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 | 50856800 | TGTG | T | intron_variant | MODIFIER | HG00735.hp2 HG03225.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 | 3 | 338 | 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 | a0001c0001t0008g0006a0001c0001t0008g0098a0001c0001t0009g0026others(16): Show | 22 | 338 | 0.0651 | -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 | a0001c0001t0001g0024a0001c0001t0001g0099 | 3 | 338 | 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 | a0001c0001t0001g0004a0001c0001t0001g0169a0001c0001t0001g0197others(3): Show | 6 | 338 | 0.0178 | -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 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0002a0002c0004t0003 | a0001c0001t0001g0350a0001c0002t0002g0349a0002c0004t0003g0348 | 3 | 368 | 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 |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0205a0001c0001t0001g0206a0001c0001t0001g0208others(10): Show | 13 | 368 | 0.0353 | -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(309): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0006others(44): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(303): Show | 312 | 368 | 0.8478 | -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 |
a0002a0004a0009others(10): Show | a0002c0004a0002c0061a0004c0014others(18): Show | a0002c0004t0003a0002c0061t0004a0004c0014t0004others(19): Show | a0002c0004t0003g0124a0002c0061t0004g0314a0004c0014t0004g0159others(29): Show | 33 | 368 | 0.0897 | -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 |
a0002a0003a0004others(5): Show | a0002c0004a0002c0007a0003c0005others(11): Show | a0002c0004t0001a0002c0004t0003a0002c0007t0001others(16): Show | a0002c0004t0001g0299a0002c0004t0001g0338a0002c0004t0003g0002others(71): Show | 76 | 368 | 0.2065 | -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 |
a0001a0004a0011others(3): Show | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0002t0002a0001c0006t0002others(8): Show | a0001c0001t0001g0071a0001c0001t0001g0114a0001c0001t0001g0135others(26): Show | 29 | 368 | 0.0788 | -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 |
a0004a0010a0015others(1): Show | a0004c0014a0004c0040a0004c0064others(4): Show | a0004c0014t0004a0004c0040t0004a0004c0064t0002others(4): Show | a0004c0014t0004g0159a0004c0014t0004g0215a0004c0014t0004g0238others(9): Show | 12 | 368 | 0.0326 | -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 | a0001c0001t0001g0023a0001c0001t0001g0028a0001c0001t0001g0029others(36): Show | 41 | 332 | 0.1235 | -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 |
a0001a0002a0009others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0005t0002a0002c0002t0002others(3): Show | a0001c0001t0002g0104a0001c0001t0002g0106a0001c0001t0002g0141others(57): Show | 72 | 332 | 0.2169 | -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 |
a0001a0002a0009others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0005t0002a0002c0002t0002others(3): Show | a0001c0001t0002g0005a0001c0001t0002g0088a0001c0001t0002g0089others(64): Show | 81 | 332 | 0.2440 | -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 | a0001c0001t0004g0234a0001c0001t0004g0235a0001c0001t0004g0246others(16): Show | 19 | 406 | 0.0468 | -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(10): Show | a0001c0001t0002g0187a0001c0001t0002g0203a0001c0001t0002g0326others(106): Show | 111 | 406 | 0.2734 | -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(22): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0101others(222): Show | 230 | 406 | 0.5665 | -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 | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0002g0115others(5): Show | 8 | 406 | 0.0197 | -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(15): Show | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(39): Show | 42 | 406 | 0.1035 | -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 | a0003c0006t0001 | a0003c0006t0001g0027a0003c0006t0001g0074 | 3 | 398 | 0.0075 | -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(69): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(15): Show | a0001c0001t0001g0277a0001c0001t0001g0278a0001c0001t0001g0333others(67): Show | 72 | 364 | 0.1978 | -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 |
a0001a0002a0006others(1): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(36): Show | 40 | 364 | 0.1099 | -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 |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0024 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0091a0001c0001t0001g0093a0001c0001t0001g0097others(12): Show | 15 | 364 | 0.0412 | -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 | a0001c0001t0001g0091a0001c0001t0001g0093a0001c0001t0001g0109others(10): Show | 13 | 364 | 0.0357 | -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 | a0001c0001t0001g0169a0001c0001t0001g0196a0001c0001t0002g0002others(73): Show | 77 | 364 | 0.2115 | -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 | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(13): Show | a0001c0001t0003g0010a0001c0001t0006g0016a0001c0001t0006g0021others(25): Show | 40 | 428 | 0.0935 | -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 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | -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 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(2): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(12): Show | 20 | 428 | 0.0467 | -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(116): Show |
a0002a0003a0004others(5): Show | a0002c0003a0002c0018a0002c0019others(13): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(28): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(51): Show | 119 | 432 | 0.2755 | -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 | a0001c0001t0001g0178a0001c0001t0001g0184a0001c0001t0001g0193others(5): Show | 8 | 310 | 0.0258 | -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 |
a0001a0003a0004 | a0001c0001a0003c0003a0003c0009others(1): Show | a0001c0001t0001a0003c0003t0001a0003c0009t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0024a0001c0001t0001g0033others(13): Show | 39 | 440 | 0.0886 | -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 | a0001c0001t0001g0003a0001c0001t0001g0021a0001c0001t0001g0044others(1): Show | 7 | 378 | 0.0185 | -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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0036others(3): Show | 6 | 378 | 0.0159 | -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 | a0001c0001t0001g0042a0001c0001t0001g0078a0001c0001t0001g0112others(1): Show | 4 | 378 | 0.0106 | -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 | a0001c0001t0001g0009a0001c0001t0001g0267a0001c0001t0002g0043others(4): Show | 8 | 380 | 0.0211 | -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(232): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0002g0003a0001c0001t0002g0026a0001c0001t0002g0027others(226): Show | 235 | 380 | 0.6184 | -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 | a0003c0005t0004g0356a0003c0005t0004g0357a0003c0005t0004g0358 | 3 | 380 | 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 | a0001c0001t0005g0235a0001c0001t0009g0006a0001c0001t0020g0023others(91): Show | 97 | 380 | 0.2553 | -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 | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0014others(149): Show | 165 | 380 | 0.4342 | -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 | a0001c0001t0083a0001c0001t0105a0001c0009t0141others(1): Show | a0001c0001t0083g0016a0001c0001t0105g0108a0001c0009t0141g0191others(1): Show | 4 | 298 | 0.0134 | -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 | a0001c0001t0077a0001c0001t0124a0001c0008t0097 | a0001c0001t0077g0072a0001c0001t0124g0188a0001c0008t0097g0131 | 3 | 298 | 0.0101 | -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 | a0001c0004t0010a0001c0004t0017a0001c0004t0067others(13): Show | a0001c0004t0010g0127a0001c0004t0010g0148a0001c0004t0010g0156others(20): Show | 23 | 298 | 0.0772 | -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 |
a0002a0003a0006others(1): Show | a0002c0002a0002c0005a0002c0016others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(52): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(100): Show | 103 | 298 | 0.3456 | -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 | a0001c0001t0008a0001c0001t0063a0001c0001t0105others(3): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0063g0288others(4): Show | 7 | 298 | 0.0235 | -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 | a0001c0001t0008a0001c0001t0105a0001c0026t0152 | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0105g0108others(1): Show | 4 | 298 | 0.0134 | -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(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(51): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(83): Show | 86 | 298 | 0.2886 | -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(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(51): Show | a0001c0001t0004g0216a0001c0001t0004g0221a0001c0001t0004g0233others(78): Show | 81 | 298 | 0.2718 | -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 | a0001c0001t0045a0001c0001t0057a0001c0001t0063others(7): Show | a0001c0001t0045g0287a0001c0001t0057g0291a0001c0001t0063g0288others(9): Show | 12 | 298 | 0.0403 | -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 |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0074others(23): Show | a0001c0001t0007g0049a0001c0001t0008g0084a0001c0001t0074g0048others(28): Show | 31 | 298 | 0.1040 | -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 | a0001c0002t0001g0012a0001c0002t0001g0014a0001c0002t0001g0019others(70): Show | 75 | 382 | 0.1963 | -3 | c.-19 others(20): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |