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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACAN_chr15_88798436_88880353 | 88855176 | C | T | missense_variant | MODERATE | HG00140.hp1 HG00639.hp2 HG00735.hp2 others(34): Show |
a0002a0020a0021others(4): Show | a0002c0001a0002c0132a0020c0023others(6): Show | a0002c0001t0001a0002c0001t0014a0002c0132t0001others(7): Show | a0002c0001t0001g0023a0002c0001t0001g0058a0002c0001t0001g0125others(33): Show | 37 | 368 | 0.1005 | 0 | c.259 others(4): Show |
p.Pro others(6): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 2972/8960 | 2591/7707 | 864/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855322 | C | A | missense_variant | MODERATE | HG00544.hp2 HG00639.hp1 HG01081.hp1 others(38): Show |
a0003a0008a0031others(10): Show | a0003c0003a0003c0011a0003c0138others(13): Show | a0003c0003t0001a0003c0011t0001a0003c0138t0001others(13): Show | a0003c0003t0001g0031a0003c0003t0001g0033a0003c0003t0001g0037others(38): Show | 41 | 368 | 0.1114 | 0 | c.273 others(4): Show |
p.Pro others(6): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3118/8960 | 2737/7707 | 913/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855374 | G | T | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(141): Show |
a0002a0005a0006others(55): Show | a0002c0001a0002c0132a0005c0004others(72): Show | a0002c0001t0001a0002c0001t0014a0002c0132t0001others(77): Show | a0002c0001t0001g0023a0002c0001t0001g0058a0002c0001t0001g0125others(137): Show | 144 | 368 | 0.3913 | 0 | c.278 others(4): Show |
p.Ser others(6): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3170/8960 | 2789/7707 | 930/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855383 | C | T | missense_variant | MODERATE | HG02145.hp2 | a0089 | a0089c0179 | a0089c0179t0011 | a0089c0179t0011g0162 | 1 | 368 | 0.0027 | 0 | c.279 others(4): Show |
p.Thr others(6): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3179/8960 | 2798/7707 | 933/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855400 | T | A | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00639.hp2 others(124): Show |
a0002a0005a0006others(44): Show | a0002c0001a0002c0132a0005c0004others(57): Show | a0002c0001t0001a0002c0001t0014a0002c0132t0001others(61): Show | a0002c0001t0001g0023a0002c0001t0001g0058a0002c0001t0001g0125others(120): Show | 127 | 368 | 0.3451 | 0 | c.281 others(4): Show |
p.Ser others(6): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3196/8960 | 2815/7707 | 939/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855427 | G | C | missense_variant | MODERATE | NA18980.hp2 NA19005.hp2 |
a0038 | a0038c0055 | a0038c0055t0001 | a0038c0055t0001g0043a0038c0055t0001g0050 | 2 | 368 | 0.0054 | 0 | c.284 others(4): Show |
p.Ala others(6): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3223/8960 | 2842/7707 | 948/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855428 | C | T | missense_variant | MODERATE | HG03654.hp2 | a0088 | a0088c0129 | a0088c0129t0001 | a0088c0129t0001g0255 | 1 | 368 | 0.0027 | 0 | c.284 others(4): Show |
p.Ala others(6): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3224/8960 | 2843/7707 | 948/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855532 | G | C | missense_variant | MODERATE | NA19003.hp1 | a0121 | a0121c0169 | a0121c0169t0001 | a0121c0169t0001g0107 | 1 | 368 | 0.0027 | 0 | c.294 others(4): Show |
p.Glu others(6): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3328/8960 | 2947/7707 | 983/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855595 | A | G | missense_variant | MODERATE | NA19043.hp1 | a0065 | a0065c0069 | a0065c0069t0001 | a0065c0069t0001g0156 | 1 | 368 | 0.0027 | 0 | c.301 others(4): Show |
p.Thr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3391/8960 | 3010/7707 | 1004/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855632 | C | G | missense_variant | MODERATE | HG03654.hp2 | a0088 | a0088c0129 | a0088c0129t0001 | a0088c0129t0001g0255 | 1 | 368 | 0.0027 | 0 | c.304 others(4): Show |
p.Ser others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3428/8960 | 3047/7707 | 1016/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855652 | A | G | missense_variant | MODERATE | HG01243.hp1 HG02258.hp2 HG03669.hp2 |
a0054a0066a0067 | a0054c0076a0066c0084a0067c0083 | a0054c0076t0001a0066c0084t0001a0067c0083t0001 | a0054c0076t0001g0361a0066c0084t0001g0155a0067c0083t0001g0295 | 3 | 368 | 0.0082 | 0 | c.306 others(4): Show |
p.Thr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3448/8960 | 3067/7707 | 1023/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855709 | A | G | missense_variant | MODERATE | HG00140.hp2 HG00733.hp1 HG00733.hp2 others(31): Show |
a0006a0015a0019others(13): Show | a0006c0008a0006c0017a0015c0036others(17): Show | a0006c0008t0001a0006c0017t0001a0015c0036t0005others(17): Show | a0006c0008t0001g0012a0006c0008t0001g0024a0006c0008t0001g0088others(30): Show | 34 | 368 | 0.0924 | 0 | c.312 others(4): Show |
p.Thr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3505/8960 | 3124/7707 | 1042/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855766 | A | G | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00639.hp2 others(119): Show |
a0002a0005a0006others(41): Show | a0002c0001a0002c0132a0005c0004others(56): Show | a0002c0001t0001a0002c0001t0014a0002c0132t0001others(59): Show | a0002c0001t0001g0023a0002c0001t0001g0058a0002c0001t0001g0125others(115): Show | 122 | 368 | 0.3315 | 0 | c.318 others(4): Show |
p.Thr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3562/8960 | 3181/7707 | 1061/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855823 | A | G | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(159): Show |
a0002a0003a0005others(53): Show | a0002c0001a0002c0132a0003c0003others(71): Show | a0002c0001t0001a0002c0001t0014a0002c0132t0001others(74): Show | a0002c0001t0001g0023a0002c0001t0001g0058a0002c0001t0001g0125others(155): Show | 162 | 368 | 0.4402 | 0 | c.323 others(4): Show |
p.Thr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3619/8960 | 3238/7707 | 1080/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855880 | G | A | missense_variant | MODERATE | HG01109.hp2 HG02630.hp2 HG02723.hp2 others(4): Show |
a0027a0087a0112others(2): Show | a0027c0032a0027c0102a0087c0108others(3): Show | a0027c0032t0001a0027c0102t0001a0087c0108t0001others(3): Show | a0027c0032t0001g0220a0027c0032t0001g0261a0027c0102t0001g0020others(4): Show | 7 | 368 | 0.0190 | 0 | c.329 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3676/8960 | 3295/7707 | 1099/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855908 | G | A | missense_variant | MODERATE | HG01496.hp2 | a0122 | a0122c0170 | a0122c0170t0001 | a0122c0170t0001g0256 | 1 | 368 | 0.0027 | 0 | c.332 others(4): Show |
p.Gly others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3704/8960 | 3323/7707 | 1108/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855937 | G | A | missense_variant | MODERATE | HG02723.hp2 HG06807.hp2 |
a0087a0139 | a0087c0108a0139c0058 | a0087c0108t0001a0139c0058t0001 | a0087c0108t0001g0045a0139c0058t0001g0245 | 2 | 368 | 0.0054 | 0 | c.335 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3733/8960 | 3352/7707 | 1118/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855943 | C | T | missense_variant | MODERATE | NA18982.hp2 | a0134 | a0134c0080 | a0134c0080t0001 | a0134c0080t0001g0115 | 1 | 368 | 0.0027 | 0 | c.335 others(4): Show |
p.Pro others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3739/8960 | 3358/7707 | 1120/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88855994 | G | A | missense_variant | MODERATE | HG03041.hp1 | a0138 | a0138c0057 | a0138c0057t0001 | a0138c0057t0001g0290 | 1 | 368 | 0.0027 | 0 | c.340 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3790/8960 | 3409/7707 | 1137/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856051 | G | A | missense_variant | MODERATE | HG01884.hp1 HG02280.hp1 HG02647.hp1 others(1): Show |
a0050a0068a0136 | a0050c0065a0050c0066a0068c0134others(1): Show | a0050c0065t0001a0050c0066t0001a0068c0134t0013others(1): Show | a0050c0065t0001g0007a0050c0066t0001g0163a0068c0134t0013g0280others(1): Show | 4 | 368 | 0.0109 | 0 | c.346 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3847/8960 | 3466/7707 | 1156/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856108 | G | A | missense_variant | MODERATE | HG01884.hp1 HG02055.hp1 HG02257.hp2 others(11): Show |
a0030a0040a0050others(7): Show | a0030c0056a0030c0174a0040c0041others(9): Show | a0030c0056t0001a0030c0174t0010a0040c0041t0001others(9): Show | a0030c0056t0001g0201a0030c0056t0001g0258a0030c0174t0010g0165others(11): Show | 14 | 368 | 0.0380 | 0 | c.352 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3904/8960 | 3523/7707 | 1175/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856165 | G | A | missense_variant | MODERATE | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(25): Show |
a0010a0028a0029others(10): Show | a0010c0009a0028c0024a0029c0175others(14): Show | a0010c0009t0001a0010c0009t0002a0028c0024t0001others(15): Show | a0010c0009t0001g0004a0010c0009t0001g0262a0010c0009t0001g0323others(24): Show | 28 | 368 | 0.0761 | 0 | c.358 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3961/8960 | 3580/7707 | 1194/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856185 | C | G | missense_variant | MODERATE | HG02630.hp1 | a0115 | a0115c0178 | a0115c0178t0001 | a0115c0178t0001g0286 | 1 | 368 | 0.0027 | 0 | c.360 others(4): Show |
p.Asp others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 3981/8960 | 3600/7707 | 1200/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856222 | G | A | missense_variant | MODERATE | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(26): Show |
a0010a0029a0030others(11): Show | a0010c0009a0029c0175a0029c0176others(16): Show | a0010c0009t0001a0010c0009t0002a0029c0175t0003others(18): Show | a0010c0009t0001g0004a0010c0009t0001g0262a0010c0009t0001g0323others(25): Show | 29 | 368 | 0.0788 | 0 | c.363 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4018/8960 | 3637/7707 | 1213/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856242 | C | G | missense_variant | MODERATE | HG01884.hp1 HG02280.hp1 HG02451.hp2 others(2): Show |
a0050a0068a0118others(1): Show | a0050c0065a0050c0066a0068c0134others(2): Show | a0050c0065t0001a0050c0066t0001a0068c0134t0013others(2): Show | a0050c0065t0001g0007a0050c0066t0001g0163a0068c0134t0013g0280others(2): Show | 5 | 368 | 0.0136 | 0 | c.365 others(4): Show |
p.Asp others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4038/8960 | 3657/7707 | 1219/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856279 | G | A | missense_variant | MODERATE | HG04184.hp2 | a0143 | a0143c0189 | a0143c0189t0001 | a0143c0189t0001g0121 | 1 | 368 | 0.0027 | 0 | c.369 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4075/8960 | 3694/7707 | 1232/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856299 | C | G | missense_variant | MODERATE | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(20): Show |
a0010a0028a0029others(6): Show | a0010c0009a0028c0024a0029c0175others(9): Show | a0010c0009t0001a0010c0009t0002a0028c0024t0001others(10): Show | a0010c0009t0001g0004a0010c0009t0001g0262a0010c0009t0001g0323others(19): Show | 23 | 368 | 0.0625 | 0 | c.371 others(4): Show |
p.Asp others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4095/8960 | 3714/7707 | 1238/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856336 | G | A | missense_variant | MODERATE | HG02109.hp2 HG02615.hp1 HG02809.hp2 others(1): Show |
a0017 | a0017c0012 | a0017c0012t0001 | a0017c0012t0001g0145a0017c0012t0001g0146a0017c0012t0001g0318others(1): Show | 4 | 368 | 0.0109 | 0 | c.375 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4132/8960 | 3751/7707 | 1251/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856366 | C | T | missense_variant | MODERATE | HG02723.hp2 | a0139 | a0139c0058 | a0139c0058t0001 | a0139c0058t0001g0245 | 1 | 368 | 0.0027 | 0 | c.378 others(4): Show |
p.Leu others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4162/8960 | 3781/7707 | 1261/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856454 | C | T | missense_variant | MODERATE | HG01358.hp2 NA19007.hp1 |
a0125a0126 | a0125c0171a0126c0093 | a0125c0171t0001a0126c0093t0001 | a0125c0171t0001g0097a0126c0093t0001g0118 | 2 | 368 | 0.0054 | 0 | c.386 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4250/8960 | 3869/7707 | 1290/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856470 | C | G | missense_variant | MODERATE | HG02615.hp2 HG02622.hp1 HG03098.hp2 |
a0030 | a0030c0056a0030c0174 | a0030c0056t0001a0030c0174t0010 | a0030c0056t0001g0201a0030c0056t0001g0258a0030c0174t0010g0165 | 3 | 368 | 0.0082 | 0 | c.388 others(4): Show |
p.Asp others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4266/8960 | 3885/7707 | 1295/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856477 | G | A | missense_variant | MODERATE | HG01255.hp1 NA19240.hp1 NA20129.hp1 |
a0028 | a0028c0024 | a0028c0024t0001 | a0028c0024t0001g0014a0028c0024t0001g0149a0028c0024t0001g0150 | 3 | 368 | 0.0082 | 0 | c.389 others(4): Show |
p.Gly others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4273/8960 | 3892/7707 | 1298/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856507 | G | A | missense_variant | MODERATE | HG02717.hp2 | a0085 | a0085c0112 | a0085c0112t0001 | a0085c0112t0001g0160 | 1 | 368 | 0.0027 | 0 | c.392 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4303/8960 | 3922/7707 | 1308/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856511 | C | T | missense_variant | MODERATE | HG00544.hp2 HG01081.hp1 HG01192.hp1 others(28): Show |
a0003a0031a0044others(6): Show | a0003c0003a0003c0011a0003c0138others(10): Show | a0003c0003t0001a0003c0011t0001a0003c0138t0001others(10): Show | a0003c0003t0001g0031a0003c0003t0001g0033a0003c0003t0001g0037others(28): Show | 31 | 368 | 0.0842 | 0 | c.392 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4307/8960 | 3926/7707 | 1309/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856564 | G | A | missense_variant | MODERATE | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(4): Show |
a0029a0037a0063others(1): Show | a0029c0175a0029c0176a0029c0187others(3): Show | a0029c0175t0003a0029c0176t0003a0029c0187t0003others(3): Show | a0029c0175t0003g0251a0029c0176t0003g0252a0029c0187t0003g0083others(4): Show | 7 | 368 | 0.0190 | 0 | c.397 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4360/8960 | 3979/7707 | 1327/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856568 | C | T | missense_variant | MODERATE | HG02145.hp2 HG02258.hp1 HG02559.hp1 others(4): Show |
a0025a0044a0089others(1): Show | a0025c0053a0025c0107a0044c0105others(3): Show | a0025c0053t0002a0025c0107t0015a0044c0105t0001others(3): Show | a0025c0053t0002g0006a0025c0053t0002g0164a0025c0107t0015g0277others(4): Show | 7 | 368 | 0.0190 | 0 | c.398 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4364/8960 | 3983/7707 | 1328/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856621 | G | A | missense_variant | MODERATE | HG00408.hp2 HG03688.hp2 HG04184.hp2 others(3): Show |
a0032a0060a0132others(1): Show | a0032c0182a0032c0184a0032c0191others(3): Show | a0032c0182t0001a0032c0184t0001a0032c0191t0001others(3): Show | a0032c0182t0001g0148a0032c0184t0001g0358a0032c0191t0001g0243others(3): Show | 6 | 368 | 0.0163 | 0 | c.403 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4417/8960 | 4036/7707 | 1346/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856639 | G | C | missense_variant | MODERATE | HG02258.hp2 | a0067 | a0067c0083 | a0067c0083t0001 | a0067c0083t0001g0295 | 1 | 368 | 0.0027 | 0 | c.405 others(4): Show |
p.Asp others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4435/8960 | 4054/7707 | 1352/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856678 | G | A | missense_variant | MODERATE | HG00408.hp2 HG03688.hp2 HG04184.hp2 others(5): Show |
a0032a0038a0060others(2): Show | a0032c0182a0032c0184a0032c0191others(4): Show | a0032c0182t0001a0032c0184t0001a0032c0191t0001others(4): Show | a0032c0182t0001g0148a0032c0184t0001g0358a0032c0191t0001g0243others(5): Show | 8 | 368 | 0.0217 | 0 | c.409 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4474/8960 | 4093/7707 | 1365/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856698 | C | G | missense_variant | MODERATE | HG06807.hp2 | a0087 | a0087c0108 | a0087c0108t0001 | a0087c0108t0001g0045 | 1 | 368 | 0.0027 | 0 | c.411 others(4): Show |
p.Asp others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4494/8960 | 4113/7707 | 1371/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856724 | T | C | missense_variant | MODERATE | HG02027.hp2 | a0124 | a0124c0089 | a0124c0089t0001 | a0124c0089t0001g0061 | 1 | 368 | 0.0027 | 0 | c.413 others(4): Show |
p.Val others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4520/8960 | 4139/7707 | 1380/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856735 | G | A | missense_variant | MODERATE | HG00408.hp2 HG02055.hp2 HG02145.hp2 others(22): Show |
a0025a0032a0033others(13): Show | a0025c0053a0025c0107a0032c0182others(19): Show | a0025c0053t0002a0025c0107t0015a0032c0182t0001others(20): Show | a0025c0053t0002g0006a0025c0053t0002g0164a0025c0107t0015g0277others(22): Show | 25 | 368 | 0.0679 | 0 | c.415 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4531/8960 | 4150/7707 | 1384/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856755 | C | G | missense_variant | MODERATE | NA19007.hp1 | a0126 | a0126c0093 | a0126c0093t0001 | a0126c0093t0001g0118 | 1 | 368 | 0.0027 | 0 | c.417 others(4): Show |
p.Asp others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4551/8960 | 4170/7707 | 1390/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856792 | A | G | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(150): Show |
a0002a0005a0006others(54): Show | a0002c0001a0002c0132a0005c0004others(71): Show | a0002c0001t0001a0002c0001t0014a0002c0132t0001others(74): Show | a0002c0001t0001g0023a0002c0001t0001g0058a0002c0001t0001g0125others(146): Show | 153 | 368 | 0.4158 | 0 | c.420 others(4): Show |
p.Thr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4588/8960 | 4207/7707 | 1403/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856812 | G | C | missense_variant | MODERATE | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(31): Show |
a0010a0028a0029others(16): Show | a0010c0009a0028c0024a0029c0175others(20): Show | a0010c0009t0001a0010c0009t0002a0028c0024t0001others(21): Show | a0010c0009t0001g0004a0010c0009t0001g0262a0010c0009t0001g0323others(30): Show | 34 | 368 | 0.0924 | 0 | c.422 others(4): Show |
p.Glu others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4608/8960 | 4227/7707 | 1409/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856849 | A | G | missense_variant | MODERATE | HG01975.hp2 HG02886.hp1 HG02896.hp1 others(2): Show |
a0022a0056a0071 | a0022c0019a0056c0075a0071c0130 | a0022c0019t0001a0056c0075t0001a0071c0130t0001 | a0022c0019t0001g0202a0022c0019t0001g0204a0022c0019t0001g0205others(2): Show | 5 | 368 | 0.0136 | 0 | c.426 others(4): Show |
p.Thr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4645/8960 | 4264/7707 | 1422/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856866 | T | G | missense_variant | MODERATE | NA19080.hp1 | a0071 | a0071c0130 | a0071c0130t0001 | a0071c0130t0001g0176 | 1 | 368 | 0.0027 | 0 | c.428 others(4): Show |
p.Asp others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4662/8960 | 4281/7707 | 1427/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856869 | G | C | missense_variant | MODERATE | NA19080.hp1 | a0071 | a0071c0130 | a0071c0130t0001 | a0071c0130t0001g0176 | 1 | 368 | 0.0027 | 0 | c.428 others(4): Show |
p.Glu others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4665/8960 | 4284/7707 | 1428/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856906 | A | G | missense_variant | MODERATE | HG02886.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0022a0071 | a0022c0019a0071c0130 | a0022c0019t0001a0071c0130t0001 | a0022c0019t0001g0202a0022c0019t0001g0204a0022c0019t0001g0205others(1): Show | 4 | 368 | 0.0109 | 0 | c.432 others(4): Show |
p.Thr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4702/8960 | 4321/7707 | 1441/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856926 | G | C | missense_variant | MODERATE | NA19080.hp1 | a0071 | a0071c0130 | a0071c0130t0001 | a0071c0130t0001g0176 | 1 | 368 | 0.0027 | 0 | c.434 others(4): Show |
p.Glu others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4722/8960 | 4341/7707 | 1447/2568 | chr15 | TogoVar |