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 | 88856221 | C | T | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(206): Show |
a0002a0003a0005others(83): Show | a0002c0001a0002c0132a0003c0003others(109): Show | a0002c0001t0001a0002c0001t0014a0002c0132t0001others(115): Show | a0002c0001t0001g0023a0002c0001t0001g0058a0002c0001t0001g0125others(201): Show | 209 | 368 | 0.5679 | 0 | c.363 others(4): Show |
p.Thr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4017/8960 | 3636/7707 | 1212/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856278 | T | C | synonymous_variant | LOW | HG00621.hp1 HG02258.hp1 HG02523.hp1 others(4): Show |
a0001a0092a0093others(3): Show | a0001c0044a0092c0104a0093c0144others(3): Show | a0001c0044t0001a0092c0104t0001a0093c0144t0001others(3): Show | a0001c0044t0001g0182a0001c0044t0001g0199a0092c0104t0001g0293others(4): Show | 7 | 368 | 0.0190 | 0 | c.369 others(4): Show |
p.Thr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4074/8960 | 3693/7707 | 1231/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856317 | T | A | synonymous_variant | LOW | HG02055.hp2 HG02965.hp1 HG03098.hp1 others(4): Show |
a0033a0041a0073others(1): Show | a0033c0060a0033c0061a0033c0063others(3): Show | a0033c0060t0001a0033c0061t0001a0033c0063t0001others(4): Show | a0033c0060t0001g0209a0033c0061t0001g0292a0033c0063t0001g0210others(4): Show | 7 | 368 | 0.0190 | 0 | c.373 others(4): Show |
p.Ser others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4113/8960 | 3732/7707 | 1244/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856335 | T | C | synonymous_variant | LOW | HG02572.hp2 HG02647.hp2 HG02976.hp1 others(1): Show |
a0026a0093 | a0026c0043a0026c0145a0093c0144 | a0026c0043t0001a0026c0043t0008a0026c0145t0001others(1): Show | a0026c0043t0001g0347a0026c0043t0008g0294a0026c0145t0001g0231others(1): Show | 4 | 368 | 0.0109 | 0 | c.375 others(4): Show |
p.Thr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4131/8960 | 3750/7707 | 1250/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856392 | T | C | synonymous_variant | LOW | HG02976.hp1 | a0093 | a0093c0144 | a0093c0144t0001 | a0093c0144t0001g0018 | 1 | 368 | 0.0027 | 0 | c.380 others(4): Show |
p.Thr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4188/8960 | 3807/7707 | 1269/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856875 | T | C | synonymous_variant | LOW | HG00733.hp1 HG01069.hp2 HG01071.hp2 others(5): Show |
a0002a0006a0054others(3): Show | a0002c0132a0006c0017a0054c0076others(3): Show | a0002c0132t0001a0006c0017t0001a0054c0076t0001others(3): Show | a0002c0132t0001g0092a0006c0017t0001g0093a0006c0017t0001g0275others(5): Show | 8 | 368 | 0.0217 | 0 | c.429 others(4): Show |
p.Ser others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4671/8960 | 4290/7707 | 1430/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856974 | G | A | synonymous_variant | LOW | NA19080.hp1 | a0071 | a0071c0130 | a0071c0130t0001 | a0071c0130t0001g0176 | 1 | 368 | 0.0027 | 0 | c.438 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4770/8960 | 4389/7707 | 1463/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856989 | T | C | synonymous_variant | LOW | NA19080.hp1 | a0071 | a0071c0130 | a0071c0130t0001 | a0071c0130t0001g0176 | 1 | 368 | 0.0027 | 0 | c.440 others(4): Show |
p.Ser others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4785/8960 | 4404/7707 | 1468/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88856992 | A | G | synonymous_variant | LOW | NA19080.hp1 | a0071 | a0071c0130 | a0071c0130t0001 | a0071c0130t0001g0176 | 1 | 368 | 0.0027 | 0 | c.440 others(4): Show |
p.Gly others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 4788/8960 | 4407/7707 | 1469/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88857340 | C | T | synonymous_variant | LOW | HG01261.hp2 HG01361.hp1 HG01928.hp2 others(9): Show |
a0001a0004a0013others(2): Show | a0001c0025a0004c0010a0013c0160others(2): Show | a0001c0025t0001a0004c0010t0001a0013c0160t0001others(2): Show | a0001c0025t0001g0059a0001c0025t0001g0173a0001c0025t0001g0350others(9): Show | 12 | 368 | 0.0326 | 0 | c.475 others(4): Show |
p.Asp others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 5136/8960 | 4755/7707 | 1585/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88858384 | T | G | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(187): Show |
a0002a0003a0005others(65): Show | a0002c0001a0002c0132a0003c0003others(83): Show | a0002c0001t0001a0002c0001t0014a0002c0132t0001others(87): Show | a0002c0001t0001g0023a0002c0001t0001g0058a0002c0001t0001g0125others(183): Show | 190 | 368 | 0.5163 | 0 | c.579 others(4): Show |
p.Thr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 6180/8960 | 5799/7707 | 1933/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88858594 | T | C | synonymous_variant | LOW | HG01109.hp2 HG01515.hp2 HG01517.hp1 others(8): Show |
a0027a0049a0096others(5): Show | a0027c0032a0027c0102a0049c0031others(6): Show | a0027c0032t0001a0027c0102t0001a0049c0031t0001others(6): Show | a0027c0032t0001g0220a0027c0032t0001g0261a0027c0102t0001g0020others(8): Show | 11 | 368 | 0.0299 | 0 | c.600 others(4): Show |
p.Tyr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 6390/8960 | 6009/7707 | 2003/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88858996 | C | T | synonymous_variant | LOW | HG01255.hp1 HG02109.hp1 NA19240.hp1 others(1): Show |
a0028a0140 | a0028c0024a0140c0059 | a0028c0024t0001a0140c0059t0005 | a0028c0024t0001g0014a0028c0024t0001g0149a0028c0024t0001g0150others(1): Show | 4 | 368 | 0.0109 | 0 | c.641 others(4): Show |
p.His others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 6792/8960 | 6411/7707 | 2137/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88859008 | T | C | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(253): Show |
a0002a0003a0005others(106): Show | a0002c0001a0002c0132a0003c0003others(133): Show | a0002c0001t0001a0002c0001t0014a0002c0132t0001others(139): Show | a0002c0001t0001g0023a0002c0001t0001g0058a0002c0001t0001g0125others(248): Show | 256 | 368 | 0.6957 | 0 | c.642 others(4): Show |
p.Leu others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 6804/8960 | 6423/7707 | 2141/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88859155 | G | T | synonymous_variant | LOW | HG00735.hp2 | a0021 | a0021c0133 | a0021c0133t0001 | a0021c0133t0001g0161 | 1 | 368 | 0.0027 | 0 | c.657 others(4): Show |
p.Thr others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 6951/8960 | 6570/7707 | 2190/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88859365 | T | G | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(160): Show |
a0001a0002a0004others(67): Show | a0001c0015a0001c0042a0002c0001others(80): Show | a0001c0015t0001a0001c0042t0001a0002c0001t0001others(82): Show | a0001c0015t0001g0008a0001c0015t0001g0142a0001c0015t0001g0304others(156): Show | 163 | 368 | 0.4429 | 0 | c.678 others(4): Show |
p.Ala others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/19 | 7161/8960 | 6780/7707 | 2260/2568 | chr15 | TogoVar | ||
ACAN_chr15_88798436_88880353 | 88871518 | C | T | synonymous_variant | LOW | HG00642.hp1 | a0016 | a0016c0120 | a0016c0120t0001 | a0016c0120t0001g0345 | 1 | 368 | 0.0027 | 0 | c.719 others(4): Show |
p.Pro others(7): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 15/19 | 7578/8960 | 7197/7707 | 2399/2568 | chr15 | TogoVar | ||
ACAP1_chr17_7331529_7356477 | 7337315 | C | G | synonymous_variant | LOW | HG02698.hp2 | a0001 | a0001c0018 | a0001c0018t0004 | a0001c0018t0004g0204 | 1 | 446 | 0.0022 | 0 | c.57C others(2): Show |
p.Ala others(5): Show |
ACAP1 | ENSG00000072818.12 | transcript | ENST00000158762.8 | protein_coding | 2/22 | 263/2511 | 57/2223 | 19/740 | chr17 | TogoVar | ||
ACAP1_chr17_7331529_7356477 | 7342013 | C | T | synonymous_variant | LOW | HG01975.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0017 | 1 | 446 | 0.0022 | 0 | c.177 others(3): Show |
p.Phe others(5): Show |
ACAP1 | ENSG00000072818.12 | transcript | ENST00000158762.8 | protein_coding | 3/22 | 383/2511 | 177/2223 | 59/740 | chr17 | TogoVar | ||
ACAP1_chr17_7331529_7356477 | 7342052 | A | G | synonymous_variant | LOW | HG00140.hp2 HG00597.hp2 HG00639.hp1 others(120): Show |
a0001a0003a0006others(1): Show | a0001c0002a0001c0008a0001c0016others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0008t0001others(5): Show | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0005others(74): Show | 123 | 446 | 0.2758 | 0 | c.216 others(3): Show |
p.Pro others(5): Show |
ACAP1 | ENSG00000072818.12 | transcript | ENST00000158762.8 | protein_coding | 3/22 | 422/2511 | 216/2223 | 72/740 | chr17 | TogoVar | ||
ACAP1_chr17_7331529_7356477 | 7343532 | C | T | synonymous_variant | LOW | HG00438.hp1 HG00597.hp1 HG00621.hp1 others(28): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0003t0002a0001c0008t0001others(1): Show | a0001c0003t0001g0008a0001c0003t0001g0013a0001c0003t0001g0022others(15): Show | 31 | 446 | 0.0695 | 0 | c.498 others(3): Show |
p.Tyr others(6): Show |
ACAP1 | ENSG00000072818.12 | transcript | ENST00000158762.8 | protein_coding | 6/22 | 704/2511 | 498/2223 | 166/740 | chr17 | TogoVar | ||
ACAP1_chr17_7331529_7356477 | 7347234 | C | T | synonymous_variant | LOW | HG00738.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0132 | 1 | 446 | 0.0022 | 0 | c.133 others(4): Show |
p.Gly others(6): Show |
ACAP1 | ENSG00000072818.12 | transcript | ENST00000158762.8 | protein_coding | 14/22 | 1541/2511 | 1335/2223 | 445/740 | chr17 | TogoVar | ||
ACAP1_chr17_7331529_7356477 | 7348177 | C | T | synonymous_variant | LOW | NA18906.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0073 | 1 | 446 | 0.0022 | 0 | c.146 others(4): Show |
p.Arg others(6): Show |
ACAP1 | ENSG00000072818.12 | transcript | ENST00000158762.8 | protein_coding | 16/22 | 1670/2511 | 1464/2223 | 488/740 | chr17 | TogoVar | ||
ACAP1_chr17_7331529_7356477 | 7349050 | G | A | synonymous_variant | LOW | NA18906.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0073 | 1 | 446 | 0.0022 | 0 | c.173 others(4): Show |
p.Ala others(6): Show |
ACAP1 | ENSG00000072818.12 | transcript | ENST00000158762.8 | protein_coding | 18/22 | 1940/2511 | 1734/2223 | 578/740 | chr17 | TogoVar | ||
ACAP2_chr3_195269745_195448020 | 195295790 | G | A | synonymous_variant | LOW | HG02647.hp2 HG02717.hp1 NA18522.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0103a0001c0004t0002g0104a0001c0004t0002g0105 | 3 | 324 | 0.0093 | 0 | c.159 others(4): Show |
p.Val others(6): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 17/23 | 1763/7093 | 1590/2337 | 530/778 | chr3 | TogoVar | ||
ACAP2_chr3_195269745_195448020 | 195306610 | G | A | synonymous_variant | LOW | HG00438.hp2 HG00558.hp2 HG00673.hp1 others(39): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0004a0001c0002t0015others(4): Show | a0001c0002t0001g0043a0001c0002t0004g0004a0001c0002t0004g0024others(39): Show | 42 | 324 | 0.1296 | 0 | c.101 others(4): Show |
p.Cys others(6): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 13/23 | 1190/7093 | 1017/2337 | 339/778 | chr3 | TogoVar | ||
ACAP2_chr3_195269745_195448020 | 195342573 | G | C | synonymous_variant | LOW | HG03486.hp1 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0314 | 1 | 324 | 0.0031 | 0 | c.426 others(3): Show |
p.Ala others(6): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 6/23 | 599/7093 | 426/2337 | 142/778 | chr3 | TogoVar | ||
ACAP2_chr3_195269745_195448020 | 195342618 | G | A | synonymous_variant | LOW | HG00438.hp2 HG00558.hp2 HG00673.hp1 others(35): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0015others(2): Show | a0001c0002t0001g0043a0001c0002t0004g0004a0001c0002t0004g0024others(35): Show | 38 | 324 | 0.1173 | 0 | c.381 others(3): Show |
p.Phe others(6): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 6/23 | 554/7093 | 381/2337 | 127/778 | chr3 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1293624 | C | T | synonymous_variant | LOW | NA18522.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0047 | 1 | 295 | 0.0034 | 0 | c.244 others(4): Show |
p.Thr others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 24/24 | 2560/3793 | 2445/2505 | 815/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1293651 | G | A | synonymous_variant | LOW | HG00280.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0179 | 1 | 295 | 0.0034 | 0 | c.241 others(4): Show |
p.Pro others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 24/24 | 2533/3793 | 2418/2505 | 806/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1294158 | C | T | synonymous_variant | LOW | HG02293.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0192 | 1 | 295 | 0.0034 | 0 | c.218 others(4): Show |
p.Ala others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 22/24 | 2296/3793 | 2181/2505 | 727/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1294444 | C | T | synonymous_variant | LOW | HG02040.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0168 | 1 | 295 | 0.0034 | 0 | c.209 others(4): Show |
p.Ala others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 21/24 | 2212/3793 | 2097/2505 | 699/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1294480 | C | T | synonymous_variant | LOW | HG01168.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0197 | 1 | 295 | 0.0034 | 0 | c.206 others(4): Show |
p.Ala others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 21/24 | 2176/3793 | 2061/2505 | 687/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1294498 | A | C | synonymous_variant | LOW | HG02015.hp1 HG02155.hp2 NA18954.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0010a0001c0003t0002g0107a0001c0003t0002g0119others(1): Show | 6 | 295 | 0.0203 | 0 | c.204 others(4): Show |
p.Leu others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 21/24 | 2158/3793 | 2043/2505 | 681/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1295749 | G | A | synonymous_variant | LOW | NA19030.hp2 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0108 | 1 | 295 | 0.0034 | 0 | c.169 others(4): Show |
p.Ala others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 18/24 | 1807/3793 | 1692/2505 | 564/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1296276 | G | A | synonymous_variant | LOW | HG00544.hp1 HG01109.hp2 HG02015.hp2 others(27): Show |
a0001a0005a0007 | a0001c0002a0001c0005a0001c0021others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(4): Show | a0001c0002t0001g0021a0001c0002t0001g0043a0001c0002t0001g0044others(25): Show | 30 | 295 | 0.1017 | 0 | c.134 others(4): Show |
p.Leu others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 16/24 | 1457/3793 | 1342/2505 | 448/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1296451 | G | A | synonymous_variant | LOW | HG01943.hp2 | a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0133 | 1 | 295 | 0.0034 | 0 | c.131 others(4): Show |
p.Leu others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 15/24 | 1426/3793 | 1311/2505 | 437/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1296556 | G | A | synonymous_variant | LOW | HG01243.hp1 HG06807.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0212a0001c0007t0001g0213 | 2 | 295 | 0.0068 | 0 | c.120 others(4): Show |
p.Gly others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 15/24 | 1321/3793 | 1206/2505 | 402/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1298051 | G | A | synonymous_variant | LOW | NA19240.hp1 | a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0110 | 1 | 295 | 0.0034 | 0 | c.978 others(3): Show |
p.Ile others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 13/24 | 1093/3793 | 978/2505 | 326/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1299348 | C | A | synonymous_variant | LOW | HG02015.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0085 | 1 | 295 | 0.0034 | 0 | c.747 others(3): Show |
p.Leu others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 10/24 | 862/3793 | 747/2505 | 249/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1299888 | G | A | synonymous_variant | LOW | NA18956.hp2 NA18966.hp2 NA18983.hp1 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0022a0001c0005t0002g0089 | 3 | 295 | 0.0102 | 0 | c.681 others(3): Show |
p.Ile others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 9/24 | 796/3793 | 681/2505 | 227/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1300051 | G | A | synonymous_variant | LOW | HG03130.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0155 | 1 | 295 | 0.0034 | 0 | c.585 others(3): Show |
p.His others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 8/24 | 700/3793 | 585/2505 | 195/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1300590 | G | A | synonymous_variant | LOW | HG02055.hp1 | a0001 | a0001c0023 | a0001c0023t0006 | a0001c0023t0006g0218 | 1 | 295 | 0.0034 | 0 | c.441 others(3): Show |
p.Pro others(6): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 6/24 | 556/3793 | 441/2505 | 147/834 | chr1 | TogoVar | ||
ACAP3_chr1_1287391_1312930 | 1303177 | G | A | synonymous_variant | LOW | HG02615.hp1 | a0001 | a0001c0024 | a0001c0024t0006 | a0001c0024t0006g0072 | 1 | 295 | 0.0034 | 0 | c.210 others(3): Show |
p.Gly others(5): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3/24 | 325/3793 | 210/2505 | 70/834 | chr1 | TogoVar | ||
ACAT1_chr11_108116567_108152603 | 108121666 | G | C | synonymous_variant | LOW | HG02622.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0159 | 1 | 386 | 0.0026 | 0 | c.60G others(2): Show |
p.Arg others(5): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 1/12 | 100/1537 | 60/1284 | 20/427 | chr11 | TogoVar | ||
ACAT1_chr11_108116567_108152603 | 108138933 | C | A | synonymous_variant | LOW | HG00741.hp2 HG01081.hp1 HG01123.hp2 others(47): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003a0001c0003t0006 | a0001c0003t0001g0015a0001c0003t0001g0031a0001c0003t0001g0032others(36): Show | 50 | 386 | 0.1295 | 0 | c.471 others(3): Show |
p.Ser others(6): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 6/12 | 511/1537 | 471/1284 | 157/427 | chr11 | TogoVar | ||
ACAT1_chr11_108116567_108152603 | 108144020 | A | C | synonymous_variant | LOW | HG02895.hp2 HG02897.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0179a0001c0004t0001g0327a0001c0004t0001g0328others(1): Show | 4 | 386 | 0.0104 | 0 | c.978 others(3): Show |
p.Pro others(6): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 10/12 | 1018/1537 | 978/1284 | 326/427 | chr11 | TogoVar | ||
ACAT2_chr6_159757045_159784112 | 159775264 | T | G | synonymous_variant | LOW | HG02145.hp2 HG02809.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0008a0001c0005t0001g0058a0001c0005t0001g0081 | 8 | 404 | 0.0198 | 0 | c.585 others(3): Show |
p.Ala others(6): Show |
ACAT2 | ENSG00000120437.9 | transcript | ENST00000367048.5 | protein_coding | 5/9 | 628/1520 | 585/1194 | 195/397 | chr6 | TogoVar | ||
ACAT2_chr6_159757045_159784112 | 159777327 | C | T | synonymous_variant | LOW | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(119): Show |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0002a0001c0002t0004a0003c0007t0002 | a0001c0002t0002g0001a0001c0002t0002g0005a0001c0002t0002g0006others(34): Show | 122 | 404 | 0.3020 | 0 | c.783 others(3): Show |
p.Val others(6): Show |
ACAT2 | ENSG00000120437.9 | transcript | ENST00000367048.5 | protein_coding | 7/9 | 826/1520 | 783/1194 | 261/397 | chr6 | TogoVar | ||
ACAT2_chr6_159757045_159784112 | 159777363 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(85): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003a0002c0003t0001g0009a0002c0003t0001g0011others(35): Show | 88 | 404 | 0.2178 | 0 | c.819 others(3): Show |
p.Gly others(6): Show |
ACAT2 | ENSG00000120437.9 | transcript | ENST00000367048.5 | protein_coding | 7/9 | 862/1520 | 819/1194 | 273/397 | chr6 | TogoVar |