view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | 50856800 | TGTG | T | intron_variant | MODIFIER | HG00735.hp2 HG03225.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 3 | 336 | 0.0089 | -3 | c.99+ others(18): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | chr10 | TogoVar | |||||||
A1CF_chr10_50794409_50890627 | 50865296 | TTAC | T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG01981.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0008a0001c0001t0009a0001c0001t0015others(9): Show | a0001c0001t0008g0006 a0001c0001t0008g0102 a0001c0001t0009g0028 others(16): Show |
22 | 309 | 0.0712 | -3 | c.-93 others(20): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
A1CF_chr10_50794409_50890627 | 50872020 | ATAT | A | intron_variant | MODIFIER | NA18947.hp2 NA18962.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0103 |
3 | 336 | 0.0089 | -3 | c.-93 others(20): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
A1CF_chr10_50794409_50890627 | 50889579 | CTTT | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01192.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0004a0001c0002t0013others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0172 a0001c0001t0001g0197 others(3): Show |
6 | 78 | 0.0769 | -3 | c.-40 others(14): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3953 | chr10 | TogoVar | |||||||
A2ML1_chr12_8817621_8881787 | 8821935 | CGTT | C | upstream_gene_variant | MODIFIER | HG04115.hp2 NA18971.hp2 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0348 a0001c0001t0003g0346 a0001c0002t0002g0347 |
3 | 366 | 0.0082 | -3 | c.-71 others(12): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 685 | chr12 | TogoVar | |||||||
A2ML1_chr12_8817621_8881787 | 8824222 | GTTT | G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(10): Show |
a0001a0006a0024 | a0001c0001a0001c0002a0006c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 others(10): Show |
13 | 193 | 0.0674 | -3 | c.409 others(18): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8839534 | TAGA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(308): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0040 others(301): Show |
311 | 366 | 0.8497 | -3 | c.108 others(20): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8847245 | TAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01167.hp2 others(30): Show |
a0001a0003a0008others(8): Show | a0001c0001a0001c0003a0001c0050others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(19): Show | a0001c0001t0001g0020 a0001c0001t0003g0123 a0001c0003t0001g0239 others(29): Show |
33 | 62 | 0.5323 | -3 | c.168 others(20): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 14/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8856898 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00609.hp2 others(73): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(16): Show | a0001c0001t0001g0298 a0001c0001t0001g0337 a0001c0001t0003g0003 others(70): Show |
76 | 122 | 0.6230 | -3 | c.284 others(20): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 23/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8866304 | CAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01109.hp1 others(26): Show |
a0001a0003a0008others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(7): Show | a0001c0001t0001g0071 a0001c0001t0001g0112 a0001c0001t0001g0132 others(26): Show |
29 | 31 | 0.9355 | -3 | c.371 others(22): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 29/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8872796 | AAAG | A | intron_variant | MODIFIER | HG01168.hp1 HG02055.hp1 HG02886.hp1 others(9): Show |
a0003a0010a0015others(1): Show | a0003c0009a0003c0022a0003c0053others(4): Show | a0003c0009t0004a0003c0022t0004a0003c0053t0002others(4): Show | a0003c0009t0004g0156 a0003c0009t0004g0214 a0003c0009t0004g0237 others(9): Show |
12 | 366 | 0.0328 | -3 | c.422 others(22): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 33/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9065151 | TCCC | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG01074.hp2 others(38): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(4): Show | a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 others(36): Show |
41 | 78 | 0.5256 | -3 | c.*26 others(14): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 2556 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9099228 | GCTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(69): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0005t0002a0002c0002t0002others(3): Show | a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0141 others(57): Show |
72 | 330 | 0.2182 | -3 | c.170 others(20): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 14/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9115112 | CATT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(78): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0005t0002a0002c0002t0002others(3): Show | a0001c0001t0002g0005 a0001c0001t0002g0088 a0001c0001t0002g0089 others(64): Show |
81 | 330 | 0.2455 | -3 | c.86+ others(16): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 1/35 | chr12 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42690828 | CTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0004a0001c0011t0004 | a0001c0001t0004g0232 a0001c0001t0004g0234 a0001c0001t0004g0237 others(16): Show |
19 | 251 | 0.0757 | -3 | c.*20 others(14): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1292 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42698246 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(108): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0002a0001c0001t0020a0001c0002t0003others(9): Show | a0001c0001t0002g0190 a0001c0001t0002g0207 a0001c0001t0002g0325 others(106): Show |
111 | 123 | 0.9024 | -3 | c.-18 others(22): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42704876 | GGGC | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(227): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(21): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(219): Show |
230 | 402 | 0.5721 | -3 | c.-18 others(22): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42713810 | CAAA | C | intron_variant | MODIFIER | HG01169.hp1 HG02735.hp1 NA18747.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0005a0002c0003t0001 | a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 others(5): Show |
8 | 196 | 0.0408 | -3 | c.-18 others(22): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42715838 | TTTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(39): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(14): Show | a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 others(39): Show |
42 | 404 | 0.1040 | -3 | c.-18 others(22): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138127176 | CTAA | C | intron_variant | MODIFIER | HG01358.hp1 HG02622.hp1 HG02809.hp1 |
a0003 | a0003c0006 | a0003c0006t0008 | a0003c0006t0008g0028 a0003c0006t0008g0072 |
3 | 396 | 0.0076 | -3 | c.409 others(20): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125072919 | GTTT | G | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00738.hp1 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(14): Show | a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0331 others(65): Show |
71 | 140 | 0.5071 | -3 | c.134 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103448 | CACG | C | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01515.hp2 others(37): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(36): Show |
40 | 362 | 0.1105 | -3 | c.767 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103987 | CAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 others(12): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0024 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 others(12): Show |
15 | 31 | 0.4839 | -3 | c.767 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111901 | AGAG | A | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00733.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 others(9): Show |
13 | 362 | 0.0359 | -3 | c.916 others(20): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125141708 | AAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(74): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0002g0003 others(73): Show |
77 | 362 | 0.2127 | -3 | c.188 others(20): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151736302 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(37): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0010 a0001c0001t0003g0037 a0001c0001t0004g0079 others(19): Show |
40 | 149 | 0.2685 | -3 | c.138 others(20): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151764616 | CAAA | C | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0021a0001c0001t0022others(1): Show | a0001c0001t0005g0016 a0001c0001t0005g0019 a0001c0001t0005g0049 others(13): Show |
21 | 355 | 0.0592 | -3 | c.*70 others(14): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 3278 | chr3 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151765683 | CAAA | C | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0021a0001c0001t0022 | a0001c0001t0005g0016 a0001c0001t0005g0019 a0001c0001t0005g0049 others(12): Show |
20 | 210 | 0.0952 | -3 | c.*80 others(14): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4345 | chr3 | TogoVar | |||||||
AADACL3_chr1_12711110_12733760 | 12733243 | CTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(115): Show |
a0002a0003a0004others(5): Show | a0002c0003a0002c0018a0002c0019others(13): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0038others(27): Show | a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 others(51): Show |
118 | 397 | 0.2972 | -3 | c.*72 others(14): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4484 | chr1 | TogoVar | |||||||
AADACL4_chr1_12639085_12672076 | 12643448 | CTTT | C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01943.hp1 HG02735.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0192 others(5): Show |
8 | 240 | 0.0333 | -3 | c.-10 others(14): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 636 | chr1 | TogoVar | |||||||
AADAC_chr3_151809116_151833488 | 151819296 | AAAT | A | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(36): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0003c0009others(1): Show | a0001c0001t0001a0003c0003t0001a0003c0009t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0032 others(13): Show |
39 | 438 | 0.0890 | -3 | c.362 others(20): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056417 | CAAA | C | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02965.hp2 HG03041.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0043 others(1): Show |
7 | 340 | 0.0206 | -3 | c.*45 others(14): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3804 | chr4 | TogoVar | |||||||
AADAT_chr4_170055222_170094956 | 170056434 | AAAT | A | downstream_gene_variant | MODIFIER | HG01070.hp1 HG02257.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0034 others(3): Show |
6 | 376 | 0.0160 | -3 | c.*44 others(14): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3787 | chr4 | TogoVar | |||||||
AADAT_chr4_170055222_170094956 | 170056436 | ATAT | A | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0077 a0001c0001t0001g0111 others(1): Show |
4 | 361 | 0.0111 | -3 | c.*44 others(14): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3785 | chr4 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67196162 | CAAA | C | downstream_gene_variant | MODIFIER | HG01256.hp2 HG02559.hp2 HG02647.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0233 a0001c0001t0002g0058 others(4): Show |
8 | 21 | 0.3810 | -3 | c.*66 others(14): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4504 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67207856 | TTTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(231): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0016 others(195): Show |
234 | 378 | 0.6190 | -3 | c.715 others(18): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 7/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67214864 | TCTC | T | intron_variant | MODIFIER | HG03041.hp1 HG03453.hp1 HG03471.hp1 |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0311 a0003c0005t0004g0312 a0003c0005t0004g0313 |
3 | 378 | 0.0079 | -3 | c.536 others(20): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67216442 | GAAA | G | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00558.hp1 others(94): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0009a0001c0001t0020others(4): Show | a0001c0001t0005g0210 a0001c0001t0009g0022 a0001c0001t0020g0043 others(74): Show |
97 | 150 | 0.6467 | -3 | c.536 others(20): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67253260 | CGGG | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(162): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 others(128): Show |
165 | 190 | 0.8684 | -3 | c.73+ others(18): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69458308 | TCTC | T | 3_prime_UTR_variant | MODIFIER | HG02922.hp2 HG02965.hp2 NA19240.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0009a0004c0013 | a0001c0001t0078a0001c0001t0100a0001c0009t0136others(1): Show | a0001c0001t0078g0016 a0001c0001t0100g0108 a0001c0009t0136g0191 others(1): Show |
4 | 296 | 0.0135 | -3 | c.*17 others(16): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 17558 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69464194 | AAAC | A | 3_prime_UTR_variant | MODIFIER | HG01074.hp2 HG02280.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0073a0001c0001t0119a0001c0008t0092 | a0001c0001t0073g0070 a0001c0001t0119g0188 a0001c0008t0092g0129 |
3 | 210 | 0.0143 | -3 | c.*11 others(16): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 11672 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69472795 | ATCT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(20): Show |
a0001a0003a0005others(1): Show | a0001c0004a0001c0008a0003c0014others(2): Show | a0001c0004t0009a0001c0004t0017a0001c0004t0063others(13): Show | a0001c0004t0009g0124 a0001c0004t0009g0147 a0001c0004t0009g0156 others(20): Show |
23 | 296 | 0.0777 | -3 | c.*30 others(14): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 3071 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69514621 | CTGT | C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(100): Show |
a0002a0003 | a0002c0002a0002c0005a0002c0015others(7): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(51): Show | a0002c0002t0002g0018 a0002c0002t0002g0052 a0002c0002t0002g0060 others(100): Show |
103 | 296 | 0.3480 | -3 | c.162 others(12): Show |
p.Gln others(6): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | 2024/21157 | 1623/2886 | 541/961 | chr2 | TogoVar | |||
AAK1_chr2_69452997_69648739 | 69541227 | CTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02717.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0026a0004c0013 | a0001c0001t0002a0001c0001t0059a0001c0001t0100others(3): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0059g0288 others(4): Show |
7 | 246 | 0.0285 | -3 | c.534 others(20): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69548467 | TTTC | T | intron_variant | MODIFIER | HG02257.hp1 HG02922.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001a0001c0026 | a0001c0001t0002a0001c0001t0100a0001c0026t0147 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0100g0108 others(1): Show |
4 | 296 | 0.0135 | -3 | c.283 others(20): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69632590 | TTTG | T | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(50): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(83): Show |
86 | 296 | 0.2905 | -3 | c.163 others(22): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69633599 | CAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp2 others(78): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(50): Show | a0001c0001t0005g0213 a0001c0001t0005g0218 a0001c0001t0005g0231 others(78): Show |
81 | 174 | 0.4655 | -3 | c.163 others(20): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69640302 | TCCA | T | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02109.hp1 others(9): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0041a0001c0001t0054a0001c0001t0059others(7): Show | a0001c0001t0041g0287 a0001c0001t0054g0289 a0001c0001t0059g0288 others(9): Show |
12 | 296 | 0.0405 | -3 | c.163 others(20): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69644165 | TCCC | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(28): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0070a0001c0001t0071others(22): Show | a0001c0001t0002g0051 a0001c0001t0002g0086 a0001c0001t0070g0050 others(28): Show |
31 | 59 | 0.5254 | -3 | c.-82 others(12): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77823214 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(72): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0023 others(69): Show |
75 | 88 | 0.8523 | -3 | c.-19 others(20): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |