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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL18A1_chr21_45400165_45518720 | 45500997 | T | TGTGTGTT others(754): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0153 | 1 | 278 | 0.0036 | 761 | c.268 others(780): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(754): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 348 | 0.0029 | 761 | c.51+ others(776): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 418070 | A | ACCTGTTC others(754): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 61 | 0.0164 | 761 | c.739 others(776): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | |||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(754): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0077 |
2 | 4 | 0.5000 | 761 | c.105 others(780): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(754): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 3 | 0.3333 | 761 | c.105 others(780): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(754): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0079 |
2 | 4 | 0.5000 | 761 | c.105 others(780): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(754): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02922.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 |
3 | 5 | 0.6000 | 761 | c.105 others(780): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(754): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 3 | 0.3333 | 761 | c.105 others(780): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(754): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 3 | 0.3333 | 761 | c.105 others(780): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(754): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03490.hp2 HG03492.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0009 others(4): Show |
7 | 9 | 0.7778 | 761 | c.105 others(780): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730863 | C | CAGACAGA others(754): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 195 | 0.0051 | 761 | c.105 others(780): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377813 | C | CCTGGGAA others(754): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 334 | 0.0030 | 761 | c.215 others(778): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378433 | C | CGCGAGCG others(754): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100 | 1 | 373 | 0.0027 | 761 | c.215 others(778): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3331228 | T | TAGTGTCA others(754): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 92 | 0.0109 | 761 | c.259 others(778): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355534 | A | AGGGAGGA others(754): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0047 | 1 | 70 | 0.0143 | 761 | c.757 others(776): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TGTTGGTG others(754): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0032 | a0032c0082 | a0032c0082t0073 | a0032c0082t0073g0014 | 1 | 24 | 0.0417 | 761 | c.366 others(780): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999069 | G | GTATATAC others(754): Show |
downstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0080 | 1 | 168 | 0.0060 | 761 | c.*49 others(772): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4204 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999069 | G | GTATATAC others(754): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 168 | 0.0060 | 761 | c.*49 others(772): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4204 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999069 | G | GTATATAC others(754): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0217 | 1 | 168 | 0.0060 | 761 | c.*49 others(772): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4204 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999085 | A | ATGTATAT others(754): Show |
downstream_gene_variant | MODIFIER | NA19003.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0262 | 1 | 213 | 0.0047 | 761 | c.*49 others(772): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4188 | chr13 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185147 | T | TCCCCTTC others(754): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0017 | a0017c0023 | a0017c0023t0006 | a0017c0023t0006g0135 | 1 | 129 | 0.0078 | 761 | c.193 others(780): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTCT others(754): Show |
intron_variant | MODIFIER | NA18990.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 a0001c0001t0002g0078 |
2 | 271 | 0.0074 | 761 | c.-5+ others(774): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322329 | T | TGGAATAT others(754): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0028 | 1 | 314 | 0.0032 | 761 | c.-27 others(772): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2640 | chr21 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(754): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 13 | 0.0769 | 761 | c.978 others(778): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGTCG others(754): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0221 | 1 | 304 | 0.0033 | 761 | c.-22 others(772): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | |||||||
KRT13_chr17_41495981_41510612 | 41509954 | A | ATCCAGGA others(754): Show |
upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 468 | 0.0021 | 761 | c.-44 others(772): Show |
KRT13 | ENSG00000171401.15 | transcript | ENST00000246635.8 | protein_coding | 4343 | chr17 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471472 | T | TATTTTAT others(754): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 209 | 0.0048 | 761 | c.125 others(778): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(754): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 207 | 0.0048 | 761 | c.624 others(778): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(754): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0088 | 1 | 6 | 0.1667 | 761 | c.368 others(778): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061789 | A | AATTATAT others(754): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 263 | 0.0038 | 761 | c.-31 others(772): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3114 | chr19 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGAGGG others(754): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0171 | 1 | 8 | 0.1250 | 761 | c.250 others(776): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(754): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 8 | 0.1250 | 761 | c.250 others(776): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189475 | A | ATATAAAA others(754): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0058 | 1 | 263 | 0.0038 | 761 | c.-5+ others(776): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NEU1_chr6_31852659_31867821 | 31853826 | C | CGCAGAGG others(754): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 116 | 0.0086 | 761 | c.*58 others(772): Show |
NEU1 | ENSG00000204386.12 | transcript | ENST00000375631.5 | protein_coding | 3832 | chr6 | TogoVar | |||||||
NEU1_chr6_31852659_31867821 | 31853917 | A | ACCCCCCC others(754): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | 761 | c.*58 others(772): Show |
NEU1 | ENSG00000204386.12 | transcript | ENST00000375631.5 | protein_coding | 3741 | chr6 | TogoVar | |||||||
NKAIN2_chr6_123798865_124830640 | 124687570 | T | TTCCATAT others(754): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 36 | 0.0278 | 761 | c.474 others(780): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | chr6 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949107 | G | GCGGCACT others(754): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0094 | 1 | 102 | 0.0098 | 761 | c.360 others(780): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
ODF3_chr11_191761_205258 | 194833 | A | ATGGGGAC others(754): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0008 | a0008c0011 | a0008c0011t0004 | a0008c0011t0004g0001 | 1 | 346 | 0.0029 | 761 | c.-22 others(772): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 1927 | chr11 | TogoVar | |||||||
OR2AG1_chr11_6778020_6796558 | 6791134 | T | TAGAAAAT others(754): Show |
3_prime_UTR_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0002 | 2 | 465 | 0.0043 | 761 | c.*51 others(772): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 2/2 | 5165 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OR6A2_chr11_6786736_6804689 | 6791134 | T | TAGAAAAT others(754): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 457 | 0.0044 | 761 | c.*35 others(772): Show |
OR6A2 | ENSG00000184933.6 | transcript | ENST00000641196.1 | protein_coding | 601 | chr11 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 43095827 | A | ACCCTCCT others(754): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0002a0001c0007a0001c0008others(2): Show | a0001c0002t0022a0001c0007t0004a0001c0008t0001others(2): Show | a0001c0002t0022g0055 a0001c0007t0004g0062 a0001c0008t0001g0060 others(2): Show |
5 | 15 | 0.3333 | 761 | c.88+ others(778): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(754): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0129 | 1 | 19 | 0.0526 | 761 | c.24+ others(778): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(754): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0017 | 1 | 3 | 0.3333 | 761 | c.159 others(778): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341539 | G | GGGGGAGG others(754): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0004 | a0004c0019 | a0004c0019t0001 | a0004c0019t0001g0128 | 1 | 298 | 0.0034 | 761 | c.188 others(780): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77323000 | T | TTATATTA others(754): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 136 | 0.0074 | 761 | c.389 others(782): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918975 | A | AGGAGGAG others(754): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03579.hp1 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0005a0001c0009t0016 | a0001c0003t0005g0163 a0001c0009t0016g0097 |
2 | 298 | 0.0067 | 761 | c.916 others(778): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918986 | G | GAGAAGGA others(754): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02280.hp1 others(3): Show |
a0001a0003 | a0001c0003a0001c0007a0003c0011 | a0001c0003t0010a0001c0003t0028a0001c0007t0010others(1): Show | a0001c0003t0010g0112 a0001c0003t0010g0113 a0001c0003t0028g0009 others(3): Show |
6 | 287 | 0.0209 | 761 | c.916 others(778): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCGB1C1_chr11_188078_199575 | 194833 | A | ATGGGGAC others(754): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 315 | 0.0032 | 761 | c.*38 others(770): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 259 | chr11 | TogoVar | |||||||
SFI1_chr22_31491536_31623588 | 31495982 | T | TGAGCCTG others(754): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0004 | 1 | 317 | 0.0032 | 761 | c.-68 others(770): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 553 | chr22 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(754): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 208 | 0.0048 | 761 | c.115 others(778): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar |