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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP2_chr7_146111801_148425998 | 148022480 | A | AAAAAAGA others(7): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0035 | 1 | 40 | 0.0250 | 14 | c.238 others(35): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148098444 | G | GAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0006a0001c0008t0001 | a0001c0001t0006g0009 a0001c0008t0001g0025 |
2 | 40 | 0.0500 | 14 | c.238 others(35): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148099421 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0017 | 1 | 40 | 0.0250 | 14 | c.238 others(35): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148283255 | A | AGAAAAGA others(7): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03239.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0008t0001 | a0001c0002t0002g0040 a0001c0008t0001g0025 |
2 | 40 | 0.0500 | 14 | c.347 others(35): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 148365744 | A | ATGTATGC others(7): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0005 | a0001c0005t0022 | a0001c0005t0022g0032 | 1 | 40 | 0.0250 | 14 | c.347 others(35): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148365951 | T | TGTATACA others(7): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0005 | a0001c0005t0022 | a0001c0005t0022g0032 | 1 | 40 | 0.0250 | 14 | c.347 others(35): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148366132 | A | ATACCTGT others(7): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0003 a0001c0008t0001g0025 |
2 | 40 | 0.0500 | 14 | c.347 others(35): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148405420 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0001t0007g0020 |
3 | 40 | 0.0750 | 14 | c.371 others(33): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41934100 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01081.hp2 HG02273.hp2 others(3): Show |
a0001a0004a0029 | a0001c0001a0004c0004a0029c0039 | a0001c0001t0002a0001c0001t0003a0004c0004t0005others(1): Show | a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0003g0095 others(3): Show |
6 | 108 | 0.0556 | 14 | c.223 others(33): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 14/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41934122 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0008 | a0008c0009 | a0008c0009t0023 | a0008c0009t0023g0039 | 1 | 108 | 0.0093 | 14 | c.223 others(33): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 14/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 42030750 | C | CAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01952.hp1 HG02135.hp2 others(2): Show |
a0002a0009 | a0002c0002a0002c0010a0002c0024others(1): Show | a0002c0002t0001a0002c0010t0001a0002c0024t0001others(1): Show | a0002c0002t0001g0050 a0002c0010t0001g0057 a0002c0010t0001g0058 others(2): Show |
5 | 108 | 0.0463 | 14 | c.391 others(33): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 3/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 42030813 | G | GGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02135.hp1 HG02486.hp2 others(1): Show |
a0001a0010a0011 | a0001c0001a0001c0047a0010c0013others(1): Show | a0001c0001t0002a0001c0047t0016a0010c0013t0003others(1): Show | a0001c0001t0002g0005 a0001c0047t0016g0015 a0010c0013t0003g0103 others(1): Show |
4 | 108 | 0.0370 | 14 | c.391 others(33): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 3/23 | chr9 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76376907 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA18991.hp2 NA19011.hp1 NA19060.hp1 |
a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0072 a0002c0005t0004g0104 a0002c0005t0004g0215 |
3 | 274 | 0.0110 | 14 | c.390 others(33): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76385547 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0204 | 1 | 274 | 0.0037 | 14 | c.390 others(33): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76397938 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0220 | 1 | 274 | 0.0037 | 14 | c.391 others(33): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76451599 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01257.hp1 HG01981.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0011others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(5): Show | a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0123 others(9): Show |
12 | 274 | 0.0438 | 14 | c.107 others(31): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAATA others(7): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0191 | 1 | 274 | 0.0037 | 14 | c.133 others(33): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0259 | 1 | 274 | 0.0037 | 14 | c.133 others(33): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76470482 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0044 | 1 | 274 | 0.0037 | 14 | c.165 others(33): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76470495 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01258.hp1 others(12): Show |
a0001a0002a0022 | a0001c0001a0001c0018a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0001g0026 a0001c0001t0001g0151 a0001c0001t0003g0065 others(12): Show |
15 | 274 | 0.0547 | 14 | c.165 others(33): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76483231 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG04184.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0120 a0001c0001t0003g0228 |
2 | 274 | 0.0073 | 14 | c.188 others(33): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76496085 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02717.hp1 others(3): Show |
a0001a0007a0013 | a0001c0001a0001c0015a0007c0013others(1): Show | a0001c0001t0004a0001c0015t0004a0007c0013t0022others(1): Show | a0001c0001t0004g0053 a0001c0001t0004g0172 a0001c0001t0004g0191 others(3): Show |
6 | 274 | 0.0219 | 14 | c.223 others(33): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76496107 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01981.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0003a0001c0019t0001 | a0001c0001t0003g0197 a0001c0019t0001g0198 |
2 | 274 | 0.0073 | 14 | c.223 others(33): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 14/23 | chr16 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76511838 | G | GGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG02132.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0174 a0001c0004t0003g0084 a0001c0004t0003g0094 |
3 | 274 | 0.0110 | 14 | c.236 others(33): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124115792 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00423.hp1 NA19000.hp2 NA20129.hp1 |
a0001a0006 | a0001c0001a0001c0002a0006c0006 | a0001c0001t0002a0001c0002t0001a0006c0006t0001 | a0001c0001t0002g0019 a0001c0002t0001g0005 a0006c0006t0001g0013 |
3 | 64 | 0.0469 | 14 | c.82+ others(31): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124431508 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0040 | 1 | 64 | 0.0156 | 14 | c.530 others(31): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124510518 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0019 | a0001c0001t0003g0006 a0001c0002t0019g0051 |
2 | 64 | 0.0313 | 14 | c.132 others(33): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124619908 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 64 | 0.0156 | 14 | c.187 others(35): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124655941 | G | GAAAGAAA others(7): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0045 | 1 | 64 | 0.0156 | 14 | c.207 others(33): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124698375 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 64 | 0.0156 | 14 | c.207 others(35): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43644791 | C | CAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 384 | 0.0026 | 14 | c.264 others(29): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43644799 | C | CAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02080.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0211 a0001c0001t0001g0246 |
3 | 384 | 0.0078 | 14 | c.264 others(29): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43664103 | A | AAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01891.hp1 HG02132.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(14): Show |
17 | 384 | 0.0443 | 14 | c.-38 others(33): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691329 | G | GAAAGAAA others(7): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0290 | 1 | 384 | 0.0026 | 14 | c.-39 others(33): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691415 | G | GGAAGGAA others(7): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0335 | 1 | 384 | 0.0026 | 14 | c.-39 others(33): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43700591 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0365 | 1 | 384 | 0.0026 | 14 | c.-39 others(33): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43710369 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0365 | 1 | 384 | 0.0026 | 14 | c.-39 others(33): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234370410 | A | ACCTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 406 | 0.0025 | 14 | c.-30 others(25): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 3045 | chr1 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234370412 | C | CTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(81): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0119 a0001c0001t0001g0120 others(40): Show |
84 | 406 | 0.2069 | 14 | c.-30 others(25): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 3043 | chr1 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234377059 | C | CGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03017.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0056 a0002c0002t0001g0159 |
2 | 406 | 0.0049 | 14 | c.372 others(31): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234377133 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 2 | 406 | 0.0049 | 14 | c.372 others(31): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234383032 | A | AGAAGGAA others(7): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02257.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0066 |
4 | 406 | 0.0099 | 14 | c.373 others(29): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164805323 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0179 | 1 | 212 | 0.0047 | 14 | c.41+ others(31): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164805327 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0022 | a0022c0013 | a0022c0013t0002 | a0022c0013t0002g0116 | 1 | 212 | 0.0047 | 14 | c.41+ others(31): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164805337 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0173 | 1 | 212 | 0.0047 | 14 | c.41+ others(31): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164805337 | C | CTCTCTAT others(7): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0002t0004 | a0001c0001t0027g0188 a0001c0002t0004g0190 |
2 | 212 | 0.0094 | 14 | c.41+ others(31): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164818773 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02109.hp1 HG02451.hp1 others(1): Show |
a0001a0004 | a0001c0002a0004c0032 | a0001c0002t0002a0001c0002t0058a0001c0002t0060others(1): Show | a0001c0002t0002g0165 a0001c0002t0058g0164 a0001c0002t0060g0162 others(1): Show |
4 | 212 | 0.0189 | 14 | c.41+ others(31): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51018891 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0083 | 1 | 230 | 0.0044 | 14 | c.376 others(33): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51061946 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03041.hp2 NA19007.hp1 others(1): Show |
a0001 | a0001c0006a0001c0010a0001c0033others(1): Show | a0001c0006t0003a0001c0010t0002a0001c0033t0001others(1): Show | a0001c0006t0003g0038 a0001c0010t0002g0073 a0001c0033t0001g0064 others(1): Show |
4 | 230 | 0.0174 | 14 | c.109 others(35): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51061954 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0009 | a0009c0017 | a0009c0017t0001 | a0009c0017t0001g0151 | 1 | 230 | 0.0044 | 14 | c.109 others(35): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar |