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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1CF_chr10_50794409_50890627 | 50865232 | C | CTGGG | intron_variant | MODIFIER | HG02258.hp1 HG03139.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006a0001c0001t0008g0098 | 4 | 338 | 0.0118 | 4 | c.-93 others(21): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8832979 | C | CTTTT | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02055.hp1 others(16): Show |
a0004a0008a0014others(5): Show | a0004c0014a0004c0064a0008c0012others(8): Show | a0004c0014t0004a0004c0064t0002a0008c0012t0002others(10): Show | a0004c0014t0004g0215a0004c0014t0004g0237a0004c0014t0004g0238others(16): Show | 19 | 368 | 0.0516 | 4 | c.463 others(21): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
A2ML1_chr12_8817621_8881787 | 8841013 | C | CGGAA | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(13): Show |
a0004a0008a0017others(5): Show | a0004c0040a0008c0012a0008c0024others(7): Show | a0004c0040t0004a0008c0012t0002a0008c0024t0003others(9): Show | a0004c0040t0004g0219a0008c0012t0002g0043a0008c0012t0002g0076others(13): Show | 16 | 368 | 0.0435 | 4 | c.108 others(21): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
A2ML1_chr12_8817621_8881787 | 8868457 | C | CGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(221): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0008a0001c0035others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(217): Show | 224 | 368 | 0.6087 | 4 | c.406 others(19): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 31/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
A2ML1_chr12_8817621_8881787 | 8878303 | C | CTAAA | downstream_gene_variant | MODIFIER | HG00738.hp1 HG03139.hp2 NA18960.hp2 |
a0001a0002a0009 | a0001c0001a0002c0007a0009c0015 | a0001c0001t0006a0002c0007t0003a0009c0015t0006 | a0001c0001t0006g0016a0002c0007t0003g0268a0009c0015t0006g0201 | 3 | 368 | 0.0082 | 4 | c.*22 others(15): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 1517 | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9087242 | A | ATGTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0009others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(111): Show | 137 | 332 | 0.4127 | 4 | c.277 others(23): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9093891 | T | TCAAA | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02922.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(4): Show | 9 | 332 | 0.0271 | 4 | c.212 others(21): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9094340 | C | CATAT | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG00735.hp2 others(26): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0150a0001c0001t0001g0154others(25): Show | 29 | 332 | 0.0874 | 4 | c.212 others(21): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9098449 | T | TATAA | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02922.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(4): Show | 9 | 332 | 0.0271 | 4 | c.185 others(21): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9100427 | C | CTTAT | intron_variant | MODIFIER | HG01169.hp1 HG01361.hp2 HG02056.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0169a0001c0001t0002g0051a0002c0002t0002g0127 | 3 | 332 | 0.0090 | 4 | c.155 others(21): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 13/35 | chr12 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33305997 | G | GTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(414): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0006a0001c0014others(12): Show | a0001c0001t0000a0001c0006t0000a0001c0014t0000others(12): Show | a0001c0001t0000g0001a0001c0001t0000g0002a0001c0001t0000g0003others(255): Show | 417 | 418 | 0.9976 | 4 | c.*76 others(13): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 768 | chr1 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33324199 | C | CTGTT | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02717.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0032a0001c0001t0000g0132a0001c0001t0000g0133 | 4 | 418 | 0.0096 | 4 | c.-31 others(15): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 3102 | chr1 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42690828 | C | CTTTT | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG01192.hp2 others(8): Show |
a0002 | a0002c0003a0002c0008 | a0002c0003t0001a0002c0008t0001 | a0002c0003t0001g0119a0002c0003t0001g0156a0002c0003t0001g0255others(8): Show | 11 | 406 | 0.0271 | 4 | c.*20 others(15): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1292 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42703106 | C | CTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(62): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(8): Show | a0001c0001t0002g0133a0001c0001t0002g0138a0001c0001t0002g0153others(59): Show | 65 | 406 | 0.1601 | 4 | c.-18 others(23): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42706354 | C | CAAAA | intron_variant | MODIFIER | HG02056.hp1 HG02074.hp2 HG02135.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0002a0001c0002t0006a0001c0009t0013others(2): Show | a0001c0001t0002g0163a0001c0001t0002g0176a0001c0001t0002g0180others(10): Show | 13 | 406 | 0.0320 | 4 | c.-18 others(25): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42708545 | A | AGAAG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(41): Show | 45 | 406 | 0.1108 | 4 | c.-18 others(25): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42709048 | A | AATAT | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0009a0002c0003 | a0001c0009t0013a0002c0003t0001 | a0001c0009t0013g0364a0002c0003t0001g0385a0002c0003t0001g0386others(2): Show | 5 | 406 | 0.0123 | 4 | c.-18 others(25): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42710697 | G | GAAAT | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(74): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0005others(13): Show | a0001c0001t0002g0110a0001c0001t0002g0236a0001c0001t0002g0237others(72): Show | 77 | 406 | 0.1897 | 4 | c.-18 others(25): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42714274 | C | CAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00597.hp1 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(11): Show | a0001c0001t0002g0253a0001c0001t0002g0254a0001c0001t0004g0250others(39): Show | 43 | 406 | 0.1059 | 4 | c.-18 others(23): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42722223 | A | ATTTT | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01261.hp1 others(17): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0005others(5): Show | a0001c0001t0002g0237a0001c0001t0002g0253a0001c0001t0002g0254others(16): Show | 20 | 406 | 0.0493 | 4 | c.-16 others(15): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1354 | chr22 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138119702 | T | TTTTA | downstream_gene_variant | MODIFIER | NA18612.hp1 NA19003.hp2 NA19091.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0004a0001c0003t0003g0057 | 3 | 398 | 0.0075 | 4 | c.*45 others(15): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 4010 | chr3 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53312785 | G | GTATA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0044a0002c0004t0001g0156a0002c0004t0002g0021others(1): Show | 6 | 330 | 0.0182 | 4 | c.689 others(21): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318249 | T | TGTGC | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00735.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0134a0001c0001t0001g0140others(4): Show | 10 | 330 | 0.0303 | 4 | c.251 others(21): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125062916 | C | CGTGT | upstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG02145.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0091a0001c0001t0002g0057a0001c0001t0002g0058others(14): Show | 17 | 364 | 0.0467 | 4 | c.-26 others(15): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2518 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125080470 | G | GTCTC | intron_variant | MODIFIER | NA18939.hp2 NA18944.hp2 NA18951.hp1 others(3): Show |
a0002a0008 | a0002c0002a0008c0023 | a0002c0002t0001a0008c0023t0003 | a0002c0002t0001g0117a0002c0002t0001g0118a0002c0002t0001g0131others(3): Show | 6 | 364 | 0.0165 | 4 | c.358 others(21): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125102068 | T | TTAAA | intron_variant | MODIFIER | HG00733.hp2 HG01243.hp1 HG01884.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0097a0001c0001t0001g0159a0002c0002t0001g0011others(6): Show | 9 | 364 | 0.0247 | 4 | c.571 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG00738.hp1 others(31): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0003a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0190a0001c0001t0001g0282others(31): Show | 34 | 364 | 0.0934 | 4 | c.767 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151731938 | G | GAGAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(100): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0023others(40): Show | 103 | 428 | 0.2407 | 4 | c.-20 others(15): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 1988 | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151747618 | T | TTGTG | intron_variant | MODIFIER | HG02258.hp1 HG02717.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0067 | a0001c0001t0017g0029a0001c0001t0067g0148 | 4 | 428 | 0.0094 | 4 | c.603 others(21): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151761204 | G | GATAT | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00738.hp1 others(37): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0002a0001c0001t0032a0001c0001t0044others(4): Show | a0001c0001t0002g0031a0001c0001t0002g0117a0001c0001t0032g0006others(23): Show | 40 | 428 | 0.0935 | 4 | c.*36 others(15): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3649 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
AADACL4_chr1_12639085_12672076 | 12645245 | T | TCCTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(47): Show | 65 | 310 | 0.2097 | 4 | c.168 others(19): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12648346 | A | ATCCT | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(73): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0010others(64): Show | 76 | 310 | 0.2452 | 4 | c.169 others(21): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12651828 | A | ATTTT | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0045a0001c0001t0001g0253a0001c0001t0001g0259others(8): Show | 11 | 310 | 0.0355 | 4 | c.385 others(19): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12658033 | T | TTTCC | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01099.hp1 others(30): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0001 | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0028others(25): Show | 33 | 310 | 0.1065 | 4 | c.386 others(21): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12658108 | T | TTTCC | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00621.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0088a0001c0001t0001g0114others(16): Show | 20 | 310 | 0.0645 | 4 | c.386 others(21): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12658139 | C | CCTTT | intron_variant | MODIFIER | HG00438.hp2 HG02074.hp1 NA18989.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0126a0001c0001t0001g0173others(1): Show | 5 | 310 | 0.0161 | 4 | c.386 others(21): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADAC_chr3_151809116_151833488 | 151819118 | T | TAGAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(216): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(72): Show | 219 | 440 | 0.4977 | 4 | c.362 others(21): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADAC_chr3_151809116_151833488 | 151820516 | C | CTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(136): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(37): Show | 139 | 440 | 0.3159 | 4 | c.431 others(17): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AADAC_chr3_151809116_151833488 | 151828897 | A | AAAAT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(296): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(101): Show | 299 | 440 | 0.6796 | 4 | c.*72 others(13): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 410 | chr3 | TogoVar | ||||||
AADAC_chr3_151809116_151833488 | 151830282 | C | CACAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(255): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(83): Show | 258 | 440 | 0.5864 | 4 | c.*21 others(15): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 1795 | chr3 | TogoVar | ||||||
AADAC_chr3_151809116_151833488 | 151831382 | T | TACAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(75): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0021a0001c0001t0002g0088a0002c0002t0001g0001others(13): Show | 78 | 440 | 0.1773 | 4 | c.*32 others(15): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2895 | chr3 | TogoVar | ||||||
AADAC_chr3_151809116_151833488 | 151831382 | T | TATAC | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01109.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0018others(8): Show | 26 | 440 | 0.0591 | 4 | c.*32 others(15): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2895 | chr3 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056457 | T | TACAC | downstream_gene_variant | MODIFIER | HG01358.hp2 HG04184.hp2 NA18981.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0190a0001c0001t0001g0194a0001c0002t0001g0012others(2): Show | 5 | 378 | 0.0132 | 4 | c.*44 others(15): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3764 | chr4 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170072299 | G | GTATA | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02723.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0083a0001c0001t0001g0087others(2): Show | 10 | 378 | 0.0265 | 4 | c.654 others(19): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67195693 | G | GTAAC | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0236a0001c0001t0006g0237a0001c0001t0006g0238 | 3 | 380 | 0.0079 | 4 | c.*71 others(15): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4973 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222230 | A | ACGCG | intron_variant | MODIFIER | HG01255.hp1 NA18941.hp2 NA18950.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0002 | a0001c0001t0002g0033a0001c0001t0004g0246a0001c0001t0004g0247others(4): Show | 7 | 380 | 0.0184 | 4 | c.535 others(21): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222242 | G | GCGCA | intron_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01981.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0028a0001c0001t0002g0040a0001c0001t0002g0042others(13): Show | 17 | 380 | 0.0447 | 4 | c.535 others(21): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67238698 | A | ATTTT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(111): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0005g0232a0001c0001t0005g0233a0001c0001t0005g0234others(108): Show | 114 | 380 | 0.3000 | 4 | c.74- others(19): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67241040 | T | TACAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(47): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0277a0001c0001t0001g0278others(45): Show | 50 | 380 | 0.1316 | 4 | c.74- others(19): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67251236 | C | CTGTG | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01928.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0008a0002c0002t0003g0211a0002c0002t0003g0230 | 4 | 380 | 0.0105 | 4 | c.73+ others(19): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar |