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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COA1_chr7_43634257_43734523 | 43691419 | GAAA | G | intron_variant | MODIFIER | HG01975.hp2 HG02523.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0172a0001c0001t0001g0188others(2): Show | 5 | 384 | 0.0130 | -3 | c.-39 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43700275 | CTGT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0358others(17): Show | 22 | 384 | 0.0573 | -3 | c.-39 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43701188 | AATG | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(152): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0022others(150): Show | 155 | 384 | 0.4037 | -3 | c.-39 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43715006 | TAAA | T | intron_variant | MODIFIER | HG01884.hp1 HG02056.hp2 HG02074.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0119others(10): Show | 13 | 384 | 0.0339 | -3 | c.-39 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43722825 | ACAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0358others(17): Show | 22 | 384 | 0.0573 | -3 | c.-39 others(20): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA3_chr17_42792625_42803704 | 42801511 | ATAT | A | upstream_gene_variant | MODIFIER | HG01952.hp1 HG02071.hp1 HG02738.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0002 | 7 | 310 | 0.0226 | -3 | c.-28 others(14): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2808 | chr17 | TogoVar | ||||||
COA5_chr2_98594314_98613512 | 98601348 | ATTC | A | intron_variant | MODIFIER | HG02109.hp2 HG03704.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0054a0001c0001t0006g0021 | 4 | 420 | 0.0095 | -3 | c.184 others(18): Show |
COA5 | ENSG00000183513.9 | transcript | ENST00000328709.8 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234372830 | TTTC | T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01106.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(18): Show | 25 | 406 | 0.0616 | -3 | c.-63 others(12): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 625 | chr1 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234375133 | CAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0033a0001c0001t0002g0072others(2): Show | 16 | 406 | 0.0394 | -3 | c.372 others(18): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COA7_chr1_52679449_52703347 | 52691823 | CAAG | C | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0044a0001c0001t0012g0230 | 3 | 416 | 0.0072 | -3 | c.247 others(18): Show |
COA7 | ENSG00000162377.6 | transcript | ENST00000371538.5 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
COA8_chr14_103557960_103595896 | 103593232 | TTTG | T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01192.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0198a0001c0001t0001g0206others(5): Show | 8 | 382 | 0.0209 | -3 | c.*29 others(14): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 2337 | chr14 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164701700 | CAGT | C | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp1 others(16): Show |
a0002a0014 | a0002c0003a0014c0031 | a0002c0003t0003a0002c0003t0023a0002c0003t0024others(2): Show | a0002c0003t0003g0025a0002c0003t0003g0073a0002c0003t0003g0075others(15): Show | 19 | 212 | 0.0896 | -3 | c.122 others(20): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 9/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164714052 | AAAG | A | intron_variant | MODIFIER | HG01496.hp2 HG03579.hp2 NA20129.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0024a0002c0003 | a0001c0001t0014a0001c0001t0027a0001c0024t0028others(1): Show | a0001c0001t0014g0019a0001c0001t0027g0188a0001c0024t0028g0192others(1): Show | 4 | 212 | 0.0189 | -3 | c.996 others(20): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 7/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164730506 | TAAC | T | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01109.hp2 others(26): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0033a0002c0030others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(11): Show | a0001c0002t0001g0044a0001c0002t0001g0170a0001c0002t0001g0171others(26): Show | 29 | 212 | 0.1368 | -3 | c.231 others(18): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 3/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164774790 | CTAA | C | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00735.hp1 others(47): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0027a0001c0001t0029others(20): Show | a0001c0001t0001g0103a0001c0001t0027g0188a0001c0001t0029g0179others(46): Show | 50 | 212 | 0.2359 | -3 | c.42- others(20): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164801438 | CAAA | C | intron_variant | MODIFIER | HG01106.hp2 HG01256.hp2 HG01496.hp2 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0025others(5): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(9): Show | a0001c0001t0001g0015a0001c0001t0001g0061a0001c0001t0001g0087others(16): Show | 19 | 212 | 0.0896 | -3 | c.41+ others(20): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164809887 | CTGG | C | 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 | -3 | c.41+ others(20): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164813042 | TTTA | T | intron_variant | MODIFIER | HG01175.hp1 HG02055.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0002t0013a0001c0002t0034others(1): Show | a0001c0001t0033g0052a0001c0002t0013g0028a0001c0002t0013g0053others(2): Show | 5 | 212 | 0.0236 | -3 | c.41+ others(20): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164822725 | GATT | G | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG02280.hp2 others(6): Show |
a0001a0005a0014 | a0001c0001a0001c0002a0005c0006others(2): Show | a0001c0001t0017a0001c0001t0038a0001c0002t0001others(3): Show | a0001c0001t0017g0206a0001c0001t0017g0208a0001c0001t0038g0207others(5): Show | 9 | 212 | 0.0425 | -3 | c.41+ others(20): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164822734 | ATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(17): Show | a0001c0001t0001g0013a0001c0001t0001g0035a0001c0001t0001g0036others(46): Show | 50 | 212 | 0.2359 | -3 | c.41+ others(20): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164842764 | TTAA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00735.hp2 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(24): Show | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0037others(40): Show | 43 | 212 | 0.2028 | -3 | c.-11 others(14): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 942 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164844074 | CTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01109.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(4): Show | a0001c0001t0001g0038a0001c0001t0007g0042a0001c0002t0001g0170others(5): Show | 8 | 212 | 0.0377 | -3 | c.-24 others(14): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2252 | chr2 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51015379 | GAGA | G | downstream_gene_variant | MODIFIER | NA18981.hp2 NA19003.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0141a0001c0004t0001g0225 | 2 | 230 | 0.0087 | -3 | c.*21 others(14): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 832 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51030870 | GTCT | G | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(101): Show |
a0002a0004a0005others(8): Show | a0002c0003a0002c0007a0002c0019others(28): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(44): Show | a0002c0003t0001g0001a0002c0003t0001g0002a0002c0003t0001g0004others(101): Show | 104 | 230 | 0.4522 | -3 | c.144 others(12): Show |
p.Glu others(6): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 9/13 | 1621/5301 | 1443/3786 | 481/1261 | chr7 | TogoVar | ||
COBL_chr7_51011212_51321809 | 51036336 | CAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02630.hp1 others(5): Show |
a0002a0005a0010 | a0002c0003a0002c0028a0005c0005others(3): Show | a0002c0003t0001a0002c0028t0001a0005c0005t0001others(3): Show | a0002c0003t0001g0111a0002c0003t0001g0190a0002c0028t0001g0007others(5): Show | 8 | 230 | 0.0348 | -3 | c.140 others(22): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 8/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51086358 | GAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01074.hp2 others(61): Show |
a0001a0002a0003others(13): Show | a0001c0004a0001c0015a0002c0003others(30): Show | a0001c0004t0006a0001c0015t0001a0001c0015t0006others(42): Show | a0001c0004t0006g0003a0001c0004t0006g0109a0001c0015t0001g0169others(61): Show | 64 | 230 | 0.2783 | -3 | c.958 others(20): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51107085 | TTTG | T | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01074.hp2 others(9): Show |
a0002a0003a0004others(5): Show | a0002c0019a0003c0001a0003c0011others(7): Show | a0002c0019t0001a0003c0001t0002a0003c0011t0001others(8): Show | a0002c0019t0001g0032a0003c0001t0002g0054a0003c0011t0001g0012others(9): Show | 12 | 230 | 0.0522 | -3 | c.958 others(22): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51210246 | GATC | G | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG03130.hp1 |
a0001a0004a0010 | a0001c0004a0004c0010a0010c0034 | a0001c0004t0001a0004c0010t0007a0010c0034t0005 | a0001c0004t0001g0010a0004c0010t0007g0011a0010c0034t0005g0182 | 3 | 230 | 0.0130 | -3 | c.245 others(20): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51210277 | ATTG | A | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG03130.hp1 |
a0001a0004a0010 | a0001c0004a0004c0010a0010c0034 | a0001c0004t0001a0004c0010t0007a0010c0034t0005 | a0001c0004t0001g0010a0004c0010t0007g0011a0010c0034t0005g0182 | 3 | 230 | 0.0130 | -3 | c.245 others(20): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51272946 | TACC | T | intron_variant | MODIFIER | HG01433.hp2 HG02451.hp2 HG02615.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0003a0002c0049others(3): Show | a0001c0004t0007a0002c0003t0001a0002c0049t0001others(3): Show | a0001c0004t0007g0016a0001c0004t0007g0045a0002c0003t0001g0067others(4): Show | 7 | 230 | 0.0304 | -3 | c.41+ others(20): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51272948 | CCAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01934.hp2 others(22): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0004a0001c0035others(14): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0003others(15): Show | a0001c0002t0002g0224a0001c0004t0001g0225a0001c0004t0003g0227others(22): Show | 25 | 230 | 0.1087 | -3 | c.41+ others(20): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30882245 | TCAG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0067a0001c0001t0001g0073others(25): Show | 29 | 478 | 0.0607 | -3 | c.629 others(20): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
COCH_chr14_30869559_30895618 | 30883348 | ATTC | A | intron_variant | MODIFIER | HG02717.hp1 HG02717.hp2 HG02965.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0057others(6): Show | 9 | 478 | 0.0188 | -3 | c.630 others(20): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
COCH_chr14_30869559_30895618 | 30890274 | CAAT | C | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG02109.hp2 HG02145.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0003a0001c0005t0009a0002c0002t0008 | a0001c0001t0003g0007a0001c0001t0003g0069a0001c0001t0003g0105others(6): Show | 11 | 478 | 0.0230 | -3 | c.*48 others(12): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 12/12 | 488 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
COCH_chr14_30869559_30895618 | 30893149 | ATTT | A | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01891.hp1 HG02109.hp1 others(11): Show |
a0001a0002a0010 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0047others(10): Show | 14 | 478 | 0.0293 | -3 | c.*33 others(14): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 2532 | chr14 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30895053 | CAAA | C | downstream_gene_variant | MODIFIER | HG02074.hp1 NA18962.hp1 NA18971.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0091a0001c0001t0001g0099a0001c0001t0001g0161others(6): Show | 9 | 478 | 0.0188 | -3 | c.*52 others(14): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 4436 | chr14 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30895077 | AAAG | A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02818.hp1 others(12): Show |
a0001a0005 | a0001c0001a0001c0013a0005c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0049a0001c0001t0001g0051a0001c0001t0001g0109others(12): Show | 15 | 478 | 0.0314 | -3 | c.*52 others(14): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 4460 | chr14 | TogoVar | ||||||
COG1_chr17_73188055_73213507 | 73204554 | CTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG01891.hp1 HG02055.hp1 others(16): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0005 | a0001c0002t0001a0001c0004t0001a0003c0005t0001 | a0001c0002t0001g0008a0001c0002t0001g0026a0001c0002t0001g0035others(6): Show | 19 | 428 | 0.0444 | -3 | c.238 others(20): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
COG1_chr17_73188055_73213507 | 73207092 | CAAA | C | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG02717.hp1 others(4): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0001a0002c0001t0001 | a0001c0004t0001g0023a0001c0004t0001g0111a0001c0004t0001g0112others(2): Show | 7 | 428 | 0.0164 | -3 | c.273 others(18): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
COG2_chr1_230637481_230698982 | 230681984 | TATC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0001c0010others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(19): Show | a0001c0001t0001g0009a0001c0001t0001g0020a0001c0001t0001g0022others(162): Show | 215 | 406 | 0.5296 | -3 | c.116 others(22): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COG2_chr1_230637481_230698982 | 230683549 | ATTC | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(160): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0012others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0001g0299a0001c0001t0001g0300a0001c0002t0001g0001others(118): Show | 163 | 406 | 0.4015 | -3 | c.116 others(18): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COG2_chr1_230637481_230698982 | 230692789 | GTTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(197): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(18): Show | a0001c0001t0001g0009a0001c0001t0001g0020a0001c0001t0001g0022others(151): Show | 200 | 406 | 0.4926 | -3 | c.211 others(20): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COG2_chr1_230637481_230698982 | 230693951 | ACCT | A | 3_prime_UTR_variant | MODIFIER | NA18967.hp2 NA18974.hp1 NA18979.hp2 others(4): Show |
a0003a0005 | a0003c0004a0005c0016 | a0003c0004t0005a0005c0016t0005 | a0003c0004t0005g0049a0003c0004t0005g0253a0003c0004t0005g0254others(3): Show | 7 | 406 | 0.0172 | -3 | c.*56 others(12): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 18/18 | 562 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
COG3_chr13_45459939_45541701 | 45460207 | CTTT | C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG02630.hp1 HG02895.hp2 others(5): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0002c0005others(1): Show | a0001c0002t0001a0002c0003t0002a0002c0005t0011others(2): Show | a0001c0002t0001g0229a0001c0002t0001g0230a0001c0002t0001g0245others(5): Show | 8 | 342 | 0.0234 | -3 | c.-48 others(14): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 4731 | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45471687 | TGTA | T | intron_variant | MODIFIER | HG02647.hp1 HG02922.hp2 HG02976.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0002 | a0001c0002t0001g0229a0001c0002t0001g0230a0002c0003t0002g0231 | 3 | 342 | 0.0088 | -3 | c.175 others(20): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45485648 | CAGA | C | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02717.hp1 others(6): Show |
a0001a0003 | a0001c0013a0003c0006 | a0001c0013t0004a0003c0006t0004a0003c0006t0015 | a0001c0013t0004g0194a0003c0006t0004g0193a0003c0006t0004g0195others(6): Show | 9 | 342 | 0.0263 | -3 | c.844 others(18): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45489819 | ATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(207): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0043others(205): Show | 210 | 342 | 0.6140 | -3 | c.925 others(20): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45490655 | AAAC | A | intron_variant | MODIFIER | HG01975.hp1 HG02572.hp1 HG02615.hp1 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0003a0002c0005t0013 | a0002c0005t0003g0151a0002c0005t0003g0152a0002c0005t0003g0153others(1): Show | 4 | 342 | 0.0117 | -3 | c.925 others(18): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45498356 | CTTT | C | intron_variant | MODIFIER | HG01074.hp2 HG02622.hp1 HG02976.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0002 | a0001c0002t0001g0229a0002c0003t0002g0233a0002c0003t0002g0234others(4): Show | 7 | 342 | 0.0205 | -3 | c.148 others(22): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45509042 | CTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01496.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0144a0002c0003t0002g0168a0002c0003t0002g0172others(3): Show | 6 | 342 | 0.0175 | -3 | c.159 others(20): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |