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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1BG_chr19_58340183_58358492 | 58350497 | G | T | synonymous_variant | LOW | NA18939.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0062 | 1 | 386 | 0.0026 | 0 | c.106 others(4): Show |
p.Thr others(6): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 6/8 | 1120/3382 | 1065/1488 | 355/495 | chr19 | TogoVar | ||
A1BG_chr19_58340183_58358492 | 58353016 | C | T | synonymous_variant | LOW | HG03239.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0038 | 1 | 386 | 0.0026 | 0 | c.252 others(3): Show |
p.Thr others(5): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 3/8 | 307/3382 | 252/1488 | 84/495 | chr19 | TogoVar | ||
A1CF_chr10_50794409_50890627 | 50806834 | G | C | synonymous_variant | LOW | HG00280.hp2 HG00558.hp2 HG01346.hp1 others(17): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007a0001c0003t0047 | a0001c0003t0001g0009a0001c0003t0001g0025a0001c0003t0001g0067others(14): Show | 20 | 338 | 0.0592 | 0 | c.165 others(4): Show |
p.Leu others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | 1796/9221 | 1656/1761 | 552/586 | chr10 | TogoVar | ||
A1CF_chr10_50794409_50890627 | 50809991 | C | T | synonymous_variant | LOW | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0255a0001c0009t0004g0257 | 2 | 338 | 0.0059 | 0 | c.151 others(4): Show |
p.Thr others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 12/13 | 1652/9221 | 1512/1761 | 504/586 | chr10 | TogoVar | ||
A1CF_chr10_50794409_50890627 | 50813938 | G | A | synonymous_variant | LOW | HG00423.hp2 HG00597.hp2 HG00621.hp1 others(35): Show |
a0001 | a0001c0002a0001c0009a0001c0012 | a0001c0002t0004a0001c0002t0013a0001c0009t0004others(1): Show | a0001c0002t0004g0002a0001c0002t0004g0019a0001c0002t0004g0036others(30): Show | 38 | 338 | 0.1124 | 0 | c.124 others(4): Show |
p.Leu others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 10/13 | 1382/9221 | 1242/1761 | 414/586 | chr10 | TogoVar | ||
A1CF_chr10_50794409_50890627 | 50816244 | T | G | synonymous_variant | LOW | NA18946.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0184 | 1 | 338 | 0.0030 | 0 | c.903 others(3): Show |
p.Ala others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 9/13 | 1043/9221 | 903/1761 | 301/586 | chr10 | TogoVar | ||
A1CF_chr10_50794409_50890627 | 50836093 | C | T | synonymous_variant | LOW | HG02451.hp2 HG02897.hp2 NA18906.hp1 others(2): Show |
a0001a0002 | a0001c0008a0002c0006 | a0001c0008t0001a0001c0008t0017a0002c0006t0006 | a0001c0008t0001g0039a0001c0008t0017g0042a0002c0006t0006g0044others(2): Show | 5 | 338 | 0.0148 | 0 | c.585 others(3): Show |
p.Ala others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 6/13 | 725/9221 | 585/1761 | 195/586 | chr10 | TogoVar | ||
A1CF_chr10_50794409_50890627 | 50836150 | G | T | synonymous_variant | LOW | HG02258.hp2 HG03516.hp2 |
a0001 | a0001c0007 | a0001c0007t0005a0001c0007t0033 | a0001c0007t0005g0244a0001c0007t0033g0245 | 2 | 338 | 0.0059 | 0 | c.528 others(3): Show |
p.Thr others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 6/13 | 668/9221 | 528/1761 | 176/586 | chr10 | TogoVar | ||
A1CF_chr10_50794409_50890627 | 50836216 | C | T | synonymous_variant | LOW | HG02559.hp1 HG02717.hp1 HG03453.hp2 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0024a0001c0005t0048 | a0001c0005t0001g0207a0001c0005t0024g0208a0001c0005t0048g0209 | 3 | 338 | 0.0089 | 0 | c.462 others(3): Show |
p.Ser others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 6/13 | 602/9221 | 462/1761 | 154/586 | chr10 | TogoVar | ||
A1CF_chr10_50794409_50890627 | 50859911 | T | G | synonymous_variant | LOW | HG03225.hp2 | a0001 | a0001c0012 | a0001c0012t0034 | a0001c0012t0034g0154 | 1 | 338 | 0.0030 | 0 | c.30A others(2): Show |
p.Gly others(5): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/13 | 170/9221 | 30/1761 | 10/586 | chr10 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8823305 | C | T | synonymous_variant | LOW | HG00544.hp2 HG00597.hp2 HG00609.hp1 others(54): Show |
a0001a0002a0003others(8): Show | a0001c0006a0001c0008a0001c0068others(14): Show | a0001c0006t0002a0001c0008t0001a0001c0008t0002others(20): Show | a0001c0006t0002g0009a0001c0006t0002g0010a0001c0006t0002g0226others(53): Show | 57 | 368 | 0.1549 | 0 | c.186 others(3): Show |
p.Thr others(5): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 2/36 | 217/5127 | 186/4365 | 62/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8823315 | C | T | synonymous_variant | LOW | NA21309.hp2 | a0001 | a0001c0060 | a0001c0060t0002 | a0001c0060t0002g0070 | 1 | 368 | 0.0027 | 0 | c.196 others(3): Show |
p.Leu others(5): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 2/36 | 227/5127 | 196/4365 | 66/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8823359 | C | A | synonymous_variant | LOW | NA18956.hp2 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0189 | 1 | 368 | 0.0027 | 0 | c.240 others(3): Show |
p.Ser others(5): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 2/36 | 271/5127 | 240/4365 | 80/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8835656 | G | A | synonymous_variant | LOW | HG01261.hp2 HG02717.hp1 NA20300.hp2 |
a0004a0032 | a0004c0040a0004c0042a0032c0041 | a0004c0040t0004a0004c0042t0002a0032c0041t0001 | a0004c0040t0004g0219a0004c0042t0002g0013a0032c0041t0001g0221 | 3 | 368 | 0.0082 | 0 | c.633 others(3): Show |
p.Val others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 6/36 | 664/5127 | 633/4365 | 211/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8841389 | T | C | synonymous_variant | LOW | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(9): Show |
a0008a0017a0039others(1): Show | a0008c0012a0008c0024a0008c0038others(3): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(5): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(9): Show | 12 | 368 | 0.0326 | 0 | c.110 others(4): Show |
p.Asp others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/36 | 1132/5127 | 1101/4365 | 367/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8843160 | A | G | synonymous_variant | LOW | HG00639.hp2 HG01255.hp1 HG01261.hp1 others(7): Show |
a0003 | a0003c0010a0003c0071 | a0003c0010t0003a0003c0071t0003 | a0003c0010t0003g0003a0003c0010t0003g0049a0003c0010t0003g0078others(6): Show | 10 | 368 | 0.0272 | 0 | c.127 others(4): Show |
p.Val others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 12/36 | 1306/5127 | 1275/4365 | 425/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8847551 | T | G | splice_region_variant others(1): Show |
LOW | HG03225.hp2 NA21309.hp1 |
a0002a0016 | a0002c0061a0016c0043 | a0002c0061t0004a0016c0043t0002 | a0002c0061t0004g0314a0016c0043t0002g0126 | 2 | 368 | 0.0054 | 0 | c.168 others(4): Show |
p.Val others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 15/36 | 1717/5127 | 1686/4365 | 562/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8851844 | G | A | synonymous_variant | LOW | HG02055.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
a0001a0004a0012others(1): Show | a0001c0046a0004c0045a0012c0022others(1): Show | a0001c0046t0001a0004c0045t0004a0012c0022t0007others(1): Show | a0001c0046t0001g0236a0004c0045t0004g0123a0012c0022t0007g0018others(3): Show | 6 | 368 | 0.0163 | 0 | c.229 others(4): Show |
p.Ala others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | 2326/5127 | 2295/4365 | 765/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8851916 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(332): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0006others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(326): Show | 335 | 368 | 0.9103 | 0 | c.236 others(4): Show |
p.Pro others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | 2398/5127 | 2367/4365 | 789/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8854243 | C | T | synonymous_variant | LOW | HG03927.hp1 | a0001 | a0001c0068 | a0001c0068t0002 | a0001c0068t0002g0333 | 1 | 368 | 0.0027 | 0 | c.270 others(4): Show |
p.Leu others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 21/36 | 2737/5127 | 2706/4365 | 902/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8857183 | C | T | synonymous_variant | LOW | HG01192.hp1 | a0004 | a0004c0053 | a0004c0053t0004 | a0004c0053t0004g0344 | 1 | 368 | 0.0027 | 0 | c.286 others(4): Show |
p.Ala others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 24/36 | 2899/5127 | 2868/4365 | 956/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8858075 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00423.hp2 HG00609.hp2 others(68): Show |
a0002a0003a0004others(5): Show | a0002c0004a0002c0007a0003c0005others(12): Show | a0002c0004t0001a0002c0004t0003a0002c0007t0001others(17): Show | a0002c0004t0001g0299a0002c0004t0001g0338a0002c0004t0003g0002others(65): Show | 71 | 368 | 0.1929 | 0 | c.323 others(4): Show |
p.Val others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 26/36 | 3268/5127 | 3237/4365 | 1079/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8867967 | T | C | synonymous_variant | LOW | HG01167.hp2 HG01168.hp1 HG01169.hp1 others(19): Show |
a0004a0010a0015others(4): Show | a0004c0014a0004c0029a0004c0040others(11): Show | a0004c0014t0004a0004c0029t0004a0004c0040t0004others(11): Show | a0004c0014t0004g0159a0004c0014t0004g0215a0004c0014t0004g0237others(18): Show | 22 | 368 | 0.0598 | 0 | c.384 others(4): Show |
p.Val others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 30/36 | 3874/5127 | 3843/4365 | 1281/1454 | chr12 | TogoVar | ||
A2ML1_chr12_8817621_8881787 | 8868316 | A | G | synonymous_variant | LOW | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(240): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0008a0001c0035others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(235): Show | 243 | 368 | 0.6603 | 0 | c.402 others(4): Show |
p.Gln others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 31/36 | 4051/5127 | 4020/4365 | 1340/1454 | chr12 | TogoVar | ||
A2M_chr12_9062708_9120919 | 9074626 | A | G | synonymous_variant | LOW | NA18962.hp1 NA18981.hp1 NA19083.hp1 |
a0001a0007 | a0001c0011a0007c0027 | a0001c0011t0001a0007c0027t0001 | a0001c0011t0001g0264a0001c0011t0001g0266a0007c0027t0001g0277 | 3 | 332 | 0.0090 | 0 | c.369 others(4): Show |
p.Ser others(7): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 29/36 | 3760/4610 | 3690/4425 | 1230/1474 | chr12 | TogoVar | ||
A2M_chr12_9062708_9120919 | 9076832 | A | G | synonymous_variant | LOW | HG03130.hp1 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0039 | 1 | 332 | 0.0030 | 0 | c.345 others(4): Show |
p.Tyr others(7): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/36 | 3526/4610 | 3456/4425 | 1152/1474 | chr12 | TogoVar | ||
A2M_chr12_9062708_9120919 | 9079273 | C | T | synonymous_variant | LOW | HG00639.hp1 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0076 | 1 | 332 | 0.0030 | 0 | c.309 others(4): Show |
p.Glu others(7): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 25/36 | 3160/4610 | 3090/4425 | 1030/1474 | chr12 | TogoVar | ||
A2M_chr12_9062708_9120919 | 9080170 | C | T | synonymous_variant | LOW | HG03688.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0258 | 1 | 332 | 0.0030 | 0 | c.277 others(4): Show |
p.Glu others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 23/36 | 2848/4610 | 2778/4425 | 926/1474 | chr12 | TogoVar | ||
A2M_chr12_9062708_9120919 | 9089962 | C | T | synonymous_variant | LOW | HG03669.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0236 | 1 | 332 | 0.0030 | 0 | c.265 others(4): Show |
p.Glu others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 21/36 | 2728/4610 | 2658/4425 | 886/1474 | chr12 | TogoVar | ||
A2M_chr12_9062708_9120919 | 9090420 | C | T | synonymous_variant | LOW | HG01169.hp2 HG02809.hp2 HG02895.hp2 others(1): Show |
a0001a0002a0013 | a0001c0015a0002c0010a0013c0016 | a0001c0015t0002a0002c0010t0002a0013c0016t0002 | a0001c0015t0002g0040a0002c0010t0002g0138a0002c0010t0002g0140others(1): Show | 4 | 332 | 0.0121 | 0 | c.253 others(4): Show |
p.Ala others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 20/36 | 2602/4610 | 2532/4425 | 844/1474 | chr12 | TogoVar | ||
A2M_chr12_9062708_9120919 | 9098613 | C | T | synonymous_variant | LOW | HG02145.hp2 HG03540.hp2 |
a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0082a0001c0009t0002g0083 | 2 | 332 | 0.0060 | 0 | c.184 others(4): Show |
p.Ala others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/36 | 1915/4610 | 1845/4425 | 615/1474 | chr12 | TogoVar | ||
A2M_chr12_9062708_9120919 | 9101630 | C | T | synonymous_variant | LOW | HG02559.hp2 HG02622.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0019a0001c0005t0002g0134a0001c0005t0002g0135others(3): Show | 7 | 332 | 0.0211 | 0 | c.131 others(4): Show |
p.Val others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 12/36 | 1381/4610 | 1311/4425 | 437/1474 | chr12 | TogoVar | ||
A2M_chr12_9062708_9120919 | 9101645 | G | A | synonymous_variant | LOW | HG00639.hp1 HG01070.hp2 HG01071.hp2 others(9): Show |
a0001 | a0001c0003a0001c0021 | a0001c0003t0002a0001c0021t0002 | a0001c0003t0002g0003a0001c0003t0002g0014a0001c0003t0002g0048others(5): Show | 12 | 332 | 0.0361 | 0 | c.129 others(4): Show |
p.Tyr others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 12/36 | 1366/4610 | 1296/4425 | 432/1474 | chr12 | TogoVar | ||
A2M_chr12_9062708_9120919 | 9104350 | G | A | synonymous_variant | LOW | HG03130.hp1 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0039 | 1 | 332 | 0.0030 | 0 | c.115 others(4): Show |
p.Phe others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/36 | 1225/4610 | 1155/4425 | 385/1474 | chr12 | TogoVar | ||
A2M_chr12_9062708_9120919 | 9112420 | G | C | synonymous_variant | LOW | HG01074.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0219 | 1 | 332 | 0.0030 | 0 | c.387 others(3): Show |
p.Val others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 3/36 | 457/4610 | 387/4425 | 129/1474 | chr12 | TogoVar | ||
A3GALT2_chr1_33301766_33326098 | 33307279 | T | C | synonymous_variant | LOW | HG02886.hp1 NA19030.hp2 |
a0001 | a0001c0006 | a0001c0006t0000 | a0001c0006t0000g0049a0001c0006t0000g0050 | 2 | 418 | 0.0048 | 0 | c.510 others(3): Show |
p.Gln others(6): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 5/5 | 510/1023 | 510/1023 | 170/340 | chr1 | TogoVar | ||
A3GALT2_chr1_33301766_33326098 | 33312539 | G | A | synonymous_variant | LOW | HG03516.hp2 | a0001 | a0001c0014 | a0001c0014t0000 | a0001c0014t0000g0160 | 1 | 418 | 0.0024 | 0 | c.159 others(3): Show |
p.Ser others(5): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 3/5 | 159/1023 | 159/1023 | 53/340 | chr1 | TogoVar | ||
A3GALT2_chr1_33301766_33326098 | 33312563 | G | A | synonymous_variant | LOW | HG02451.hp2 | a0001 | a0001c0015 | a0001c0015t0000 | a0001c0015t0000g0145 | 1 | 418 | 0.0024 | 0 | c.135 others(3): Show |
p.Gly others(5): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 3/5 | 135/1023 | 135/1023 | 45/340 | chr1 | TogoVar | ||
A4GALT_chr22_42687121_42725870 | 42692965 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(117): Show |
a0002a0005a0006 | a0002c0003a0002c0008a0005c0006others(1): Show | a0002c0003t0001a0002c0003t0004a0002c0003t0008others(4): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009others(112): Show | 120 | 406 | 0.2956 | 0 | c.987 others(3): Show |
p.Thr others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 1248/2092 | 987/1062 | 329/353 | chr22 | TogoVar | ||
A4GALT_chr22_42687121_42725870 | 42693022 | G | A | synonymous_variant | LOW | HG02738.hp1 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0294 | 1 | 406 | 0.0025 | 0 | c.930 others(3): Show |
p.Ala others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 1191/2092 | 930/1062 | 310/353 | chr22 | TogoVar | ||
A4GALT_chr22_42687121_42725870 | 42693049 | G | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(280): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0007a0001c0009others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(19): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(273): Show | 283 | 406 | 0.6970 | 0 | c.903 others(3): Show |
p.Pro others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 1164/2092 | 903/1062 | 301/353 | chr22 | TogoVar | ||
A4GALT_chr22_42687121_42725870 | 42693283 | G | A | synonymous_variant | LOW | HG02145.hp2 HG02280.hp1 HG02965.hp1 others(1): Show |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0212a0002c0008t0001g0270a0002c0008t0001g0346others(1): Show | 4 | 406 | 0.0099 | 0 | c.669 others(3): Show |
p.Phe others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 930/2092 | 669/1062 | 223/353 | chr22 | TogoVar | ||
A4GALT_chr22_42687121_42725870 | 42693394 | G | A | synonymous_variant | LOW | HG01069.hp1 HG01071.hp1 HG01346.hp2 |
a0001 | a0001c0010 | a0001c0010t0009 | a0001c0010t0009g0251a0001c0010t0009g0258a0001c0010t0009g0259 | 3 | 406 | 0.0074 | 0 | c.558 others(3): Show |
p.Phe others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 819/2092 | 558/1062 | 186/353 | chr22 | TogoVar | ||
A4GALT_chr22_42687121_42725870 | 42693511 | C | T | synonymous_variant | LOW | HG01109.hp1 HG03209.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0265a0001c0007t0004g0266a0001c0007t0004g0271others(1): Show | 4 | 406 | 0.0099 | 0 | c.441 others(3): Show |
p.Arg others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 702/2092 | 441/1062 | 147/353 | chr22 | TogoVar | ||
A4GALT_chr22_42687121_42725870 | 42693652 | C | G | synonymous_variant | LOW | HG00738.hp2 HG01891.hp2 HG02615.hp1 others(6): Show |
a0001a0004 | a0001c0009a0004c0005 | a0001c0009t0013a0004c0005t0010 | a0001c0009t0013g0213a0001c0009t0013g0364a0001c0009t0013g0384others(6): Show | 9 | 406 | 0.0222 | 0 | c.300 others(3): Show |
p.Ser others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 561/2092 | 300/1062 | 100/353 | chr22 | TogoVar | ||
A4GALT_chr22_42687121_42725870 | 42693751 | G | C | synonymous_variant | LOW | HG00741.hp1 | a0001 | a0001c0012 | a0001c0012t0005 | a0001c0012t0005g0378 | 1 | 406 | 0.0025 | 0 | c.201 others(3): Show |
p.Pro others(5): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 462/2092 | 201/1062 | 67/353 | chr22 | TogoVar | ||
A4GNT_chr3_138118713_138137390 | 138124441 | A | G | synonymous_variant | LOW | HG02055.hp2 HG02257.hp1 HG02559.hp2 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0018a0002c0005t0002g0067 | 4 | 398 | 0.0101 | 0 | c.846 others(3): Show |
p.Asn others(6): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 3/3 | 1051/1779 | 846/1023 | 282/340 | chr3 | TogoVar | ||
A4GNT_chr3_138118713_138137390 | 138124654 | A | G | synonymous_variant | LOW | NA18957.hp1 | a0001 | a0001c0012 | a0001c0012t0005 | a0001c0012t0005g0058 | 1 | 398 | 0.0025 | 0 | c.633 others(3): Show |
p.Phe others(6): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 3/3 | 838/1779 | 633/1023 | 211/340 | chr3 | TogoVar | ||
A4GNT_chr3_138118713_138137390 | 138131044 | T | A | synonymous_variant | LOW | HG02257.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0196 | 1 | 398 | 0.0025 | 0 | c.213 others(3): Show |
p.Val others(5): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/3 | 418/1779 | 213/1023 | 71/340 | chr3 | TogoVar | ||
A4GNT_chr3_138118713_138137390 | 138131161 | A | G | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(200): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0010others(145): Show | 203 | 398 | 0.5101 | 0 | c.96T others(2): Show |
p.Cys others(5): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/3 | 301/1779 | 96/1023 | 32/340 | chr3 | TogoVar |