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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS17_chr15_99966437_100346975 | 100152640 | A | G | missense_variant | MODERATE | HG00140.hp1 HG01257.hp2 HG01258.hp2 others(25): Show |
a0005a0006a0007others(2): Show | a0005c0020a0005c0024a0005c0026others(15): Show | a0005c0020t0005a0005c0020t0017a0005c0024t0002others(21): Show | a0005c0020t0005g0220a0005c0020t0005g0221a0005c0020t0017g0198others(25): Show | 28 | 228 | 0.1228 | 0 | c.144 others(4): Show |
p.Met others(6): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 10/22 | 1521/6329 | 1445/3288 | 482/1095 | chr15 | TogoVar | ||
ADAMTS17_chr15_99966437_100346975 | 100152748 | G | A | missense_variant | MODERATE | HG00099.hp2 HG00280.hp2 NA20805.hp2 others(1): Show |
a0008a0009 | a0008c0058a0008c0067a0009c0027 | a0008c0058t0005a0008c0067t0004a0009c0027t0001 | a0008c0058t0005g0149a0008c0067t0004g0083a0009c0027t0001g0196others(1): Show | 4 | 228 | 0.0175 | 0 | c.133 others(4): Show |
p.Thr others(6): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 10/22 | 1413/6329 | 1337/3288 | 446/1095 | chr15 | TogoVar | ||
ADAMTS17_chr15_99966437_100346975 | 100261518 | T | A | missense_variant | MODERATE | HG03704.hp1 | a0013 | a0013c0044 | a0013c0044t0003 | a0013c0044t0003g0023 | 1 | 228 | 0.0044 | 0 | c.992 others(3): Show |
p.Asp others(6): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 6/22 | 1068/6329 | 992/3288 | 331/1095 | chr15 | TogoVar | ||
ADAMTS17_chr15_99966437_100346975 | 100281371 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(105): Show |
a0002a0004a0006others(4): Show | a0002c0001a0002c0004a0002c0011others(36): Show | a0002c0001t0002a0002c0001t0004a0002c0001t0005others(76): Show | a0002c0001t0002g0058a0002c0001t0002g0059a0002c0001t0002g0144others(105): Show | 108 | 228 | 0.4737 | 0 | c.647 others(3): Show |
p.Ser others(6): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/22 | 723/6329 | 647/3288 | 216/1095 | chr15 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77289338 | C | G | missense_variant | MODERATE | HG00408.hp1 HG00438.hp1 HG00621.hp2 others(64): Show |
a0003a0010a0012others(8): Show | a0003c0002a0010c0013a0010c0019others(11): Show | a0003c0002t0004a0003c0002t0006a0003c0002t0007others(25): Show | a0003c0002t0004g0167a0003c0002t0006g0013a0003c0002t0006g0015others(64): Show | 67 | 326 | 0.2055 | 0 | c.347 others(4): Show |
p.Ser others(7): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 22/23 | 3815/5833 | 3476/3666 | 1159/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77291360 | T | G | missense_variant | MODERATE | NA18946.hp2 | a0026 | a0026c0037 | a0026c0037t0028 | a0026c0037t0028g0144 | 1 | 326 | 0.0031 | 0 | c.330 others(4): Show |
p.Asn others(7): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 21/23 | 3647/5833 | 3308/3666 | 1103/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77291406 | G | T | missense_variant | MODERATE | HG02809.hp2 | a0038 | a0038c0053 | a0038c0053t0019 | a0038c0053t0019g0069 | 1 | 326 | 0.0031 | 0 | c.326 others(4): Show |
p.Leu others(7): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 21/23 | 3601/5833 | 3262/3666 | 1088/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77291428 | G | T | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(51): Show |
a0005a0009a0014others(6): Show | a0005c0004a0005c0022a0005c0052others(8): Show | a0005c0004t0001a0005c0004t0015a0005c0004t0054others(14): Show | a0005c0004t0001g0027a0005c0004t0001g0156a0005c0004t0001g0161others(51): Show | 54 | 326 | 0.1656 | 0 | c.324 others(4): Show |
p.Ser others(7): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 21/23 | 3579/5833 | 3240/3666 | 1080/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77293093 | C | T | missense_variant | MODERATE | HG02895.hp1 HG02897.hp2 |
a0024 | a0024c0032 | a0024c0032t0018 | a0024c0032t0018g0175a0024c0032t0018g0176 | 2 | 326 | 0.0061 | 0 | c.317 others(4): Show |
p.Ala others(7): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 20/23 | 3511/5833 | 3172/3666 | 1058/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77294975 | G | C | missense_variant | MODERATE | HG01243.hp1 NA20752.hp1 |
a0027a0039 | a0027c0038a0039c0054 | a0027c0038t0007a0039c0054t0007 | a0027c0038t0007g0188a0039c0054t0007g0257 | 2 | 326 | 0.0061 | 0 | c.295 others(4): Show |
p.Ala others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 19/23 | 3293/5833 | 2954/3666 | 985/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77295021 | C | T | missense_variant | MODERATE | NA18994.hp2 | a0028 | a0028c0039 | a0028c0039t0003 | a0028c0039t0003g0262 | 1 | 326 | 0.0031 | 0 | c.290 others(4): Show |
p.Val others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 19/23 | 3247/5833 | 2908/3666 | 970/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77295093 | C | A | missense_variant | MODERATE | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(38): Show |
a0006a0008a0018others(4): Show | a0006c0005a0006c0061a0008c0008others(7): Show | a0006c0005t0003a0006c0005t0012a0006c0005t0037others(10): Show | a0006c0005t0003g0032a0006c0005t0003g0036a0006c0005t0003g0077others(38): Show | 41 | 326 | 0.1258 | 0 | c.283 others(4): Show |
p.Ala others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 19/23 | 3175/5833 | 2836/3666 | 946/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77300296 | C | T | missense_variant | MODERATE | NA20129.hp1 | a0036 | a0036c0049 | a0036c0049t0004 | a0036c0049t0004g0030 | 1 | 326 | 0.0031 | 0 | c.264 others(4): Show |
p.Val others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 17/23 | 2980/5833 | 2641/3666 | 881/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77300396 | C | A | missense_variant | MODERATE | HG02647.hp1 HG02818.hp1 HG03453.hp2 others(1): Show |
a0019a0022 | a0019c0026a0022c0030 | a0019c0026t0002a0022c0030t0002a0022c0030t0049 | a0019c0026t0002g0053a0019c0026t0002g0312a0022c0030t0002g0315others(1): Show | 4 | 326 | 0.0123 | 0 | c.254 others(4): Show |
p.Met others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 17/23 | 2880/5833 | 2541/3666 | 847/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77319893 | G | A | missense_variant | MODERATE | HG01106.hp2 | a0035 | a0035c0051 | a0035c0051t0007 | a0035c0051t0007g0185 | 1 | 326 | 0.0031 | 0 | c.248 others(4): Show |
p.Arg others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/23 | 2827/5833 | 2488/3666 | 830/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77319905 | T | G | missense_variant | MODERATE | HG01256.hp1 HG01258.hp2 HG02738.hp2 |
a0023a0040 | a0023c0034a0040c0064 | a0023c0034t0009a0040c0064t0001 | a0023c0034t0009g0252a0023c0034t0009g0253a0040c0064t0001g0208 | 3 | 326 | 0.0092 | 0 | c.247 others(4): Show |
p.Asn others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/23 | 2815/5833 | 2476/3666 | 826/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77320076 | G | T | missense_variant | MODERATE | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(239): Show |
a0001a0003a0004others(27): Show | a0001c0001a0001c0016a0001c0023others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(94): Show | a0001c0001t0001g0119a0001c0001t0002g0001a0001c0001t0002g0025others(238): Show | 242 | 326 | 0.7423 | 0 | c.230 others(4): Show |
p.Leu others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/23 | 2644/5833 | 2305/3666 | 769/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77325877 | G | A | missense_variant | MODERATE | HG03139.hp1 | a0025 | a0025c0041 | a0025c0041t0002 | a0025c0041t0002g0231 | 1 | 326 | 0.0031 | 0 | c.202 others(4): Show |
p.Thr others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 13/23 | 2360/5833 | 2021/3666 | 674/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77326022 | A | T | missense_variant | MODERATE | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(184): Show |
a0001a0003a0006others(16): Show | a0001c0001a0001c0016a0001c0023others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(62): Show | a0001c0001t0001g0119a0001c0001t0002g0001a0001c0001t0002g0025others(183): Show | 187 | 326 | 0.5736 | 0 | c.187 others(4): Show |
p.Leu others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 13/23 | 2215/5833 | 1876/3666 | 626/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77335835 | C | T | missense_variant | MODERATE | HG01070.hp2 NA19006.hp1 |
a0031a0032 | a0031c0036a0032c0045 | a0031c0036t0006a0032c0045t0006 | a0031c0036t0006g0292a0032c0045t0006g0206 | 2 | 326 | 0.0061 | 0 | c.178 others(4): Show |
p.Ala others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/23 | 2119/5833 | 1780/3666 | 594/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77335879 | T | G | missense_variant | MODERATE | NA19006.hp1 | a0032 | a0032c0045 | a0032c0045t0006 | a0032c0045t0006g0206 | 1 | 326 | 0.0031 | 0 | c.173 others(4): Show |
p.Lys others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/23 | 2075/5833 | 1736/3666 | 579/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77353842 | C | T | missense_variant | MODERATE | HG00544.hp2 | a0034 | a0034c0048 | a0034c0048t0002 | a0034c0048t0002g0078 | 1 | 326 | 0.0031 | 0 | c.150 others(4): Show |
p.Gly others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 10/23 | 1844/5833 | 1505/3666 | 502/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77355994 | T | C | missense_variant | MODERATE | HG02895.hp1 HG02897.hp2 |
a0024 | a0024c0032 | a0024c0032t0018 | a0024c0032t0018g0175a0024c0032t0018g0176 | 2 | 326 | 0.0061 | 0 | c.140 others(4): Show |
p.Asn others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 9/23 | 1745/5833 | 1406/3666 | 469/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77367527 | T | G | missense_variant | MODERATE | HG02055.hp2 | a0033 | a0033c0047 | a0033c0047t0005 | a0033c0047t0005g0162 | 1 | 326 | 0.0031 | 0 | c.692 others(3): Show |
p.His others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 4/23 | 1031/5833 | 692/3666 | 231/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77367566 | G | C | missense_variant | MODERATE | HG02055.hp2 | a0033 | a0033c0047 | a0033c0047t0005 | a0033c0047t0005g0162 | 1 | 326 | 0.0031 | 0 | c.653 others(3): Show |
p.Pro others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 4/23 | 992/5833 | 653/3666 | 218/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77367618 | C | T | missense_variant | MODERATE | HG03041.hp1 HG03139.hp2 |
a0021 | a0021c0028 | a0021c0028t0031a0021c0028t0052 | a0021c0028t0031g0306a0021c0028t0052g0322 | 2 | 326 | 0.0061 | 0 | c.601 others(3): Show |
p.Val others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 4/23 | 940/5833 | 601/3666 | 201/1221 | chr16 | TogoVar | ||
ADAMTS18_chr16_77277128_77440034 | 77367648 | A | G | missense_variant | MODERATE | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(139): Show |
a0001a0003a0008others(15): Show | a0001c0001a0001c0016a0001c0023others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0119a0001c0001t0002g0001a0001c0001t0002g0025others(138): Show | 142 | 326 | 0.4356 | 0 | c.571 others(3): Show |
p.Tyr others(6): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 4/23 | 910/5833 | 571/3666 | 191/1221 | chr16 | TogoVar | ||
ADAMTS19_chr5_129455298_129743683 | 129461341 | C | G | missense_variant | MODERATE | HG02145.hp1 | a0005 | a0005c0023 | a0005c0023t0003 | a0005c0023t0003g0155 | 1 | 226 | 0.0044 | 0 | c.331 others(3): Show |
p.Pro others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/23 | 425/5201 | 331/3642 | 111/1213 | chr5 | TogoVar | ||
ADAMTS19_chr5_129455298_129743683 | 129461456 | C | T | missense_variant | MODERATE | NA20129.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0109 | 1 | 226 | 0.0044 | 0 | c.446 others(3): Show |
p.Pro others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/23 | 540/5201 | 446/3642 | 149/1213 | chr5 | TogoVar | ||
ADAMTS19_chr5_129455298_129743683 | 129461632 | G | A | missense_variant | MODERATE | HG02486.hp1 HG02559.hp1 HG02970.hp2 |
a0004 | a0004c0007 | a0004c0007t0008a0004c0007t0012 | a0004c0007t0008g0026a0004c0007t0008g0027a0004c0007t0012g0028 | 3 | 226 | 0.0133 | 0 | c.622 others(3): Show |
p.Gly others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 2/23 | 716/5201 | 622/3642 | 208/1213 | chr5 | TogoVar | ||
ADAMTS19_chr5_129455298_129743683 | 129527778 | A | G | missense_variant | MODERATE | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(222): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(221): Show | 225 | 226 | 0.9956 | 0 | c.111 others(4): Show |
p.Ser others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 5/23 | 1211/5201 | 1117/3642 | 373/1213 | chr5 | TogoVar | ||
ADAMTS19_chr5_129455298_129743683 | 129622206 | C | T | missense_variant | MODERATE | HG02071.hp2 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0141 | 1 | 226 | 0.0044 | 0 | c.162 others(4): Show |
p.Ala others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 10/23 | 1722/5201 | 1628/3642 | 543/1213 | chr5 | TogoVar | ||
ADAMTS19_chr5_129455298_129743683 | 129622233 | C | T | missense_variant | MODERATE | HG02055.hp1 | a0007 | a0007c0017 | a0007c0017t0002 | a0007c0017t0002g0036 | 1 | 226 | 0.0044 | 0 | c.165 others(4): Show |
p.Pro others(6): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 10/23 | 1749/5201 | 1655/3642 | 552/1213 | chr5 | TogoVar | ||
ADAMTS19_chr5_129455298_129743683 | 129704363 | A | T | missense_variant | MODERATE | HG00642.hp2 HG01169.hp2 HG01192.hp2 others(4): Show |
a0003 | a0003c0005a0003c0021 | a0003c0005t0001a0003c0021t0001 | a0003c0005t0001g0004a0003c0005t0001g0130a0003c0005t0001g0132others(4): Show | 7 | 226 | 0.0310 | 0 | c.328 others(4): Show |
p.Tyr others(7): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/23 | 3378/5201 | 3284/3642 | 1095/1213 | chr5 | TogoVar | ||
ADAMTS19_chr5_129455298_129743683 | 129735010 | G | A | missense_variant | MODERATE | HG01978.hp2 | a0008 | a0008c0020 | a0008c0020t0001 | a0008c0020t0001g0207 | 1 | 226 | 0.0044 | 0 | c.339 others(4): Show |
p.Glu others(7): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 22/23 | 3485/5201 | 3391/3642 | 1131/1213 | chr5 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26837667 | T | C | missense_variant | MODERATE | NA18956.hp1 | a0009 | a0009c0016 | a0009c0016t0078 | a0009c0016t0078g0188 | 1 | 480 | 0.0021 | 0 | c.281 others(4): Show |
p.Asp others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 9/9 | 3271/5183 | 2816/2904 | 939/967 | chr21 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26838535 | C | T | missense_variant | MODERATE | HG00544.hp1 HG00597.hp2 HG00609.hp2 others(38): Show |
a0003a0004 | a0003c0004a0003c0010a0004c0007 | a0003c0004t0002a0003c0004t0004a0003c0004t0006others(12): Show | a0003c0004t0002g0012a0003c0004t0004g0009a0003c0004t0004g0190others(14): Show | 41 | 480 | 0.0854 | 0 | c.210 others(4): Show |
p.Arg others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 8/9 | 2563/5183 | 2108/2904 | 703/967 | chr21 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26839724 | C | T | missense_variant | MODERATE | HG03139.hp1 | a0012 | a0012c0019 | a0012c0019t0001 | a0012c0019t0001g0073 | 1 | 480 | 0.0021 | 0 | c.189 others(4): Show |
p.Glu others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 7/9 | 2346/5183 | 1891/2904 | 631/967 | chr21 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26840001 | C | T | missense_variant | MODERATE | HG01175.hp1 | a0013 | a0013c0018 | a0013c0018t0055 | a0013c0018t0055g0082 | 1 | 480 | 0.0021 | 0 | c.172 others(4): Show |
p.Gly others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 6/9 | 2181/5183 | 1726/2904 | 576/967 | chr21 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26840532 | G | A | missense_variant | MODERATE | NA18989.hp2 | a0011 | a0011c0020 | a0011c0020t0010 | a0011c0020t0010g0123 | 1 | 480 | 0.0021 | 0 | c.140 others(4): Show |
p.Pro others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 5/9 | 1864/5183 | 1409/2904 | 470/967 | chr21 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26840542 | G | C | missense_variant | MODERATE | NA18987.hp1 NA19005.hp1 |
a0008a0010 | a0008c0022a0010c0021 | a0008c0022t0001a0010c0021t0001 | a0008c0022t0001g0158a0010c0021t0001g0124 | 2 | 480 | 0.0042 | 0 | c.139 others(4): Show |
p.Pro others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 5/9 | 1854/5183 | 1399/2904 | 467/967 | chr21 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26844260 | T | A | missense_variant | MODERATE | NA18992.hp1 | a0007 | a0007c0013 | a0007c0013t0036 | a0007c0013t0036g0061 | 1 | 480 | 0.0021 | 0 | c.695 others(3): Show |
p.Gln others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | 1150/5183 | 695/2904 | 232/967 | chr21 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26844276 | C | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(286): Show |
a0001a0004a0006others(8): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(74): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(133): Show | 289 | 480 | 0.6021 | 0 | c.679 others(3): Show |
p.Ala others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | 1134/5183 | 679/2904 | 227/967 | chr21 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26844369 | C | A | missense_variant | MODERATE | NA19005.hp1 | a0008 | a0008c0022 | a0008c0022t0001 | a0008c0022t0001g0158 | 1 | 480 | 0.0021 | 0 | c.586 others(3): Show |
p.Gly others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | 1041/5183 | 586/2904 | 196/967 | chr21 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26844543 | C | A | missense_variant | MODERATE | HG02293.hp2 | a0014 | a0014c0025 | a0014c0025t0001 | a0014c0025t0001g0161 | 1 | 480 | 0.0021 | 0 | c.412 others(3): Show |
p.Ala others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | 867/5183 | 412/2904 | 138/967 | chr21 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26844611 | A | T | missense_variant | MODERATE | NA18992.hp1 | a0007 | a0007c0013 | a0007c0013t0036 | a0007c0013t0036g0061 | 1 | 480 | 0.0021 | 0 | c.344 others(3): Show |
p.Leu others(6): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | 799/5183 | 344/2904 | 115/967 | chr21 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26844740 | C | T | missense_variant | MODERATE | HG02683.hp1 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0066 | 1 | 480 | 0.0021 | 0 | c.215 others(3): Show |
p.Gly others(5): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | 670/5183 | 215/2904 | 72/967 | chr21 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26844797 | G | C | missense_variant | MODERATE | NA19007.hp1 | a0015 | a0015c0026 | a0015c0026t0045 | a0015c0026t0045g0162 | 1 | 480 | 0.0021 | 0 | c.158 others(3): Show |
p.Pro others(5): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | 613/5183 | 158/2904 | 53/967 | chr21 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26844864 | C | T | missense_variant | MODERATE | NA18943.hp2 NA18960.hp1 |
a0005 | a0005c0008 | a0005c0008t0017 | a0005c0008t0017g0051 | 2 | 480 | 0.0042 | 0 | c.91G others(2): Show |
p.Gly others(5): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | 546/5183 | 91/2904 | 31/967 | chr21 | TogoVar | ||
ADAMTS1_chr21_26830755_26850409 | 26844894 | C | T | missense_variant | MODERATE | HG00597.hp1 | a0016 | a0016c0012 | a0016c0012t0003 | a0016c0012t0003g0065 | 1 | 480 | 0.0021 | 0 | c.61G others(2): Show |
p.Ala others(5): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | 516/5183 | 61/2904 | 21/967 | chr21 | TogoVar |