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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALAS2_chrX_55004055_55035977 | 55024740 | T | C | synonymous_variant | LOW | HG02647.hp1 HG03453.hp2 HG03516.hp2 |
a0001 | a0001c0004a0001c0008 | a0001c0004t0001a0001c0008t0001 | a0001c0004t0001g0037a0001c0008t0001g0149 | 3 | 284 | 0.0106 | 0 | c.282 others(3): Show |
p.Glu others(5): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 3/11 | 333/1940 | 282/1764 | 94/587 | chrX | TogoVar | ||
ALAS2_chrX_55004055_55035977 | 55024824 | C | T | synonymous_variant | LOW | HG03195.hp1 HG03486.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044a0001c0002t0002g0096a0001c0002t0002g0097others(1): Show | 4 | 284 | 0.0141 | 0 | c.198 others(3): Show |
p.Ala others(5): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 3/11 | 249/1940 | 198/1764 | 66/587 | chrX | TogoVar | ||
ALB_chr4_73399287_73426482 | 73418267 | T | C | synonymous_variant | LOW | HG01884.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0067 | 1 | 392 | 0.0026 | 0 | c.160 others(4): Show |
p.Asp others(6): Show |
ALB | ENSG00000163631.19 | transcript | ENST00000295897.9 | protein_coding | 12/15 | 1649/2285 | 1608/1830 | 536/609 | chr4 | TogoVar | ||
ALB_chr4_73399287_73426482 | 73419522 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(180): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0004 | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(2): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0007others(43): Show | 183 | 392 | 0.4668 | 0 | c.166 others(4): Show |
p.Leu others(6): Show |
ALB | ENSG00000163631.19 | transcript | ENST00000295897.9 | protein_coding | 13/15 | 1709/2285 | 1668/1830 | 556/609 | chr4 | TogoVar | ||
ALCAM_chr3_105361909_105581900 | 105520107 | C | A | synonymous_variant | LOW | HG02055.hp1 | a0001 | a0001c0012 | a0001c0012t0006 | a0001c0012t0006g0326 | 1 | 378 | 0.0027 | 0 | c.114 others(3): Show |
p.Thr others(5): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 2/16 | 614/4701 | 114/1752 | 38/583 | chr3 | TogoVar | ||
ALCAM_chr3_105361909_105581900 | 105524357 | C | T | synonymous_variant | LOW | HG01106.hp1 HG03139.hp2 |
a0001 | a0001c0011 | a0001c0011t0010 | a0001c0011t0010g0345a0001c0011t0010g0354 | 2 | 378 | 0.0053 | 0 | c.243 others(3): Show |
p.Asp others(5): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 3/16 | 743/4701 | 243/1752 | 81/583 | chr3 | TogoVar | ||
ALCAM_chr3_105361909_105581900 | 105540006 | G | A | synonymous_variant | LOW | HG01070.hp1 HG02055.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0008a0001c0012 | a0001c0008t0006a0001c0008t0021a0001c0012t0006 | a0001c0008t0006g0322a0001c0008t0006g0324a0001c0008t0021g0333others(1): Show | 4 | 378 | 0.0106 | 0 | c.762 others(3): Show |
p.Leu others(6): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 7/16 | 1262/4701 | 762/1752 | 254/583 | chr3 | TogoVar | ||
ALCAM_chr3_105361909_105581900 | 105540102 | A | G | splice_region_variant others(1): Show |
LOW | HG02922.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0332 | 1 | 378 | 0.0027 | 0 | c.858 others(3): Show |
p.Pro others(6): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 7/16 | 1358/4701 | 858/1752 | 286/583 | chr3 | TogoVar | ||
ALCAM_chr3_105361909_105581900 | 105541674 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(80): Show |
a0001a0007 | a0001c0002a0007c0013 | a0001c0002t0001a0001c0002t0003a0001c0002t0007others(7): Show | a0001c0002t0001g0018a0001c0002t0001g0029a0001c0002t0001g0030others(79): Show | 83 | 378 | 0.2196 | 0 | c.900 others(3): Show |
p.Leu others(6): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 8/16 | 1400/4701 | 900/1752 | 300/583 | chr3 | TogoVar | ||
ALCAM_chr3_105361909_105581900 | 105541752 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(362): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(37): Show | a0001c0001t0001g0020a0001c0001t0001g0043a0001c0001t0001g0053others(357): Show | 365 | 378 | 0.9656 | 0 | c.978 others(3): Show |
p.Ala others(6): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 8/16 | 1478/4701 | 978/1752 | 326/583 | chr3 | TogoVar | ||
ALCAM_chr3_105361909_105581900 | 105547430 | T | C | synonymous_variant | LOW | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(57): Show |
a0001a0006 | a0001c0003a0001c0008a0001c0009others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(6): Show | a0001c0003t0001g0032a0001c0003t0001g0033a0001c0003t0001g0034others(57): Show | 60 | 378 | 0.1587 | 0 | c.128 others(4): Show |
p.Ser others(6): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 11/16 | 1781/4701 | 1281/1752 | 427/583 | chr3 | TogoVar | ||
ALCAM_chr3_105361909_105581900 | 105547487 | A | G | synonymous_variant | LOW | HG00280.hp1 HG00408.hp2 HG00609.hp2 others(21): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0004a0002c0004t0002g0019a0002c0004t0002g0022others(20): Show | 24 | 378 | 0.0635 | 0 | c.133 others(4): Show |
p.Gln others(6): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 11/16 | 1838/4701 | 1338/1752 | 446/583 | chr3 | TogoVar | ||
ALCAM_chr3_105361909_105581900 | 105547511 | C | T | synonymous_variant | LOW | HG03490.hp1 HG03492.hp2 NA18974.hp1 others(1): Show |
a0001a0003 | a0001c0009a0003c0010 | a0001c0009t0002a0003c0010t0001 | a0001c0009t0002g0076a0001c0009t0002g0084a0003c0010t0001g0002 | 4 | 378 | 0.0106 | 0 | c.136 others(4): Show |
p.Ser others(6): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 11/16 | 1862/4701 | 1362/1752 | 454/583 | chr3 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49453352 | G | A | synonymous_variant | LOW | HG01884.hp2 HG02486.hp1 |
a0001 | a0001c0014 | a0001c0014t0001a0001c0014t0007 | a0001c0014t0001g0075a0001c0014t0007g0073 | 2 | 342 | 0.0059 | 0 | c.21G others(2): Show |
p.Gly others(4): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 1/17 | 128/3099 | 21/2409 | 7/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49461916 | A | T | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(96): Show |
a0001a0002a0007others(2): Show | a0001c0009a0001c0012a0001c0028others(8): Show | a0001c0009t0002a0001c0012t0006a0001c0012t0007others(15): Show | a0001c0009t0002g0034a0001c0009t0002g0165a0001c0009t0002g0195others(84): Show | 99 | 342 | 0.2895 | 0 | c.792 others(3): Show |
p.Gly others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 7/17 | 899/3099 | 792/2409 | 264/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49461928 | G | A | synonymous_variant | LOW | HG02630.hp1 HG02970.hp1 HG03139.hp2 |
a0001 | a0001c0012 | a0001c0012t0006a0001c0012t0007 | a0001c0012t0006g0022a0001c0012t0007g0022a0001c0012t0007g0065 | 3 | 342 | 0.0088 | 0 | c.804 others(3): Show |
p.Glu others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 7/17 | 911/3099 | 804/2409 | 268/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49462710 | C | T | synonymous_variant | LOW | HG01891.hp1 NA18522.hp2 |
a0001 | a0001c0016 | a0001c0016t0001a0001c0016t0007 | a0001c0016t0001g0068a0001c0016t0007g0067 | 2 | 342 | 0.0059 | 0 | c.105 others(4): Show |
p.Asp others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 8/17 | 1160/3099 | 1053/2409 | 351/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49464147 | G | C | synonymous_variant | LOW | HG01884.hp2 HG02486.hp1 |
a0001 | a0001c0014 | a0001c0014t0001a0001c0014t0007 | a0001c0014t0001g0075a0001c0014t0007g0073 | 2 | 342 | 0.0059 | 0 | c.121 others(4): Show |
p.Val others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 10/17 | 1322/3099 | 1215/2409 | 405/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49464240 | G | A | synonymous_variant | LOW | HG00733.hp2 HG01261.hp2 HG02055.hp1 others(13): Show |
a0003a0004a0006 | a0003c0004a0004c0008a0006c0011 | a0003c0004t0002a0004c0008t0008a0004c0008t0012others(1): Show | a0003c0004t0002g0027a0003c0004t0002g0125a0003c0004t0002g0126others(8): Show | 16 | 342 | 0.0468 | 0 | c.130 others(4): Show |
p.Gly others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 10/17 | 1415/3099 | 1308/2409 | 436/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49464423 | G | A | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(94): Show |
a0001a0002a0007others(3): Show | a0001c0005a0001c0009a0002c0002others(5): Show | a0001c0005t0002a0001c0005t0006a0001c0009t0002others(13): Show | a0001c0005t0002g0040a0001c0005t0002g0145a0001c0005t0002g0146others(83): Show | 97 | 342 | 0.2836 | 0 | c.133 others(4): Show |
p.Gln others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 11/17 | 1445/3099 | 1338/2409 | 446/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49464450 | C | T | synonymous_variant | LOW | HG01346.hp1 HG02258.hp1 HG03130.hp2 others(1): Show |
a0002 | a0002c0010 | a0002c0010t0001a0002c0010t0002 | a0002c0010t0001g0225a0002c0010t0002g0226a0002c0010t0002g0227others(1): Show | 4 | 342 | 0.0117 | 0 | c.136 others(4): Show |
p.His others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 11/17 | 1472/3099 | 1365/2409 | 455/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49464724 | T | G | synonymous_variant | LOW | HG00099.hp1 HG00280.hp2 HG00735.hp1 others(57): Show |
a0002a0005a0008others(1): Show | a0002c0003a0002c0007a0005c0013others(2): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(4): Show | a0002c0003t0001g0002a0002c0003t0001g0006a0002c0003t0001g0009others(33): Show | 60 | 342 | 0.1754 | 0 | c.153 others(4): Show |
p.Val others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 12/17 | 1637/3099 | 1530/2409 | 510/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49464739 | G | A | synonymous_variant | LOW | HG00733.hp2 HG01261.hp2 HG02055.hp1 others(13): Show |
a0003a0004a0006 | a0003c0004a0004c0008a0006c0011 | a0003c0004t0002a0004c0008t0008a0004c0008t0012others(1): Show | a0003c0004t0002g0027a0003c0004t0002g0125a0003c0004t0002g0126others(8): Show | 16 | 342 | 0.0468 | 0 | c.154 others(4): Show |
p.Pro others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 12/17 | 1652/3099 | 1545/2409 | 515/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49465828 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00280.hp2 HG00735.hp1 others(58): Show |
a0002a0005a0008others(1): Show | a0002c0003a0002c0007a0002c0032others(3): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(5): Show | a0002c0003t0001g0002a0002c0003t0001g0006a0002c0003t0001g0009others(34): Show | 61 | 342 | 0.1784 | 0 | c.165 others(4): Show |
p.Asn others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 13/17 | 1766/3099 | 1659/2409 | 553/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49466133 | G | A | synonymous_variant | LOW | HG02451.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0070 | 1 | 342 | 0.0029 | 0 | c.178 others(4): Show |
p.Ala others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 14/17 | 1895/3099 | 1788/2409 | 596/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49466244 | G | A | synonymous_variant | LOW | HG00733.hp2 HG01261.hp2 HG02055.hp1 others(13): Show |
a0003a0004a0006 | a0003c0004a0004c0008a0006c0011 | a0003c0004t0002a0004c0008t0008a0004c0008t0012others(1): Show | a0003c0004t0002g0027a0003c0004t0002g0125a0003c0004t0002g0126others(8): Show | 16 | 342 | 0.0468 | 0 | c.189 others(4): Show |
p.Ala others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 14/17 | 2006/3099 | 1899/2409 | 633/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49466265 | C | T | synonymous_variant | LOW | HG01884.hp1 HG02257.hp2 |
a0001 | a0001c0015 | a0001c0015t0001a0001c0015t0003 | a0001c0015t0001g0077a0001c0015t0003g0078 | 2 | 342 | 0.0059 | 0 | c.192 others(4): Show |
p.Ala others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 14/17 | 2027/3099 | 1920/2409 | 640/802 | chr19 | TogoVar | ||
ALDH16A1_chr19_49448225_49476050 | 49468473 | C | T | synonymous_variant | LOW | NA18962.hp2 | a0001 | a0001c0026 | a0001c0026t0005 | a0001c0026t0005g0101 | 1 | 342 | 0.0029 | 0 | c.203 others(4): Show |
p.Phe others(6): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 15/17 | 2138/3099 | 2031/2409 | 677/802 | chr19 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95611365 | C | T | synonymous_variant | LOW | HG03130.hp1 | a0001 | a0001c0010 | a0001c0010t0013 | a0001c0010t0013g0276 | 1 | 372 | 0.0027 | 0 | c.200 others(4): Show |
p.Glu others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 16/18 | 2144/3352 | 2001/2388 | 667/795 | chr10 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95611389 | G | A | synonymous_variant | LOW | HG01261.hp2 HG01433.hp1 HG02132.hp1 others(6): Show |
a0001a0005a0008 | a0001c0004a0005c0011a0008c0016 | a0001c0004t0001a0005c0011t0001a0008c0016t0001 | a0001c0004t0001g0030a0001c0004t0001g0076a0001c0004t0001g0080others(5): Show | 9 | 372 | 0.0242 | 0 | c.197 others(4): Show |
p.Ser others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 16/18 | 2120/3352 | 1977/2388 | 659/795 | chr10 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95613967 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 | a0002 | a0002c0014 | a0002c0014t0003 | a0002c0014t0003g0057 | 1 | 372 | 0.0027 | 0 | c.180 others(4): Show |
p.Leu others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 14/18 | 1943/3352 | 1800/2388 | 600/795 | chr10 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95613997 | G | A | synonymous_variant | LOW | HG01109.hp2 HG01123.hp1 HG01257.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0268a0001c0003t0005g0269a0001c0003t0005g0270others(5): Show | 8 | 372 | 0.0215 | 0 | c.177 others(4): Show |
p.Ser others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 14/18 | 1913/3352 | 1770/2388 | 590/795 | chr10 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95621169 | G | A | synonymous_variant | LOW | HG03834.hp2 NA18944.hp2 NA18959.hp1 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0015a0001c0006t0001g0123a0001c0006t0001g0124 | 5 | 372 | 0.0134 | 0 | c.132 others(4): Show |
p.Ile others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 12/18 | 1472/3352 | 1329/2388 | 443/795 | chr10 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95621184 | G | A | synonymous_variant | LOW | NA19066.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0243 | 1 | 372 | 0.0027 | 0 | c.131 others(4): Show |
p.Ile others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 12/18 | 1457/3352 | 1314/2388 | 438/795 | chr10 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95627491 | A | G | synonymous_variant | LOW | HG01106.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0221 | 1 | 372 | 0.0027 | 0 | c.102 others(4): Show |
p.Ile others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 9/18 | 1172/3352 | 1029/2388 | 343/795 | chr10 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95627575 | G | A | synonymous_variant | LOW | HG03834.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0252 | 1 | 372 | 0.0027 | 0 | c.945 others(3): Show |
p.Ala others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 9/18 | 1088/3352 | 945/2388 | 315/795 | chr10 | TogoVar | ||
ALDH18A1_chr10_95600941_95661711 | 95633512 | G | A | synonymous_variant | LOW | NA19009.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0095 | 1 | 372 | 0.0027 | 0 | c.696 others(3): Show |
p.Asn others(6): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 6/18 | 839/3352 | 696/2388 | 232/795 | chr10 | TogoVar | ||
ALDH1A1_chr9_72895671_72958053 | 72930966 | G | A | synonymous_variant | LOW | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(100): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(2): Show | a0001c0002t0001g0008a0001c0002t0001g0009a0001c0002t0001g0010others(97): Show | 103 | 306 | 0.3366 | 0 | c.225 others(3): Show |
p.Ser others(5): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 3/13 | 278/2096 | 225/1506 | 75/501 | chr9 | TogoVar | ||
ALDH1A1_chr9_72895671_72958053 | 72952983 | C | A | synonymous_variant | LOW | HG03017.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0288 | 1 | 306 | 0.0033 | 0 | c.18G others(2): Show |
p.Thr others(4): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 1/13 | 71/2096 | 18/1506 | 6/501 | chr9 | TogoVar | ||
ALDH1A2_chr15_57948429_58070711 | 57961292 | G | T | splice_region_variant others(1): Show |
LOW | HG02258.hp2 HG02895.hp1 HG02897.hp1 others(17): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0011a0002c0003t0003g0015a0002c0003t0003g0016others(17): Show | 20 | 326 | 0.0614 | 0 | c.125 others(4): Show |
p.Ile others(6): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 11/13 | 1315/3386 | 1254/1557 | 418/518 | chr15 | TogoVar | ||
ALDH1A2_chr15_57948429_58070711 | 58010689 | T | C | synonymous_variant | LOW | HG01358.hp1 NA21309.hp2 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0147a0002c0004t0003g0148 | 2 | 326 | 0.0061 | 0 | c.453 others(3): Show |
p.Ala others(6): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 4/13 | 514/3386 | 453/1557 | 151/518 | chr15 | TogoVar | ||
ALDH1A2_chr15_57948429_58070711 | 58065624 | G | A | synonymous_variant | LOW | HG03579.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0321 | 1 | 326 | 0.0031 | 0 | c.27C others(2): Show |
p.Pro others(4): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/13 | 88/3386 | 27/1557 | 9/518 | chr15 | TogoVar | ||
ALDH1A3_chr15_100874831_100921626 | 100895974 | C | T | synonymous_variant | LOW | HG03516.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0111 | 1 | 414 | 0.0024 | 0 | c.708 others(3): Show |
p.Phe others(6): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 7/13 | 785/3469 | 708/1539 | 236/512 | chr15 | TogoVar | ||
ALDH1A3_chr15_100874831_100921626 | 100905588 | G | A | synonymous_variant | LOW | HG02809.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0193 | 1 | 414 | 0.0024 | 0 | c.113 others(4): Show |
p.Lys others(6): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 10/13 | 1211/3469 | 1134/1539 | 378/512 | chr15 | TogoVar | ||
ALDH1A3_chr15_100874831_100921626 | 100907231 | C | T | synonymous_variant | LOW | HG00741.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0182 | 1 | 414 | 0.0024 | 0 | c.134 others(4): Show |
p.Leu others(6): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 11/13 | 1421/3469 | 1344/1539 | 448/512 | chr15 | TogoVar | ||
ALDH1A3_chr15_100874831_100921626 | 100907273 | G | A | synonymous_variant | LOW | NA20752.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0201 | 1 | 414 | 0.0024 | 0 | c.138 others(4): Show |
p.Thr others(6): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 11/13 | 1463/3469 | 1386/1539 | 462/512 | chr15 | TogoVar | ||
ALDH1A3_chr15_100874831_100921626 | 100908423 | C | T | synonymous_variant | LOW | HG02698.hp2 NA20905.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0003 | a0001c0003t0002g0049a0001c0003t0003g0049 | 2 | 414 | 0.0048 | 0 | c.140 others(4): Show |
p.Asn others(6): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 12/13 | 1484/3469 | 1407/1539 | 469/512 | chr15 | TogoVar | ||
ALDH1B1_chr9_38387702_38403661 | 38395871 | C | T | synonymous_variant | LOW | HG01496.hp2 | a0004 | a0004c0019 | a0004c0019t0003 | a0004c0019t0003g0092 | 1 | 484 | 0.0021 | 0 | c.123 others(3): Show |
p.Ile others(5): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 2/2 | 238/3028 | 123/1554 | 41/517 | chr9 | TogoVar | ||
ALDH1B1_chr9_38387702_38403661 | 38395931 | C | T | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(161): Show |
a0002a0003a0005others(2): Show | a0002c0004a0003c0002a0003c0009others(3): Show | a0002c0004t0006a0002c0004t0012a0002c0004t0018others(9): Show | a0002c0004t0006g0020a0002c0004t0006g0023a0002c0004t0006g0035others(41): Show | 164 | 484 | 0.3388 | 0 | c.183 others(3): Show |
p.Thr others(5): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 2/2 | 298/3028 | 183/1554 | 61/517 | chr9 | TogoVar | ||
ALDH1B1_chr9_38387702_38403661 | 38395943 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(467): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0002c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0075a0001c0001t0002g0003a0001c0001t0002g0008others(125): Show | 470 | 484 | 0.9711 | 0 | c.195 others(3): Show |
p.Ile others(5): Show |
ALDH1B1 | ENSG00000137124.8 | transcript | ENST00000377698.4 | protein_coding | 2/2 | 310/3028 | 195/1554 | 65/517 | chr9 | TogoVar |