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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTN6_chr3_1088024_1409217 | 1245302 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02132.hp1 NA18950.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0149a0001c0002t0001g0045a0001c0003t0001g0165others(1): Show | 4 | 232 | 0.0172 | -11 | c.358 others(30): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1300574 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | HG00741.hp2 NA21309.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0021a0001c0003t0001g0031 | 2 | 232 | 0.0086 | -11 | c.761 others(28): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146380784 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03098.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0003t0020a0001c0010t0002 | a0001c0001t0001g0003a0001c0001t0001g0038a0001c0003t0020g0017others(1): Show | 4 | 40 | 0.1000 | -11 | c.97+ others(30): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146486046 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02451.hp2 NA18522.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0018a0001c0013t0003 | a0001c0001t0002g0006a0001c0001t0018g0001a0001c0013t0003g0039 | 3 | 40 | 0.0750 | -11 | c.98- others(30): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146721233 | ATATACTC others(4): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0004a0001c0012 | a0001c0004t0003a0001c0004t0005a0001c0012t0004 | a0001c0004t0003g0035a0001c0004t0003g0036a0001c0004t0005g0004others(1): Show | 4 | 40 | 0.1000 | -11 | c.98- others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146721264 | CTATATAT others(4): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02630.hp1 HG02886.hp2 others(5): Show |
a0001a0003 | a0001c0002a0001c0004a0001c0005others(3): Show | a0001c0002t0001a0001c0004t0003a0001c0004t0005others(4): Show | a0001c0002t0001g0021a0001c0004t0003g0035a0001c0004t0003g0036others(5): Show | 8 | 40 | 0.2000 | -11 | c.98- others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146724561 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02897.hp1 NA19030.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0011others(1): Show | a0001c0001t0001g0038a0001c0002t0001g0008a0001c0003t0011g0023others(1): Show | 4 | 40 | 0.1000 | -11 | c.98- others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147270301 | ATTTGTAT others(4): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02630.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0008a0001c0012a0001c0015others(1): Show | a0001c0008t0001a0001c0012t0004a0001c0015t0001others(1): Show | a0001c0008t0001g0025a0001c0012t0004g0026a0001c0015t0001g0011others(1): Show | 4 | 40 | 0.1000 | -11 | c.134 others(32): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 8/23 | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148150102 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG02451.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(14): Show | a0001c0001t0001g0003a0001c0001t0006g0009a0001c0001t0012g0034others(15): Show | 18 | 40 | 0.4500 | -11 | c.277 others(30): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148284559 | TAGATTAA others(4): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 40 | 0.0250 | -11 | c.347 others(32): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148346773 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02886.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(8): Show | a0001c0001t0002g0006a0001c0001t0006g0009a0001c0002t0001g0008others(8): Show | 11 | 40 | 0.2750 | -11 | c.347 others(32): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP3_chr9_39059710_39293167 | 39179286 | TACACACA others(4): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 4 | 0.2500 | -11 | c.539 others(26): Show |
CNTNAP3 | ENSG00000106714.18 | transcript | ENST00000297668.11 | protein_coding | 4/23 | chr9 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76525624 | GTAGTTTA others(4): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00735.hp2 others(30): Show |
a0002a0004a0007others(2): Show | a0002c0002a0002c0005a0002c0011others(6): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0023others(10): Show | a0002c0002t0002g0012a0002c0002t0002g0043a0002c0002t0002g0102others(30): Show | 33 | 274 | 0.1204 | -11 | c.275 others(30): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124361882 | GCAATGGC others(4): Show |
G | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0036 | 1 | 64 | 0.0156 | -11 | c.382 others(30): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124423652 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0025 | 1 | 64 | 0.0156 | -11 | c.529 others(28): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124582826 | ATTTTATA others(4): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0055 | 1 | 64 | 0.0156 | -11 | c.175 others(32): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124699192 | AGAAGATT others(4): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01891.hp1 HG02145.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0033a0001c0001t0001g0043a0001c0001t0002g0022others(22): Show | 25 | 64 | 0.3906 | -11 | c.207 others(32): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124713217 | CTGTTTCT others(4): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 64 | 0.0156 | -11 | c.207 others(32): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTRL_chr9_121069955_121182610 | 121094103 | GTCCCCGC others(4): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02647.hp2 others(6): Show |
a0002a0013a0015 | a0002c0006a0013c0021a0015c0024 | a0002c0006t0001a0013c0021t0001a0015c0024t0001 | a0002c0006t0001g0023a0002c0006t0001g0024a0002c0006t0001g0027others(6): Show | 9 | 330 | 0.0273 | -11 | c.349 others(26): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 4/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTRL_chr9_121069955_121182610 | 121176605 | CCAGCTCA others(4): Show |
C | intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0098 | 1 | 330 | 0.0030 | -11 | c.695 others(28): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 43/43 | chr9 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43686294 | TGGCTTTG others(4): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01934.hp2 HG01943.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0001t0001g0085others(1): Show | 4 | 384 | 0.0104 | -11 | c.-38 others(30): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691270 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01257.hp2 HG01258.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0023a0001c0001t0001g0033others(13): Show | 17 | 384 | 0.0443 | -11 | c.-39 others(30): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691282 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 384 | 0.0026 | -11 | c.-39 others(30): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691411 | GGAAGAAA others(4): Show |
G | intron_variant | MODIFIER | HG01993.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170a0001c0001t0001g0223 | 2 | 384 | 0.0052 | -11 | c.-39 others(30): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691419 | GAAAAAGA others(4): Show |
G | intron_variant | MODIFIER | HG02015.hp1 HG02602.hp2 NA18964.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0001t0001g0166others(6): Show | 9 | 384 | 0.0234 | -11 | c.-39 others(30): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA3_chr17_42792625_42803704 | 42801511 | ATATATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 310 | 0.0032 | -11 | c.-28 others(22): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2808 | chr17 | TogoVar | ||||||
COA3_chr17_42792625_42803704 | 42801533 | ATATATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 310 | 0.0065 | -11 | c.-28 others(22): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2830 | chr17 | TogoVar | ||||||
COA4_chr11_73867667_73881846 | 73880687 | GAAAAAAA others(4): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0013others(6): Show | 52 | 394 | 0.1320 | -11 | c.-39 others(22): Show |
COA4 | ENSG00000181924.7 | transcript | ENST00000355693.5 | protein_coding | 3842 | chr11 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234385191 | TAAGACAA others(4): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006 | 1 | 406 | 0.0025 | -11 | c.*13 others(22): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 112 | chr1 | TogoVar | ||||||
COA7_chr1_52679449_52703347 | 52682622 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0150a0001c0001t0024g0228 | 2 | 416 | 0.0048 | -11 | c.*50 others(22): Show |
COA7 | ENSG00000162377.6 | transcript | ENST00000371538.5 | protein_coding | 1826 | chr1 | TogoVar | ||||||
COA7_chr1_52679449_52703347 | 52682874 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02735.hp1 HG03239.hp1 HG03704.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0052 | a0001c0001t0001g0145a0002c0002t0002g0017a0002c0002t0002g0080others(4): Show | 9 | 416 | 0.0216 | -11 | c.*48 others(22): Show |
COA7 | ENSG00000162377.6 | transcript | ENST00000371538.5 | protein_coding | 1574 | chr1 | TogoVar | ||||||
COASY_chr17_42557148_42571277 | 42561005 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 394 | 0.0025 | -11 | c.-16 others(22): Show |
COASY | ENSG00000068120.15 | transcript | ENST00000393818.3 | protein_coding | 1142 | chr17 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164789019 | AAACACAC others(4): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0096 | 1 | 212 | 0.0047 | -11 | c.42- others(28): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51018906 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0067 | 1 | 230 | 0.0044 | -11 | c.376 others(30): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51056361 | GTGTCAAA others(4): Show |
G | intron_variant | MODIFIER | HG01934.hp1 NA20129.hp2 |
a0013a0029 | a0013c0017a0029c0042 | a0013c0017t0001a0029c0042t0001 | a0013c0017t0001g0151a0029c0042t0001g0166 | 2 | 230 | 0.0087 | -11 | c.109 others(32): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51081085 | CGCGGGGC others(4): Show |
C | intron_variant | MODIFIER | HG02970.hp2 HG03139.hp1 NA18906.hp1 |
a0001 | a0001c0004a0001c0015 | a0001c0004t0006a0001c0015t0006 | a0001c0004t0006g0003a0001c0004t0006g0081a0001c0015t0006g0022 | 3 | 230 | 0.0130 | -11 | c.109 others(30): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51087168 | ACTCATAC others(4): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0004 | a0004c0025 | a0004c0025t0002 | a0004c0025t0002g0015 | 1 | 230 | 0.0044 | -11 | c.958 others(28): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51243349 | CCAGTGGT others(4): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0184 | 1 | 230 | 0.0044 | -11 | c.42- others(28): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51267100 | GAGGCCAC others(4): Show |
G | intron_variant | MODIFIER | NA18747.hp2 | a0008 | a0008c0013 | a0008c0013t0003 | a0008c0013t0003g0221 | 1 | 230 | 0.0044 | -11 | c.42- others(28): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30882120 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG01346.hp2 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016a0001c0001t0001g0100a0001c0001t0002g0202 | 4 | 478 | 0.0084 | -11 | c.629 others(28): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
COCH_chr14_30869559_30895618 | 30893149 | ATTTTTTT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01358.hp2 HG03942.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0048a0002c0002t0001g0044 | 2 | 478 | 0.0042 | -11 | c.*33 others(22): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 2532 | chr14 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45495145 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0192 | 1 | 342 | 0.0029 | -11 | c.132 others(28): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45524301 | CCCATAGC others(4): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0005 | a0002c0005t0014 | a0002c0005t0014g0206 | 1 | 342 | 0.0029 | -11 | c.215 others(28): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45526076 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 342 | 0.0029 | -11 | c.223 others(30): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45532560 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 342 | 0.0029 | -11 | c.245 others(30): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45533055 | ATGGATGG others(4): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 342 | 0.0029 | -11 | c.245 others(30): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG4_chr16_70475571_70528554 | 70506607 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 354 | 0.0028 | -11 | c.106 others(30): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70517587 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0006 | a0006c0010 | a0006c0010t0004 | a0006c0010t0004g0344 | 1 | 354 | 0.0028 | -11 | c.369 others(24): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 3/18 | chr16 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70525096 | CTCGGCTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 354 | 0.0028 | -11 | c.-15 others(22): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 1543 | chr16 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39684243 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG03471.hp1 HG03579.hp1 |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0010a0007c0009t0010 | a0002c0002t0010g0223a0007c0009t0010g0222 | 2 | 370 | 0.0054 | -11 | c.788 others(28): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |