| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(710): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0016 | 1 | 119 | 0.0084 | 717 | c.*51 others(728): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
| VPS53_chr17_503668_719839 | 646603 | C | CGGACTGG others(710): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0005 | a0001c0005t0077 | a0001c0005t0077g0092 | 1 | 226 | 0.0044 | 717 | c.608 others(734): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 7/21 | chr17 | TogoVar | |||||||
| ZNF516_chr18_76352682_76500242 | 76401788 | C | CCCCCGCG others(710): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0205 | 1 | 37 | 0.0270 | 717 | c.181 others(738): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(710): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0198 | 1 | 9 | 0.1111 | 717 | c.4-1 others(730): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(711): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0219 | 1 | 158 | 0.0063 | 718 | c.564 others(733): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
| C7orf50_chr7_992006_1143247 | 1127949 | C | CGTCTGGA others(711): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 233 | 0.0043 | 718 | c.-1- others(731): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
| CCDC6_chr10_59783747_59911556 | 59882544 | C | CGGGGAGA others(711): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0031 | 1 | 185 | 0.0054 | 718 | c.303 others(737): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
| CHTF18_chr16_783620_803074 | 795584 | G | GCCCCCCC others(711): Show |
intron_variant | MODIFIER | HG02027.hp1 HG03491.hp2 HG03492.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0036 a0003c0003t0001g0019 a0003c0003t0001g0076 |
6 | 225 | 0.0267 | 718 | c.217 others(733): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| COL5A1_chr9_134636803_134849843 | 134729816 | A | ATGCGGGC others(711): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0186 | 1 | 178 | 0.0056 | 718 | c.925 others(733): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| DNAJB6_chr7_157332004_157422439 | 157369638 | T | TTTCTTCA others(711): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0129 | 1 | 356 | 0.0028 | 718 | c.346 others(735): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| DPEP1_chr16_89608642_89643433 | 89619512 | T | TCCCTGCC others(711): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 183 | 0.0055 | 718 | c.-10 others(737): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| DPEP1_chr16_89608642_89643433 | 89619512 | T | TCCCTGCC others(711): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 183 | 0.0055 | 718 | c.-10 others(737): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| DPEP1_chr16_89608642_89643433 | 89619557 | T | TCCCCTCC others(711): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 203 | 0.0049 | 718 | c.-10 others(737): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ELMO1_chr7_36847906_37453864 | 36957315 | C | CTGCTCCT others(711): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02896.hp2 HG02922.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0016a0001c0002t0009 | a0001c0001t0003g0072 a0001c0001t0016g0060 a0001c0002t0009g0069 |
3 | 79 | 0.0380 | 718 | c.143 others(739): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
| ELMO1_chr7_36847906_37453864 | 36957315 | C | CTGCTCCT others(711): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 77 | 0.0130 | 718 | c.143 others(739): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
| ELMO1_chr7_36847906_37453864 | 36957315 | C | CTGCTCCT others(711): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02818.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0006others(1): Show | a0001c0001t0001g0090 a0001c0002t0003g0013 a0001c0002t0006g0021 others(1): Show |
4 | 80 | 0.0500 | 718 | c.143 others(739): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
| ELMO1_chr7_36847906_37453864 | 36957315 | C | CTGCTCCT others(711): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0007 | a0001c0001t0003g0065 a0001c0002t0007g0001 |
2 | 78 | 0.0256 | 718 | c.143 others(739): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
| ELMO1_chr7_36847906_37453864 | 36957315 | C | CTGCTCCT others(711): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18906.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0002t0007 | a0001c0001t0002g0002 a0001c0001t0015g0061 a0001c0002t0007g0064 |
3 | 79 | 0.0380 | 718 | c.143 others(739): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
| ELMO1_chr7_36847906_37453864 | 36957315 | C | CTGCTCCT others(711): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 77 | 0.0130 | 718 | c.143 others(739): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
| ELMO1_chr7_36847906_37453864 | 36957383 | G | GGTGCCTG others(711): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02896.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0017a0001c0002t0006 | a0001c0001t0013g0078 a0001c0001t0017g0012 a0001c0002t0006g0014 |
3 | 79 | 0.0380 | 718 | c.143 others(739): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | |||||||
| FLT3_chr13_27998274_28105576 | 27998945 | T | TTATATGC others(711): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0104 | 1 | 223 | 0.0045 | 718 | c.*51 others(729): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4328 | chr13 | TogoVar | |||||||
| FTCD_chr21_46131779_46160579 | 46144472 | C | CTCCCCCC others(711): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01346.hp2 others(1): Show |
a0001a0002a0004 | a0001c0002a0002c0005a0004c0007 | a0001c0002t0001a0002c0005t0001a0004c0007t0007 | a0001c0002t0001g0085 a0002c0005t0001g0192 a0004c0007t0007g0017 others(1): Show |
4 | 217 | 0.0184 | 718 | c.126 others(735): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132241351 | C | CCTTCCCG others(711): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03453.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0051 a0001c0001t0001g0143 a0001c0001t0011g0050 |
3 | 178 | 0.0169 | 718 | c.107 others(737): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132241351 | C | CCTTCCCG others(711): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0108 | 1 | 176 | 0.0057 | 718 | c.107 others(737): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132241695 | C | CACACACG others(711): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 178 | 0.0056 | 718 | c.107 others(737): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| GNG13_chr16_793041_805734 | 795584 | G | GCCCCCCC others(711): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 HG03491.hp1 HG03492.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0040 |
6 | 221 | 0.0271 | 718 | c.*31 others(729): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2456 | chr16 | TogoVar | |||||||
| GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(711): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 95 | 0.0105 | 718 | c.-97 others(735): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(711): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 95 | 0.0105 | 718 | c.-97 others(735): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(711): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 95 | 0.0105 | 718 | c.-97 others(735): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(711): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0052 | 1 | 13 | 0.0769 | 718 | c.978 others(735): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAAA others(711): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0108 | 1 | 233 | 0.0043 | 718 | c.127 others(737): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
| KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(711): Show |
upstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 77 | 0.0130 | 718 | c.-27 others(729): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
| LHPP_chr10_124456823_124619141 | 124610989 | C | CGGGTGAG others(711): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 37 | 0.0270 | 718 | c.717 others(735): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(711): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0057 | a0057c0061 | a0057c0061t0003 | a0057c0061t0003g0101 | 1 | 32 | 0.0313 | 718 | c.218 others(733): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
| MOGAT3_chr7_101190007_101206036 | 101191958 | G | GGGAGGCC others(711): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0036 | 2 | 296 | 0.0068 | 718 | c.*39 others(729): Show |
MOGAT3 | ENSG00000106384.12 | transcript | ENST00000223114.9 | protein_coding | 3048 | chr7 | TogoVar | |||||||
| MOGAT3_chr7_101190007_101206036 | 101191958 | G | GGGAGGCC others(711): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 295 | 0.0034 | 718 | c.*39 others(729): Show |
MOGAT3 | ENSG00000106384.12 | transcript | ENST00000223114.9 | protein_coding | 3048 | chr7 | TogoVar | |||||||
| MOGAT3_chr7_101190007_101206036 | 101191958 | G | GGGAGGCC others(711): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(88): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0050 others(21): Show |
91 | 385 | 0.2364 | 718 | c.*39 others(729): Show |
MOGAT3 | ENSG00000106384.12 | transcript | ENST00000223114.9 | protein_coding | 3048 | chr7 | TogoVar | |||||||
| MOGAT3_chr7_101190007_101206036 | 101191958 | G | GGGAGGCC others(711): Show |
downstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 295 | 0.0034 | 718 | c.*39 others(729): Show |
MOGAT3 | ENSG00000106384.12 | transcript | ENST00000223114.9 | protein_coding | 3048 | chr7 | TogoVar | |||||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(711): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0130 | 1 | 4 | 0.2500 | 718 | c.114 others(737): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(711): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 59 | 0.0169 | 718 | c.241 others(737): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
| MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(711): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 59 | 0.0169 | 718 | c.241 others(737): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
| MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(711): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 242 | 0.0041 | 718 | c.-5+ others(733): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136535645 | T | TCCCGGGG others(711): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0153 | 1 | 124 | 0.0081 | 718 | c.140 others(735): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136535833 | A | AGGGGGGA others(711): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0308 | 1 | 285 | 0.0035 | 718 | c.140 others(735): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NT5C1A_chr1_39646229_39677107 | 39664492 | T | TCCCCTCC others(711): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0184 | 1 | 206 | 0.0049 | 718 | c.433 others(735): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
| OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(711): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0008 | a0001c0008t0015 | a0001c0008t0015g0145 | 1 | 2 | 0.5000 | 718 | c.162 others(737): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
| PCDH15_chr10_53797771_54806231 | 54332298 | A | ATATTATT others(711): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 93 | 0.0108 | 718 | c.595 others(735): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 6/37 | chr10 | TogoVar | |||||||
| PCDH15_chr10_53816099_54806231 | 54332298 | A | ATATTATT others(711): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 86 | 0.0116 | 718 | c.595 others(735): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 6/32 | chr10 | TogoVar | |||||||
| RFX2_chr19_5988164_6115500 | 6070231 | G | GATGGGAT others(711): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 a0001c0001t0001g0295 |
2 | 141 | 0.0142 | 718 | c.-8- others(735): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
| RFX2_chr19_5988164_6115500 | 6070231 | G | GATGGGAT others(711): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0102 |
2 | 141 | 0.0142 | 718 | c.-8- others(735): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar |