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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP5_chr2_124020287_124926219 | 124570556 | T | TTGTTG | intron_variant | MODIFIER | HG03098.hp1 HG03486.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0002t0001g0016a0001c0002t0001g0062 | 3 | 64 | 0.0469 | 5 | c.175 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124571527 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01261.hp2 HG02293.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0043others(8): Show | 11 | 64 | 0.1719 | 5 | c.175 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124593127 | A | ATTTAT | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01261.hp1 others(17): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0026others(17): Show | 20 | 64 | 0.3125 | 5 | c.175 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124686990 | G | GTACAC | intron_variant | MODIFIER | HG02451.hp1 HG03098.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0007a0001c0002t0001g0046a0001c0002t0004g0044others(1): Show | 4 | 64 | 0.0625 | 5 | c.207 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | chr2 | TogoVar | ||||||
CNTRL_chr9_121069955_121182610 | 121104694 | A | ATTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01952.hp1 others(23): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004a0003c0003t0001g0116a0003c0003t0001g0253others(21): Show | 26 | 330 | 0.0788 | 5 | c.809 others(22): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTRL_chr9_121069955_121182610 | 121151384 | C | CTTTTT | intron_variant | MODIFIER | HG01175.hp1 HG02486.hp1 HG02559.hp2 others(13): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0004a0005c0008others(1): Show | a0002c0002t0001a0002c0002t0004a0003c0004t0002others(2): Show | a0002c0002t0001g0001a0002c0002t0001g0038a0002c0002t0001g0043others(12): Show | 16 | 330 | 0.0485 | 5 | c.396 others(22): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTROB_chr17_7927206_7954920 | 7938001 | G | GTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01243.hp1 others(10): Show |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0009 | a0001c0001t0001a0001c0001t0006a0003c0004t0002others(1): Show | a0001c0001t0001g0162a0001c0001t0001g0186a0001c0001t0006g0026others(8): Show | 13 | 402 | 0.0323 | 5 | c.927 others(20): Show |
CNTROB | ENSG00000170037.14 | transcript | ENST00000563694.6 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
COA1_chr7_43634257_43734523 | 43656820 | A | AAAAAG | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG03486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0269a0001c0001t0001g0270a0001c0001t0001g0274others(4): Show | 7 | 384 | 0.0182 | 5 | c.-38 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43710375 | A | ATATAT | intron_variant | MODIFIER | HG02015.hp1 HG02027.hp1 HG02074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143a0001c0001t0001g0172a0001c0001t0001g0173others(2): Show | 5 | 384 | 0.0130 | 5 | c.-39 others(24): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43733997 | C | CATAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(266): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(262): Show | 269 | 384 | 0.7005 | 5 | c.-46 others(16): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4475 | chr7 | TogoVar | ||||||
COA7_chr1_52679449_52703347 | 52682622 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012 | a0001c0001t0009g0010a0001c0001t0009g0075a0001c0001t0009g0076others(2): Show | 6 | 416 | 0.0144 | 5 | c.*50 others(16): Show |
COA7 | ENSG00000162377.6 | transcript | ENST00000371538.5 | protein_coding | 1826 | chr1 | TogoVar | ||||||
COA7_chr1_52679449_52703347 | 52682874 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00741.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0002a0002c0002t0025others(1): Show | a0001c0001t0005g0015a0001c0001t0005g0224a0002c0002t0002g0004others(11): Show | 20 | 416 | 0.0481 | 5 | c.*48 others(16): Show |
COA7 | ENSG00000162377.6 | transcript | ENST00000371538.5 | protein_coding | 1574 | chr1 | TogoVar | ||||||
COA8_chr14_103557960_103595896 | 103582737 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01074.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0195a0001c0003t0001g0031a0001c0003t0001g0036others(9): Show | 12 | 382 | 0.0314 | 5 | c.386 others(22): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
COBLL1_chr2_164675188_164846823 | 164696196 | A | AAAAAT | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00733.hp1 others(103): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0010others(17): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(50): Show | a0001c0001t0002g0021a0001c0001t0002g0022a0001c0001t0002g0074others(101): Show | 106 | 212 | 0.5000 | 5 | c.155 others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 11/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164702575 | A | AAAAAT | intron_variant | MODIFIER | HG01261.hp1 HG02615.hp1 HG02922.hp2 others(2): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0027 | a0001c0001t0014a0001c0002t0010a0001c0002t0046others(1): Show | a0001c0001t0014g0019a0001c0002t0010g0017a0001c0002t0010g0018others(2): Show | 5 | 212 | 0.0236 | 5 | c.122 others(24): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 9/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164702575 | A | AATAAT | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02559.hp2 others(2): Show |
a0001a0004 | a0001c0010a0004c0005 | a0001c0010t0048a0004c0005t0009 | a0001c0010t0048g0185a0004c0005t0009g0197a0004c0005t0009g0198others(2): Show | 5 | 212 | 0.0236 | 5 | c.122 others(24): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 9/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164791347 | T | TAAACA | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01106.hp1 others(45): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(27): Show | a0001c0001t0001g0015a0001c0001t0001g0045a0001c0001t0001g0061others(45): Show | 48 | 212 | 0.2264 | 5 | c.42- others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164799019 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG02055.hp1 HG02109.hp1 others(9): Show |
a0001a0004a0009 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0014a0001c0001t0033a0001c0002t0002others(8): Show | a0001c0001t0014g0019a0001c0001t0033g0052a0001c0002t0002g0165others(9): Show | 12 | 212 | 0.0566 | 5 | c.41+ others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164803564 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01106.hp2 others(27): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0012others(7): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(16): Show | a0001c0001t0001g0015a0001c0001t0001g0061a0001c0001t0001g0063others(27): Show | 30 | 212 | 0.1415 | 5 | c.41+ others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164803566 | A | AAAAAT | intron_variant | MODIFIER | HG01175.hp1 HG02055.hp1 HG02622.hp1 others(5): Show |
a0001a0020 | a0001c0001a0001c0002a0020c0026 | a0001c0001t0001a0001c0001t0033a0001c0001t0043others(4): Show | a0001c0001t0001g0045a0001c0001t0033g0052a0001c0001t0043g0046others(5): Show | 8 | 212 | 0.0377 | 5 | c.41+ others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164803582 | T | TAAATA | intron_variant | MODIFIER | HG00735.hp2 HG03710.hp1 NA18946.hp2 others(3): Show |
a0001a0005a0015 | a0001c0002a0005c0006a0005c0029others(1): Show | a0001c0002t0001a0005c0006t0001a0005c0029t0016others(1): Show | a0001c0002t0001g0202a0005c0006t0001g0002a0005c0006t0001g0204others(2): Show | 6 | 212 | 0.0283 | 5 | c.41+ others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164837691 | A | AAATAT | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00735.hp2 others(55): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0010others(12): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(31): Show | a0001c0001t0002g0074a0001c0001t0005g0193a0001c0001t0005g0194others(54): Show | 58 | 212 | 0.2736 | 5 | c.41+ others(20): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51018891 | C | CAAAAA | intron_variant | MODIFIER | HG01517.hp1 HG01517.hp2 NA18906.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0015a0002c0007others(3): Show | a0001c0002t0002a0001c0015t0006a0002c0007t0001others(3): Show | a0001c0002t0002g0159a0001c0015t0006g0022a0002c0007t0001g0174others(6): Show | 9 | 230 | 0.0391 | 5 | c.376 others(24): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51018905 | A | AAAAAT | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01081.hp1 others(4): Show |
a0002a0005a0007 | a0002c0003a0002c0007a0005c0006others(1): Show | a0002c0003t0001a0002c0007t0001a0005c0006t0002others(1): Show | a0002c0003t0001g0091a0002c0003t0001g0092a0002c0003t0001g0100others(4): Show | 7 | 230 | 0.0304 | 5 | c.376 others(24): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51080911 | T | TGAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show |
a0001a0002a0003others(28): Show | a0001c0002a0001c0004a0001c0015others(56): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0003others(83): Show | a0001c0002t0002g0027a0001c0002t0002g0071a0001c0002t0002g0122others(181): Show | 184 | 230 | 0.8000 | 5 | c.109 others(24): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51098224 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01258.hp2 HG01261.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0015a0002c0003others(3): Show | a0001c0004t0001a0001c0015t0001a0002c0003t0001others(3): Show | a0001c0004t0001g0010a0001c0015t0001g0181a0002c0003t0001g0001others(6): Show | 9 | 230 | 0.0391 | 5 | c.958 others(24): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51217340 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01261.hp2 HG01433.hp2 others(7): Show |
a0002a0003a0004others(4): Show | a0002c0003a0003c0001a0004c0010others(4): Show | a0002c0003t0001a0003c0001t0001a0004c0010t0005others(5): Show | a0002c0003t0001g0067a0003c0001t0001g0009a0003c0001t0001g0025others(7): Show | 10 | 230 | 0.0435 | 5 | c.245 others(22): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51300140 | C | CTGTTT | intron_variant | MODIFIER | HG02074.hp1 HG03654.hp1 NA18982.hp2 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0019a0003c0001others(4): Show | a0001c0002t0002a0002c0019t0002a0003c0001t0001others(4): Show | a0001c0002t0002g0071a0002c0019t0002g0120a0003c0001t0001g0009others(4): Show | 7 | 230 | 0.0304 | 5 | c.41+ others(22): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COG2_chr1_230637481_230698982 | 230640907 | A | AAAAAT | upstream_gene_variant | MODIFIER | HG01934.hp1 NA18988.hp1 NA19006.hp2 others(2): Show |
a0001a0002a0003 | a0001c0002a0002c0005a0003c0008 | a0001c0002t0003a0001c0002t0004a0002c0005t0001others(1): Show | a0001c0002t0003g0240a0001c0002t0004g0040a0001c0002t0004g0153others(2): Show | 5 | 406 | 0.0123 | 5 | c.-17 others(16): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 1573 | chr1 | TogoVar | ||||||
COG2_chr1_230637481_230698982 | 230685017 | C | CACATT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(58): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0009a0001c0001t0001g0024a0001c0001t0001g0025others(44): Show | 61 | 406 | 0.1503 | 5 | c.122 others(20): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45467597 | A | AAAAAG | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp2 others(34): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0005others(1): Show | a0001c0002t0001a0002c0003t0002a0002c0005t0012others(2): Show | a0001c0002t0001g0229a0001c0002t0001g0230a0002c0003t0002g0007others(33): Show | 37 | 342 | 0.1082 | 5 | c.174 others(22): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45486338 | A | AGGGAG | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0007 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0056others(6): Show | 9 | 342 | 0.0263 | 5 | c.844 others(20): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45486339 | C | CGGAGA | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01361.hp1 others(13): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0241a0001c0002t0001g0256a0001c0002t0001g0262others(13): Show | 16 | 342 | 0.0468 | 5 | c.844 others(20): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45489262 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(35): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0005a0002c0003t0002g0006a0002c0003t0002g0144others(33): Show | 38 | 342 | 0.1111 | 5 | c.925 others(22): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45508068 | T | TAAAAA | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG02965.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0014a0002c0005others(1): Show | a0001c0001t0001a0001c0014t0001a0002c0005t0003others(1): Show | a0001c0001t0001g0078a0001c0001t0001g0082a0001c0001t0001g0094others(6): Show | 9 | 342 | 0.0263 | 5 | c.159 others(24): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45526076 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(75): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0001g0043a0001c0001t0001g0047a0001c0001t0001g0052others(75): Show | 78 | 342 | 0.2281 | 5 | c.223 others(24): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG4_chr16_70475571_70528554 | 70506593 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00735.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0047a0001c0001t0001g0052a0001c0001t0001g0059others(9): Show | 12 | 354 | 0.0339 | 5 | c.106 others(24): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39651677 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0003a0001c0001t0005g0009a0001c0001t0005g0010others(2): Show | 6 | 370 | 0.0162 | 5 | c.-40 others(16): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 3984 | chr13 | TogoVar | ||||||
COG7_chr16_23383493_23458189 | 23449380 | T | TTAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00741.hp1 others(21): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0238a0001c0001t0001g0240others(21): Show | 24 | 272 | 0.0882 | 5 | c.170 others(22): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 1/16 | chr16 | TogoVar | ||||||
COG8_chr16_69321428_69344564 | 69323943 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02723.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0010a0001c0002t0017 | a0001c0001t0006g0030a0001c0001t0010g0018a0001c0002t0017g0119 | 5 | 360 | 0.0139 | 5 | c.*52 others(16): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 2484 | chr16 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102967227 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG01243.hp2 others(20): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0005a0001c0009others(7): Show | a0001c0004t0004a0001c0005t0004a0001c0009t0007others(7): Show | a0001c0004t0004g0018a0001c0005t0004g0015a0001c0009t0007g0055others(20): Show | 23 | 184 | 0.1250 | 5 | c.286 others(24): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 37/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102971026 | C | CAAACA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(79): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0016a0001c0031others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(15): Show | a0001c0002t0001g0069a0001c0002t0002g0155a0001c0002t0003g0019others(79): Show | 82 | 184 | 0.4457 | 5 | c.280 others(22): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 36/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102976289 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00735.hp1 others(27): Show |
a0002a0003a0012others(3): Show | a0002c0001a0003c0003a0012c0035others(3): Show | a0002c0001t0001a0003c0003t0002a0012c0035t0001others(3): Show | a0002c0001t0001g0116a0002c0001t0001g0121a0002c0001t0001g0122others(27): Show | 30 | 184 | 0.1630 | 5 | c.275 others(24): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 35/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103006526 | A | ATTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01358.hp1 HG02055.hp1 others(7): Show |
a0001a0002a0003 | a0001c0006a0002c0001a0003c0003others(1): Show | a0001c0006t0010a0002c0001t0001a0003c0003t0002others(1): Show | a0001c0006t0010g0180a0002c0001t0001g0116a0002c0001t0001g0117others(7): Show | 10 | 184 | 0.0544 | 5 | c.168 others(22): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 15/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103022013 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00735.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0005a0002c0024a0003c0023others(3): Show | a0001c0005t0005a0001c0005t0012a0002c0024t0002others(4): Show | a0001c0005t0005g0070a0001c0005t0005g0071a0001c0005t0005g0072others(11): Show | 14 | 184 | 0.0761 | 5 | c.124 others(22): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 8/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103023370 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02257.hp2 others(4): Show |
a0004a0005 | a0004c0012a0005c0010 | a0004c0012t0003a0005c0010t0001 | a0004c0012t0003g0010a0004c0012t0003g0011a0004c0012t0003g0012others(4): Show | 7 | 184 | 0.0380 | 5 | c.991 others(20): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 7/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103028022 | T | TTTTTG | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02257.hp2 others(15): Show |
a0001a0003a0004others(2): Show | a0001c0008a0001c0009a0003c0026others(3): Show | a0001c0008t0006a0001c0009t0001a0001c0009t0007others(4): Show | a0001c0008t0006g0002a0001c0008t0006g0003a0001c0008t0006g0004others(15): Show | 18 | 184 | 0.0978 | 5 | c.781 others(22): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 5/66 | chr1 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75140655 | C | CAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(5): Show |
a0006a0007a0008others(2): Show | a0006c0007a0007c0009a0008c0011others(2): Show | a0006c0007t0006a0007c0009t0002a0008c0011t0007others(2): Show | a0006c0007t0006g0039a0006c0007t0006g0040a0007c0009t0002g0003others(4): Show | 8 | 206 | 0.0388 | 5 | c.495 others(24): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 27/65 | chr6 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69804809 | C | CAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(2): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058others(14): Show | 17 | 324 | 0.0525 | 5 | c.294 others(22): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120182726 | G | GGTTTT | intron_variant | MODIFIER | HG01106.hp2 HG01261.hp2 HG02145.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0006a0002c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0006t0001others(2): Show | a0001c0001t0001g0103a0001c0001t0001g0142a0001c0001t0002g0091others(3): Show | 6 | 218 | 0.0275 | 5 | c.437 others(24): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 5/47 | chr8 | TogoVar |