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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COA5_chr2_98594314_98613512 | 98601223 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02109.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0076 a0001c0001t0004g0023 a0001c0001t0004g0030 others(4): Show |
11 | 420 | 0.0262 | 8 | c.184 others(23): Show |
COA5 | ENSG00000183513.9 | transcript | ENST00000328709.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234377059 | C | CGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01515.hp2 HG01993.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0002c0002t0001g0023 others(1): Show |
6 | 406 | 0.0148 | 8 | c.372 others(25): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234383036 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00733.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0057 a0002c0002t0001g0016 a0002c0002t0001g0022 others(13): Show |
25 | 406 | 0.0616 | 8 | c.373 others(23): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234383573 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02622.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0063 others(4): Show |
11 | 406 | 0.0271 | 8 | c.373 others(23): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COA7_chr1_52679449_52703347 | 52690667 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02572.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0003a0001c0001t0019a0002c0002t0002others(2): Show | a0001c0001t0003g0192 a0001c0001t0003g0201 a0001c0001t0019g0231 others(9): Show |
12 | 416 | 0.0289 | 8 | c.247 others(25): Show |
COA7 | ENSG00000162377.6 | transcript | ENST00000371538.5 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
COA8_chr14_103557960_103595896 | 103582737 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02717.hp1 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0002 | a0003c0004t0001g0010 a0003c0004t0001g0098 a0003c0004t0002g0011 others(5): Show |
10 | 382 | 0.0262 | 8 | c.386 others(25): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COA8_chr14_103557960_103595896 | 103586200 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(43): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0278 a0001c0003t0001g0005 a0001c0003t0001g0008 others(38): Show |
46 | 382 | 0.1204 | 8 | c.386 others(25): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164683005 | T | TACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01496.hp2 HG02970.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0029a0002c0003t0054 | a0001c0001t0029g0179 a0002c0003t0054g0169 |
2 | 212 | 0.0094 | 8 | c.*29 others(19): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 14/14 | 2940 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164714154 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03486.hp2 NA19240.hp1 |
a0001a0004a0022 | a0001c0001a0004c0005a0022c0013 | a0001c0001t0002a0004c0005t0015a0022c0013t0002 | a0001c0001t0002g0074 a0004c0005t0015g0110 a0022c0013t0002g0116 |
3 | 212 | 0.0142 | 8 | c.996 others(25): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164725101 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01256.hp2 HG01934.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0025a0003c0004 | a0001c0001t0001a0001c0025t0037a0003c0004t0006others(1): Show | a0001c0001t0001g0117 a0001c0025t0037g0069 a0003c0004t0006g0062 others(3): Show |
6 | 212 | 0.0283 | 8 | c.662 others(25): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164799019 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00733.hp1 others(20): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0033others(4): Show | a0001c0001t0001a0001c0001t0020a0001c0001t0029others(11): Show | a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 others(20): Show |
23 | 212 | 0.1085 | 8 | c.41+ others(25): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164805325 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG02897.hp2 |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0004c0005t0015 | a0001c0002t0001g0170 a0001c0002t0001g0171 a0004c0005t0015g0184 |
3 | 212 | 0.0142 | 8 | c.41+ others(25): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164805329 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02965.hp2 HG06807.hp2 others(1): Show |
a0001a0021 | a0001c0001a0001c0002a0021c0023 | a0001c0001t0001a0001c0001t0002a0001c0002t0011others(1): Show | a0001c0001t0001g0138 a0001c0001t0002g0112 a0001c0002t0011g0201 others(1): Show |
4 | 212 | 0.0189 | 8 | c.41+ others(25): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164805331 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02698.hp2 |
a0001a0002 | a0001c0001a0002c0030 | a0001c0001t0001a0002c0030t0022 | a0001c0001t0001g0153 a0002c0030t0022g0172 |
2 | 212 | 0.0094 | 8 | c.41+ others(25): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164805335 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01243.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0004a0001c0002t0019others(1): Show | a0001c0001t0001g0013 a0001c0002t0004g0189 a0001c0002t0019g0152 others(1): Show |
4 | 212 | 0.0189 | 8 | c.41+ others(25): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164805337 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0008 | a0001c0002t0004g0186 a0001c0002t0008g0176 |
2 | 212 | 0.0094 | 8 | c.41+ others(25): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51018891 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03710.hp1 NA19010.hp2 others(3): Show |
a0001a0003a0005others(1): Show | a0001c0037a0003c0001a0003c0011others(2): Show | a0001c0037t0001a0003c0001t0001a0003c0011t0001others(2): Show | a0001c0037t0001g0175 a0003c0001t0001g0118 a0003c0001t0001g0203 others(3): Show |
6 | 230 | 0.0261 | 8 | c.376 others(27): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51056812 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG02015.hp2 others(20): Show |
a0001a0003 | a0001c0003a0001c0005a0001c0007others(11): Show | a0001c0003t0001a0001c0005t0001a0001c0005t0003others(13): Show | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0047 others(20): Show |
23 | 230 | 0.1000 | 8 | c.109 others(29): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51061946 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01074.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0005a0001c0006others(9): Show | a0001c0003t0001a0001c0005t0001a0001c0005t0003others(11): Show | a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0100 others(23): Show |
26 | 230 | 0.1130 | 8 | c.109 others(29): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51098224 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01928.hp1 HG03831.hp2 NA18964.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0047a0002c0004others(2): Show | a0001c0003t0002a0001c0047t0001a0002c0004t0001others(3): Show | a0001c0003t0002g0226 a0001c0047t0001g0217 a0002c0004t0001g0225 others(3): Show |
6 | 230 | 0.0261 | 8 | c.958 others(27): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51108917 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01243.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0009a0002c0002a0002c0004others(2): Show | a0001c0009t0001a0002c0002t0002a0002c0004t0001others(3): Show | a0001c0009t0001g0014 a0002c0002t0002g0071 a0002c0004t0001g0195 others(5): Show |
8 | 230 | 0.0348 | 8 | c.958 others(27): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51177775 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02723.hp2 HG02922.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0006a0001c0034others(5): Show | a0001c0003t0001a0001c0006t0003a0001c0034t0005others(5): Show | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0004 others(8): Show |
11 | 230 | 0.0478 | 8 | c.783 others(25): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 5/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51187329 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03540.hp1 HG03579.hp2 others(1): Show |
a0003a0007a0010 | a0003c0031a0007c0021a0010c0022 | a0003c0031t0001a0007c0021t0001a0010c0022t0001 | a0003c0031t0001g0066 a0007c0021t0001g0127 a0010c0022t0001g0125 others(1): Show |
4 | 230 | 0.0174 | 8 | c.686 others(25): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51206491 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01109.hp2 HG01261.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0025a0001c0032others(7): Show | a0001c0003t0001a0001c0025t0002a0001c0032t0004others(8): Show | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0004 others(16): Show |
19 | 230 | 0.0826 | 8 | c.246 others(27): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51214272 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02615.hp1 HG02630.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0005a0001c0028others(5): Show | a0001c0003t0001a0001c0005t0003a0001c0028t0001others(6): Show | a0001c0003t0001g0023 a0001c0005t0003g0134 a0001c0005t0003g0150 others(8): Show |
11 | 230 | 0.0478 | 8 | c.245 others(25): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51294295 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02055.hp1 HG03453.hp2 others(5): Show |
a0001a0002a0007others(2): Show | a0001c0005a0002c0002a0002c0015others(3): Show | a0001c0005t0003a0002c0002t0002a0002c0015t0001others(3): Show | a0001c0005t0003g0134 a0001c0005t0003g0150 a0002c0002t0002g0133 others(5): Show |
8 | 230 | 0.0348 | 8 | c.41+ others(25): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
COG1_chr17_73188055_73213507 | 73190196 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01074.hp2 others(22): Show |
a0001a0002a0003 | a0001c0004a0002c0001a0003c0005 | a0001c0004t0001a0002c0001t0001a0003c0005t0001 | a0001c0004t0001g0024 a0002c0001t0001g0002 a0002c0001t0001g0005 others(16): Show |
25 | 428 | 0.0584 | 8 | c.-28 others(19): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 2858 | chr17 | TogoVar | |||||||
COG1_chr17_73188055_73213507 | 73207092 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01168.hp1 HG01168.hp2 others(13): Show |
a0002a0004 | a0002c0001a0004c0007 | a0002c0001t0001a0004c0007t0001 | a0002c0001t0001g0019 a0002c0001t0001g0032 a0002c0001t0001g0033 others(9): Show |
16 | 428 | 0.0374 | 8 | c.273 others(23): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
COG2_chr1_230637481_230698982 | 230640922 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 HG03688.hp2 NA18960.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0001 | a0001c0001t0001g0127 a0001c0001t0001g0218 a0001c0001t0001g0223 others(3): Show |
6 | 406 | 0.0148 | 8 | c.-16 others(19): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 1558 | chr1 | TogoVar | |||||||
COG2_chr1_230637481_230698982 | 230643589 | G | GTTTTCTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0032 others(266): Show |
348 | 406 | 0.8571 | 8 | c.72+ others(21): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45521577 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00642.hp1 others(20): Show |
a0002 | a0002c0003a0002c0004a0002c0005 | a0002c0003t0002a0002c0004t0001a0002c0004t0010others(2): Show | a0002c0003t0002g0209 a0002c0003t0002g0233 a0002c0003t0002g0234 others(20): Show |
23 | 342 | 0.0673 | 8 | c.215 others(27): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45525634 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(107): Show |
a0001a0002a0007others(1): Show | a0001c0002a0002c0003a0002c0005others(3): Show | a0001c0002t0001a0001c0002t0009a0002c0003t0002others(5): Show | a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0203 others(103): Show |
110 | 342 | 0.3216 | 8 | c.223 others(25): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70500365 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02109.hp1 others(21): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0001 a0001c0002t0002g0007 a0001c0002t0002g0008 others(20): Show |
24 | 354 | 0.0678 | 8 | c.119 others(25): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 9/18 | chr16 | TogoVar | |||||||
COG4_chr16_70475571_70528554 | 70503595 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02559.hp2 others(12): Show |
a0001a0005 | a0001c0002a0001c0003a0005c0010 | a0001c0002t0001a0001c0002t0004a0001c0003t0001others(3): Show | a0001c0002t0001g0072 a0001c0002t0001g0125 a0001c0002t0001g0134 others(12): Show |
15 | 354 | 0.0424 | 8 | c.106 others(27): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39651677 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG03490.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0015 | a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0119 others(4): Show |
7 | 370 | 0.0189 | 8 | c.-40 others(19): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 3984 | chr13 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39684243 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01169.hp2 HG02698.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002a0002c0002t0004 | a0001c0001t0004g0085 a0001c0001t0004g0086 a0002c0002t0002g0240 others(25): Show |
28 | 370 | 0.0757 | 8 | c.788 others(25): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39706255 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG00738.hp1 others(58): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0087 others(54): Show |
61 | 370 | 0.1649 | 8 | c.128 others(27): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102878475 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG00738.hp1 others(14): Show |
a0002a0003a0004others(2): Show | a0002c0001a0003c0003a0003c0026others(3): Show | a0002c0001t0002a0003c0003t0002a0003c0026t0002others(3): Show | a0002c0001t0002g0136 a0003c0003t0002g0086 a0003c0003t0002g0087 others(14): Show |
17 | 184 | 0.0924 | 8 | c.527 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 66/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102889383 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02896.hp1 NA18998.hp1 NA19082.hp2 |
a0001a0002 | a0001c0006a0002c0001 | a0001c0006t0010a0002c0001t0001 | a0001c0006t0010g0180 a0002c0001t0001g0145 a0002c0001t0001g0167 |
3 | 184 | 0.0163 | 8 | c.446 others(23): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 59/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102945247 | A | ACTCTCTC others(1): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03098.hp1 others(2): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0007 | a0001c0002t0003a0002c0001t0001a0004c0007t0001 | a0001c0002t0003g0019 a0001c0002t0003g0037 a0001c0002t0003g0066 others(2): Show |
5 | 184 | 0.0272 | 8 | c.327 others(27): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 42/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102966708 | C | CATACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(164): Show |
a0001a0002a0003others(16): Show | a0001c0002a0001c0004a0001c0005others(36): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(50): Show | a0001c0002t0001g0069 a0001c0002t0001g0095 a0001c0002t0002g0155 others(164): Show |
167 | 184 | 0.9076 | 8 | c.286 others(27): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 37/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102967227 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02004.hp2 HG02486.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0001a0003c0003others(1): Show | a0001c0002t0002a0001c0002t0003a0002c0001t0001others(2): Show | a0001c0002t0002g0155 a0001c0002t0003g0037 a0001c0002t0003g0038 others(11): Show |
14 | 184 | 0.0761 | 8 | c.286 others(27): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 37/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102974179 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02970.hp1 HG02976.hp2 others(3): Show |
a0001a0004a0019 | a0001c0004a0001c0016a0004c0014others(1): Show | a0001c0004t0004a0001c0004t0005a0001c0016t0004others(2): Show | a0001c0004t0004g0040 a0001c0004t0004g0042 a0001c0004t0005g0041 others(3): Show |
6 | 184 | 0.0326 | 8 | c.280 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 36/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103006178 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01884.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0005others(5): Show | a0001c0002t0002a0001c0002t0003a0001c0004t0004others(7): Show | a0001c0002t0002g0155 a0001c0002t0003g0019 a0001c0002t0003g0021 others(23): Show |
26 | 184 | 0.1413 | 8 | c.173 others(23): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 16/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103023370 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00735.hp2 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0005a0002c0024a0003c0023others(3): Show | a0001c0005t0005a0001c0005t0012a0002c0024t0002others(4): Show | a0001c0005t0005g0061 a0001c0005t0005g0070 a0001c0005t0005g0071 others(12): Show |
15 | 184 | 0.0815 | 8 | c.991 others(23): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 7/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103027396 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02486.hp1 HG03195.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0003a0001c0002t0011a0001c0004t0004others(1): Show | a0001c0002t0003g0037 a0001c0002t0011g0091 a0001c0004t0004g0175 others(1): Show |
4 | 184 | 0.0217 | 8 | c.781 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 5/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103036322 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02970.hp1 HG02976.hp2 NA19043.hp2 |
a0001a0019 | a0001c0004a0019c0029 | a0001c0004t0004a0019c0029t0004 | a0001c0004t0004g0040 a0001c0004t0004g0042 a0019c0029t0004g0043 |
3 | 184 | 0.0163 | 8 | c.652 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103037140 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02622.hp2 HG02717.hp2 others(4): Show |
a0001a0005 | a0001c0008a0005c0010 | a0001c0008t0006a0005c0010t0001 | a0001c0008t0006g0003 a0001c0008t0006g0004 a0001c0008t0006g0006 others(4): Show |
7 | 184 | 0.0380 | 8 | c.652 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103037252 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG03195.hp1 others(1): Show |
a0004a0006 | a0004c0014a0006c0017a0006c0039 | a0004c0014t0001a0006c0017t0001a0006c0039t0003 | a0004c0014t0001g0047 a0006c0017t0001g0025 a0006c0017t0001g0026 others(1): Show |
4 | 184 | 0.0217 | 8 | c.652 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103065750 | A | AGAGTGAA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG01243.hp1 others(12): Show |
a0002a0005a0012 | a0002c0001a0002c0033a0005c0010others(1): Show | a0002c0001t0001a0002c0001t0002a0002c0033t0013others(2): Show | a0002c0001t0001g0100 a0002c0001t0001g0110 a0002c0001t0002g0097 others(12): Show |
15 | 184 | 0.0815 | 8 | c.651 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar |