | 27 | 0.0741 | 478 | c.946 others(495): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178757984 | G | GATATATA others(471): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 189 | 0.0053 | 478 | c.-67 others(497): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174505 | T | TATATATA others(471): Show |
intron_variant | MODIFIER | NA18948.hp2 NA18978.hp2 NA18989.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0211 a0002c0002t0002g0215 a0002c0002t0002g0237 others(1): Show |
4 | 160 | 0.0250 | 478 | c.126 others(495): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LRP1B_chr2_140226423_142136016 | 141095338 | T | TGATAGGT others(471): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02922.hp2 HG03225.hp2 |
a0001 | a0001c0008a0001c0018a0001c0019 | a0001c0008t0001a0001c0018t0002a0001c0019t0001 | a0001c0008t0001g0008 a0001c0018t0002g0013 a0001c0019t0001g0016 |
3 | 21 | 0.1429 | 478 | c.101 others(499): Show |
LRP1B | ENSG00000168702.18 | transcript | ENST00000389484.8 | protein_coding | 7/90 | chr2 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(471): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0004 | a0001c0004t0066 | a0001c0004t0066g0273 | 1 | 6 | 0.1667 | 478 | c.368 others(495): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LTBP2_chr14_74493183_74617237 | 74564165 | A | ATATATAT others(471): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0029 | a0001c0029t0010 | a0001c0029t0010g0125 | 1 | 251 | 0.0040 | 478 | c.831 others(495): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 3/35 | chr14 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432644 | G | GGAGGAGA others(471): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0213 | 1 | 62 | 0.0161 | 478 | c.225 others(495): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432661 | A | AGAGAGAG others(471): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 | 1 | 243 | 0.0041 | 478 | c.225 others(495): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99588815 | A | ACATATAT others(471): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0169 | 1 | 316 | 0.0032 | 478 | c.394 others(493): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99588899 | A | ACATATAT others(471): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0157 | 1 | 261 | 0.0038 | 478 | c.394 others(493): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690669 | T | TATATATA others(471): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18965.hp2 NA19088.hp2 |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0071 a0005c0005t0002g0072 a0005c0005t0002g0073 |
3 | 238 | 0.0126 | 478 | c.358 others(495): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843550 | G | GAGGAAGG others(471): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0025 | 1 | 204 | 0.0049 | 478 | c.163 others(495): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843574 | G | GAGGAAGG others(471): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 183 | 0.0055 | 478 | c.163 others(495): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843574 | G | GAGGGAGG others(471): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 a0001c0001t0002g0039 |
2 | 184 | 0.0109 | 478 | c.163 others(495): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843590 | A | AAGGGAGG others(471): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 195 | 0.0051 | 478 | c.163 others(495): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136074427 | C | CGGGCGAC others(471): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0029a0001c0003t0014a0001c0007t0049others(1): Show | a0001c0001t0029g0247 a0001c0003t0014g0252 a0001c0007t0049g0246 others(1): Show |
4 | 304 | 0.0132 | 478 | c.-60 others(497): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136074427 | C | CGGGCGAC others(471): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0090 | 1 | 301 | 0.0033 | 478 | c.-60 others(497): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136074448 | G | GTCTCAAA others(471): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02717.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0004a0001c0008a0001c0017others(1): Show | a0001c0004t0011a0001c0008t0020a0001c0017t0047others(1): Show | a0001c0004t0011g0248 a0001c0008t0020g0048 a0001c0017t0047g0249 others(2): Show |
5 | 346 | 0.0145 | 478 | c.-60 others(497): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136074452 | C | CAAAAAAA others(471): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0021 | 1 | 59 | 0.0169 | 478 | c.-60 others(497): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136074452 | C | CAAAAAAA others(471): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0240 | 1 | 59 | 0.0169 | 478 | c.-60 others(497): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136074452 | C | CAAAAAAA others(471): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0272 | 1 | 59 | 0.0169 | 478 | c.-60 others(497): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136074452 | C | CAAAAAAA others(471): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(81): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(41): Show | a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0280 others(80): Show |
84 | 142 | 0.5915 | 478 | c.-60 others(497): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136074452 | C | CAAAAAAA others(471): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01256.hp2 HG03491.hp2 |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0003a0001c0003t0007a0001c0005t0002 | a0001c0002t0003g0169 a0001c0003t0007g0177 a0001c0005t0002g0210 |
3 | 61 | 0.0492 | 478 | c.-60 others(497): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
NACC2_chr9_136001537_136100289 | 136074452 | C | CAAAAAAA others(471): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0172 | 1 | 59 | 0.0169 | 478 | c.-60 others(497): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124438778 | C | CAGAGAGA others(471): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0157 | 1 | 40 | 0.0250 | 478 | c.816 others(493): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79494279 | C | CGCCGGGG others(471): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02717.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0005a0001c0028 | a0001c0005t0005a0001c0005t0011a0001c0028t0007 | a0001c0005t0005g0055 a0001c0005t0011g0131 a0001c0005t0011g0137 others(4): Show |
7 | 152 | 0.0461 | 478 | c.278 others(497): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8678091 | T | TTCCATCC others(471): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01167.hp2 HG01169.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0037 | a0002c0002t0007g0004 a0002c0002t0007g0048 a0002c0002t0007g0157 others(6): Show |
9 | 61 | 0.1475 | 478 | c.*47 others(487): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8678091 | T | TTCCATCC others(471): Show |
3_prime_UTR_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0002 | a0002c0002t0099 | a0002c0002t0099g0218 | 1 | 53 | 0.0189 | 478 | c.*47 others(487): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8678091 | T | TTCCATCC others(471): Show |
3_prime_UTR_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0101 | a0002c0002t0101g0042 | 1 | 53 | 0.0189 | 478 | c.*47 others(487): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8678091 | T | TTCCATCC others(471): Show |
3_prime_UTR_variant | MODIFIER | HG03579.hp1 NA19001.hp2 NA19005.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0039a0002c0002t0040a0002c0002t0115 | a0002c0002t0039g0156 a0002c0002t0039g0348 a0002c0002t0040g0207 others(2): Show |
5 | 57 | 0.0877 | 478 | c.*47 others(487): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NHLRC4_chr16_562005_574495 | 571084 | T | TGTGTGTG others(471): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 478 | c.*26 others(489): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1590 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571108 | T | TGTGTGTG others(471): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01243.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 353 | 0.0113 | 478 | c.*26 others(489): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(471): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 157 | 0.0064 | 478 | c.91+ others(491): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(471): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0001 | 1 | 122 | 0.0082 | 478 | c.*70 others(489): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(471): Show |
downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 122 | 0.0082 | 478 | c.*70 others(489): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(471): Show |
downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 122 | 0.0082 | 478 | c.*70 others(489): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(471): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0011 | 1 | 122 | 0.0082 | 478 | c.*70 others(489): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(471): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0001 | 1 | 122 | 0.0082 | 478 | c.*70 others(489): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(471): Show |
downstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 122 | 0.0082 | 478 | c.*70 others(489): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721656 | A | ATATATGT others(471): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 278 | 0.0036 | 478 | c.*70 others(489): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3176 | chr20 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45910104 | C | CCACCCAC others(471): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 226 | 0.0044 | 478 | c.471 others(493): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311786 | C | CCCCTCAC others(471): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0259 | 1 | 313 | 0.0032 | 478 | c.269 others(497): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101311897 | C | CCACCCCA others(471): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0033 | 1 | 325 | 0.0031 | 478 | c.269 others(497): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar |