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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALPK2_chr18_58476247_58634091 | 58578733 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01515.hp2 HG02486.hp1 others(9): Show |
a0003a0004a0007others(3): Show | a0003c0003a0004c0004a0007c0007others(4): Show | a0003c0003t0001a0003c0003t0004a0004c0004t0002others(7): Show | a0003c0003t0001g0276a0003c0003t0004g0202a0004c0004t0002g0035others(9): Show | 12 | 320 | 0.0375 | 18 | c.196 others(33): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCACACAC others(11): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0249 | 1 | 320 | 0.0031 | 18 | c.-82 others(27): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCTCTCAC others(11): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0127 | 1 | 320 | 0.0031 | 18 | c.-82 others(27): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84847208 | G | GGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0108 | 1 | 340 | 0.0029 | 18 | c.165 others(37): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84850879 | T | TATATACA others(11): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0188 | 1 | 340 | 0.0029 | 18 | c.165 others(37): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPP_chr2_232373751_232387889 | 232385077 | G | GGAAGAAG others(11): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01167.hp2 HG01515.hp1 others(11): Show |
a0001a0002a0022 | a0001c0001a0002c0005a0022c0034 | a0001c0001t0001a0002c0005t0001a0022c0034t0001 | a0001c0001t0001g0001a0002c0005t0001g0005a0022c0034t0001g0001 | 14 | 410 | 0.0342 | 18 | c.*32 others(29): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2189 | chr2 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232385115 | A | AAGAAGAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 410 | 0.0049 | 18 | c.*33 others(29): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2227 | chr2 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232385115 | A | AAGAAGAA others(11): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 410 | 0.0049 | 18 | c.*33 others(29): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2227 | chr2 | TogoVar | ||||||
ALS2CL_chr3_46663995_46698679 | 46665048 | G | GCCATTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0005others(35): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(77): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0014others(203): Show | 369 | 390 | 0.9462 | 18 | c.*59 others(29): Show |
ALS2CL | ENSG00000178038.17 | transcript | ENST00000318962.9 | protein_coding | 3946 | chr3 | TogoVar | ||||||
ALYREF_chr17_81882835_81896586 | 81892542 | T | TTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02717.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006a0001c0002t0001g0010 | 4 | 322 | 0.0124 | 18 | c.-96 others(27): Show |
ALYREF | ENSG00000183684.8 | transcript | ENST00000505490.3 | protein_coding | 957 | chr17 | TogoVar | ||||||
AMACR_chr5_33981165_34013050 | 33991726 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02809.hp1 HG03486.hp1 others(2): Show |
a0001a0003a0009others(1): Show | a0001c0001a0003c0003a0009c0009others(1): Show | a0001c0001t0007a0003c0003t0004a0009c0009t0002others(1): Show | a0001c0001t0007g0165a0003c0003t0004g0193a0003c0003t0004g0197others(2): Show | 5 | 438 | 0.0114 | 18 | c.740 others(35): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
AMACR_chr5_33981165_34013050 | 33991726 | T | TTTTTTAT others(11): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0008 | a0008c0008 | a0008c0008t0011 | a0008c0008t0011g0115 | 1 | 438 | 0.0023 | 18 | c.740 others(35): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
AMACR_chr5_33981165_34013050 | 33996637 | T | TAGCCAGG others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00597.hp1 others(153): Show |
a0001a0002a0008others(5): Show | a0001c0001a0002c0002a0008c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0096others(79): Show | 156 | 438 | 0.3562 | 18 | c.739 others(35): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTCT others(11): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 480 | 0.0021 | 18 | c.-36 others(29): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTCT others(11): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 480 | 0.0021 | 18 | c.-36 others(29): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114066376 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0018a0001c0001t0001g0049others(21): Show | 35 | 454 | 0.0771 | 18 | c.603 others(35): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46400473 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146 | 1 | 160 | 0.0063 | 18 | c.340 others(37): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 17/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46419995 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02630.hp2 HG02976.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0001a0002c0011t0001 | a0001c0001t0001g0036a0001c0001t0001g0039a0001c0001t0001g0040others(5): Show | 8 | 160 | 0.0500 | 18 | c.297 others(37): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46527477 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0090 | 2 | 160 | 0.0125 | 18 | c.207 others(39): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46552368 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 160 | 0.0063 | 18 | c.-12 others(37): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46568803 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 160 | 0.0063 | 18 | c.-12 others(39): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46585695 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 160 | 0.0063 | 18 | c.-12 others(37): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46585695 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 160 | 0.0063 | 18 | c.-12 others(37): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95946576 | G | GCTCCCCC others(11): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01361.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0004 | a0002c0003t0001g0021a0002c0003t0001g0075a0002c0003t0001g0076others(3): Show | 7 | 404 | 0.0173 | 18 | c.137 others(35): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95964928 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03130.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0002c0003t0009 | a0001c0001t0007g0138a0002c0003t0009g0092 | 2 | 404 | 0.0050 | 18 | c.939 others(33): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95971936 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(37): Show | 42 | 404 | 0.1040 | 18 | c.*40 others(29): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 3217 | chr12 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2533430 | A | ATTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01081.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0005a0002c0004t0005 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(8): Show | 22 | 318 | 0.0692 | 18 | c.*38 others(29): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2014 | chr16 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2533460 | T | TTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0034 | 2 | 318 | 0.0063 | 18 | c.*38 others(29): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2044 | chr16 | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTGTGT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0084 | a0001c0003t0084g0157 | 1 | 243 | 0.0041 | 18 | c.*36 others(27): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | |||||
AMER2_chr13_25156679_25177288 | 25174827 | T | TTCCTTCC others(11): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 416 | 0.0024 | 18 | c.-32 others(29): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2540 | chr13 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56359468 | T | TAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0211 | 1 | 356 | 0.0028 | 18 | c.*34 others(29): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1983 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56359469 | T | TAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0209 | 1 | 356 | 0.0028 | 18 | c.*34 others(29): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1982 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56374415 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0209 | 1 | 356 | 0.0028 | 18 | c.138 others(37): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56374415 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG00741.hp1 others(22): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0009a0001c0001t0010a0001c0001t0020others(4): Show | a0001c0001t0009g0210a0001c0001t0009g0211a0001c0001t0009g0212others(22): Show | 25 | 356 | 0.0702 | 18 | c.138 others(37): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56406552 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18964.hp1 NA19058.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0174a0001c0001t0001g0175a0001c0001t0009g0213 | 3 | 356 | 0.0084 | 18 | c.667 others(35): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56425420 | T | TCGCTGCC others(11): Show |
5_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01952.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0001t0048a0001c0002t0012 | a0001c0001t0027g0320a0001c0001t0027g0321a0001c0001t0048g0319others(8): Show | 11 | 356 | 0.0309 | 18 | c.-11 others(26): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 94 | chr16 | TogoVar | |||||
AMIGO1_chr1_109499178_109514727 | 109501054 | T | TACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG02109.hp1 HG02258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0030 | a0001c0001t0005g0005a0001c0001t0030g0033 | 11 | 400 | 0.0275 | 18 | c.*63 others(29): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 3123 | chr1 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109503476 | T | TCATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 NA18940.hp2 NA18942.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0017 | a0001c0001t0002g0002a0001c0001t0002g0008a0001c0001t0011g0012others(1): Show | 13 | 400 | 0.0325 | 18 | c.*39 others(29): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 701 | chr1 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94840654 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0017a0001c0001t0032 | a0001c0001t0007g0227a0001c0001t0017g0203a0001c0001t0032g0068 | 3 | 246 | 0.0122 | 18 | c.164 others(37): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL2_chr3_134350347_134379447 | 134372530 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03471.hp2 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0004g0122a0001c0001t0005g0138a0001c0001t0009g0123others(1): Show | 4 | 336 | 0.0119 | 18 | c.-61 others(35): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10450339 | A | AGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122 | 1 | 390 | 0.0026 | 18 | c.-51 others(29): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 4924 | chr11 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38406713 | C | CCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0285 | 1 | 288 | 0.0035 | 18 | c.139 others(39): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38406728 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03492.hp1 NA18612.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0049a0001c0001t0001g0205a0001c0001t0001g0215others(1): Show | 4 | 288 | 0.0139 | 18 | c.139 others(39): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38407021 | C | CCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01975.hp1 HG02165.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0067a0001c0002t0002g0115a0001c0002t0002g0233others(3): Show | 6 | 288 | 0.0208 | 18 | c.139 others(39): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38407048 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 |
a0001 | a0001c0003a0001c0017 | a0001c0003t0002a0001c0017t0004 | a0001c0003t0002g0003a0001c0017t0004g0080 | 2 | 288 | 0.0069 | 18 | c.139 others(39): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38407048 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0014 | 1 | 288 | 0.0035 | 18 | c.139 others(39): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38407048 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 288 | 0.0035 | 18 | c.139 others(39): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38416102 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03490.hp1 NA20129.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0004 | a0001c0001t0001g0056a0001c0001t0001g0059a0003c0006t0004g0061 | 3 | 288 | 0.0104 | 18 | c.139 others(37): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38433724 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0013a0001c0005t0004g0139 | 2 | 288 | 0.0069 | 18 | c.113 others(37): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 12/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38441790 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0040a0001c0001t0001g0041others(33): Show | 36 | 288 | 0.1250 | 18 | c.101 others(37): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 11/20 | chr7 | TogoVar |