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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKT3_chr1_243494724_243855243 | 243686630 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01123.hp1 HG01123.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0172a0001c0001t0001g0178a0001c0001t0001g0248others(10): Show | 13 | 301 | 0.0432 | 8 | c.172 others(25): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243693242 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02004.hp1 HG02080.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0149others(12): Show | 15 | 301 | 0.0498 | 8 | c.172 others(25): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243693243 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18970.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0053a0001c0001t0001g0084 | 3 | 301 | 0.0100 | 8 | c.172 others(25): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243699465 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02895.hp1 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0088a0001c0001t0001g0203a0001c0001t0001g0206others(1): Show | 4 | 301 | 0.0133 | 8 | c.47- others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243845588 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(91): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0065a0001c0001t0001g0070a0001c0001t0001g0077others(91): Show | 94 | 301 | 0.3123 | 8 | c.-11 others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
ALAD_chr9_113381312_113406284 | 113381412 | C | CCTCTCTC others(1): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 NA18979.hp2 NA19012.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0005a0002c0004t0006 | a0001c0001t0001g0272a0001c0001t0005g0302a0002c0004t0006g0166 | 3 | 446 | 0.0067 | 8 | c.*68 others(19): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 4899 | chr9 | TogoVar | ||||||
ALAS1_chr3_52193160_52219327 | 52193983 | A | AAAAGAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 HG02027.hp2 HG02273.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0007a0001c0001t0001g0038a0001c0001t0004g0055others(2): Show | 7 | 354 | 0.0198 | 8 | c.-44 others(19): Show |
ALAS1 | ENSG00000023330.15 | transcript | ENST00000484952.6 | protein_coding | 4176 | chr3 | TogoVar | ||||||
ALAS2_chrX_55004055_55035977 | 55023191 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045a0001c0001t0002g0101a0001c0001t0002g0102others(1): Show | 4 | 284 | 0.0141 | 8 | c.415 others(23): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 4/10 | chrX | TogoVar | ||||||
ALB_chr4_73399287_73426482 | 73409147 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01981.hp1 HG02004.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0028a0001c0001t0001g0066a0001c0006t0001g0067 | 4 | 392 | 0.0102 | 8 | c.483 others(23): Show |
ALB | ENSG00000163631.19 | transcript | ENST00000295897.9 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105368223 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02155.hp2 HG02451.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(5): Show | a0001c0001t0001g0166a0001c0001t0001g0167a0001c0001t0004g0154others(16): Show | 19 | 378 | 0.0503 | 8 | c.73+ others(21): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105470132 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005a0001c0002t0003g0334a0001c0002t0003g0340 | 4 | 378 | 0.0106 | 8 | c.74- others(25): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105480351 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18967.hp1 NA18973.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0014a0001c0003t0002g0015a0001c0003t0002g0039others(2): Show | 5 | 378 | 0.0132 | 8 | c.74- others(25): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105486957 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01884.hp1 HG02109.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0026a0001c0002t0027a0001c0003t0006others(3): Show | a0001c0001t0026g0323a0001c0002t0027g0325a0001c0003t0006g0321others(5): Show | 8 | 378 | 0.0212 | 8 | c.74- others(25): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105496827 | G | GGGGTGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02698.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0089a0001c0001t0001g0091others(25): Show | 28 | 378 | 0.0741 | 8 | c.74- others(25): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105563667 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02055.hp2 HG02572.hp1 others(9): Show |
a0001a0007 | a0001c0002a0007c0013 | a0001c0002t0001a0001c0002t0009a0007c0013t0001 | a0001c0002t0001g0082a0001c0002t0001g0104a0001c0002t0001g0106others(9): Show | 12 | 378 | 0.0318 | 8 | c.166 others(27): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105578676 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG02055.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0003t0006a0001c0003t0025others(4): Show | a0001c0001t0001g0056a0001c0001t0001g0166a0001c0001t0001g0167others(10): Show | 13 | 378 | 0.0344 | 8 | c.*42 others(19): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1777 | chr3 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49454031 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02738.hp1 HG03209.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0004a0001c0005t0002a0002c0002t0001others(2): Show | a0001c0001t0004g0219a0001c0005t0002g0040a0001c0005t0002g0211others(8): Show | 11 | 342 | 0.0322 | 8 | c.90+ others(21): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ALDH1A2_chr15_57948429_58070711 | 57969814 | C | CGTACTCG others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02109.hp1 HG02135.hp2 others(27): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006a0002c0002t0020others(2): Show | a0002c0002t0002g0003a0002c0002t0002g0062a0002c0002t0002g0063others(26): Show | 30 | 326 | 0.0920 | 8 | c.799 others(25): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 7/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 57981289 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01952.hp2 HG02004.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0010 | a0001c0001t0001g0298a0002c0002t0002g0064a0002c0002t0002g0069others(11): Show | 14 | 326 | 0.0429 | 8 | c.798 others(27): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 7/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 58004693 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00733.hp2 others(49): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(3): Show | a0002c0002t0002g0057a0002c0002t0002g0061a0002c0002t0002g0065others(49): Show | 52 | 326 | 0.1595 | 8 | c.493 others(25): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 4/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 58036356 | T | TAATGACA others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0289a0001c0001t0005g0290a0001c0001t0005g0291others(1): Show | 4 | 326 | 0.0123 | 8 | c.118 others(27): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 58061595 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01243.hp1 HG01361.hp1 others(26): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006a0002c0002t0010others(2): Show | a0002c0002t0002g0092a0002c0002t0002g0094a0002c0002t0002g0095others(26): Show | 29 | 326 | 0.0890 | 8 | c.117 others(25): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126161934 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02647.hp2 HG02818.hp2 others(7): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0030a0001c0031others(4): Show | a0001c0001t0001a0001c0030t0001a0001c0031t0001others(4): Show | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0030t0001g0035others(6): Show | 10 | 338 | 0.0296 | 8 | c.-23 others(23): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126174176 | T | TTACAGGC others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01975.hp2 HG02273.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0318a0001c0001t0001g0319a0001c0001t0001g0320others(6): Show | 9 | 338 | 0.0266 | 8 | c.-24 others(25): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126179498 | T | TCAAACAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(102): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0007a0001c0015others(21): Show | a0001c0001t0001a0001c0007t0001a0001c0015t0001others(21): Show | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0001t0001g0050others(98): Show | 105 | 338 | 0.3107 | 8 | c.-24 others(23): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105035839 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01255.hp1 HG01256.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0012a0001c0002t0010a0001c0010t0007others(1): Show | a0001c0001t0012g0016a0001c0001t0012g0020a0001c0001t0012g0263others(8): Show | 11 | 386 | 0.0285 | 8 | c.214 others(27): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046149 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01361.hp1 HG03453.hp2 others(8): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0174a0001c0001t0001g0197a0001c0001t0001g0266others(8): Show | 11 | 386 | 0.0285 | 8 | c.186 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046193 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG03540.hp2 NA18986.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0258a0001c0001t0001g0267 | 3 | 386 | 0.0078 | 8 | c.186 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046193 | C | CTCTCTAT others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02083.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0003g0268a0001c0001t0006g0342a0001c0001t0008g0227others(1): Show | 4 | 386 | 0.0104 | 8 | c.186 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH2_chr12_111761933_111822532 | 111764982 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02486.hp2 HG02523.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012a0001c0001t0031others(2): Show | a0001c0001t0008g0093a0001c0001t0012g0051a0001c0001t0031g0067others(2): Show | 5 | 342 | 0.0146 | 8 | c.-20 others(19): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 1950 | chr12 | TogoVar | ||||||
ALDH2_chr12_111761933_111822532 | 111782896 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02257.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0017a0001c0001t0025a0001c0001t0038others(3): Show | a0001c0001t0017g0035a0001c0001t0017g0038a0001c0001t0025g0036others(5): Show | 8 | 342 | 0.0234 | 8 | c.220 others(23): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ALDH3A2_chr17_19643751_19682596 | 19665376 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003 | a0001c0001t0004g0047a0001c0002t0003g0113a0001c0002t0003g0114others(1): Show | 4 | 366 | 0.0109 | 8 | c.120 others(25): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALDH3A2_chr17_19643751_19682596 | 19682329 | T | TCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG02074.hp2 HG03490.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0040others(7): Show | 15 | 366 | 0.0410 | 8 | c.*67 others(19): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 4734 | chr17 | TogoVar | ||||||
ALDH3B2_chr11_67657155_67679623 | 67672042 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02145.hp2 NA19055.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003 | a0001c0001t0001g0073a0001c0001t0001g0074a0004c0004t0003g0203 | 3 | 390 | 0.0077 | 8 | c.-24 others(27): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ALDH3B2_chr11_67657155_67679623 | 67672085 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02886.hp1 HG03130.hp1 others(2): Show |
a0001a0002a0007 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0011t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0011t0001g0056others(2): Show | 5 | 390 | 0.0128 | 8 | c.-24 others(27): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ALDH4A1_chr1_18866430_18907555 | 18876661 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01106.hp1 others(3): Show |
a0001a0002a0011 | a0001c0003a0002c0008a0002c0009others(2): Show | a0001c0003t0002a0002c0008t0031a0002c0009t0010others(2): Show | a0001c0003t0002g0161a0002c0008t0031g0332a0002c0009t0010g0197others(2): Show | 6 | 406 | 0.0148 | 8 | c.118 others(25): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 11/14 | chr1 | TogoVar | ||||||
ALDH4A1_chr1_18866430_18907555 | 18881651 | G | GGGTTGCC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(398): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(333): Show | 401 | 406 | 0.9877 | 8 | c.866 others(21): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 8/14 | chr1 | TogoVar | ||||||
ALDH4A1_chr1_18866430_18907555 | 18906055 | G | GAGGCAGG others(1): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02723.hp1 HG03195.hp1 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0033a0002c0008t0031a0002c0008t0032 | a0001c0001t0033g0331a0002c0008t0031g0332a0002c0008t0032g0330 | 3 | 406 | 0.0074 | 8 | c.-35 others(19): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 3501 | chr1 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24499976 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 HG02970.hp2 others(2): Show |
a0002a0003a0009 | a0002c0002a0003c0003a0009c0012 | a0002c0002t0007a0002c0002t0012a0002c0002t0026others(2): Show | a0002c0002t0007g0068a0002c0002t0012g0022a0002c0002t0026g0069others(2): Show | 5 | 368 | 0.0136 | 8 | c.355 others(25): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24522478 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01943.hp2 HG02258.hp2 others(9): Show |
a0002a0013 | a0002c0002a0013c0017 | a0002c0002t0002a0002c0002t0005a0002c0002t0018others(2): Show | a0002c0002t0002g0058a0002c0002t0002g0061a0002c0002t0002g0062others(9): Show | 12 | 368 | 0.0326 | 8 | c.101 others(25): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24522501 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02683.hp1 HG02970.hp2 NA18959.hp1 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0003a0002c0002t0007a0003c0003t0001 | a0002c0002t0003g0055a0002c0002t0007g0068a0003c0003t0001g0029others(1): Show | 4 | 368 | 0.0109 | 8 | c.101 others(25): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH7A1_chr5_126536841_126600219 | 126571150 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02622.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0284a0001c0001t0002g0281a0001c0001t0004g0264others(3): Show | 6 | 380 | 0.0158 | 8 | c.696 others(23): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 7/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126593308 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01069.hp2 HG01106.hp1 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0315a0001c0001t0001g0365a0001c0001t0001g0372others(30): Show | 33 | 380 | 0.0868 | 8 | c.246 others(21): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 2/17 | chr5 | TogoVar | ||||||
ALDH9A1_chr1_165657216_165703562 | 165672972 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01081.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0040others(7): Show | 13 | 332 | 0.0392 | 8 | c.931 others(25): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 6/10 | chr1 | TogoVar | ||||||
ALG10B_chr12_38311774_38334721 | 38333755 | C | CTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02647.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0012a0003c0005t0019a0003c0005t0068 | a0001c0001t0012g0007a0001c0001t0012g0014a0003c0005t0019g0001others(1): Show | 6 | 452 | 0.0133 | 8 | c.*12 others(21): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 4035 | chr12 | TogoVar | ||||||
ALG10B_chr12_38311774_38334721 | 38333759 | A | ATGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00544.hp2 others(95): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0001g0001a0001c0001t0004g0002a0001c0001t0005g0002others(24): Show | 98 | 452 | 0.2168 | 8 | c.*12 others(21): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 4039 | chr12 | TogoVar | ||||||
ALG10_chr12_34017496_34033302 | 34029736 | A | ATTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG01261.hp1 HG01884.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0025 | 27 | 332 | 0.0813 | 8 | c.*28 others(19): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 1435 | chr12 | TogoVar | ||||||
ALG11_chr13_52007398_52038600 | 52038170 | C | CAAAAAAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019 | a0001c0001t0003g0003a0001c0001t0003g0020a0001c0001t0003g0023others(9): Show | 36 | 362 | 0.0995 | 8 | c.*95 others(19): Show |
ALG11 | ENSG00000253710.5 | transcript | ENST00000521508.2 | protein_coding | 4571 | chr13 | TogoVar | ||||||
ALG13_chrX_111676170_111765649 | 111681595 | T | TCCTCCGC others(1): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 191 | 0.0052 | 8 | c.81+ others(21): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ALG13_chrX_111676170_111765649 | 111691739 | G | GGTATGCT others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03516.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016 | 3 | 191 | 0.0157 | 8 | c.383 others(25): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar |