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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADSS1_chr14_104719229_104752310 | 104745924 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(235): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0019others(164): Show | 238 | 402 | 0.5920 | 2 | c.117 others(19): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 11/12 | chr14 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244432660 | C | CTT | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00597.hp2 others(118): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0023a0001c0001t0001g0044a0001c0001t0001g0045others(87): Show | 121 | 408 | 0.2966 | 2 | c.356 others(15): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 3/12 | chr1 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244433859 | T | TAA | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG02145.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0093a0001c0001t0001g0095a0001c0001t0001g0099others(5): Show | 8 | 408 | 0.0196 | 2 | c.356 others(19): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 3/12 | chr1 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244435168 | C | CAA | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01081.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0045a0001c0001t0001g0235others(16): Show | 31 | 408 | 0.0760 | 2 | c.355 others(19): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 3/12 | chr1 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244438598 | C | CAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(334): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(241): Show | 337 | 408 | 0.8260 | 2 | c.184 others(17): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244442242 | T | TAC | intron_variant | MODIFIER | HG03017.hp1 NA18946.hp1 NA18978.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0069a0001c0001t0002g0185a0001c0001t0002g0186others(3): Show | 8 | 408 | 0.0196 | 2 | c.184 others(19): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244445648 | T | TAA | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00597.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0010others(48): Show | 74 | 408 | 0.1814 | 2 | c.183 others(19): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11714406 | G | GAA | 3_prime_UTR_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG01243.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0002a0001c0001t0006g0012a0001c0001t0006g0113others(6): Show | 11 | 410 | 0.0268 | 2 | c.*70 others(9): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 6/6 | 71 | chr6 | TogoVar | |||||
ADTRP_chr6_11708523_11783803 | 11715648 | C | CTT | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01496.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0093a0001c0001t0002g0096a0001c0001t0002g0162others(11): Show | 14 | 410 | 0.0342 | 2 | c.659 others(19): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11719895 | A | ACT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(329): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(318): Show | 332 | 410 | 0.8098 | 2 | c.658 others(19): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11720475 | C | CTT | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01109.hp2 others(83): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0265a0001c0001t0002g0017a0001c0001t0002g0058others(82): Show | 86 | 410 | 0.2098 | 2 | c.658 others(19): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11734706 | A | ACT | intron_variant | MODIFIER | HG00558.hp1 HG01255.hp1 HG01346.hp1 others(69): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0265a0001c0001t0002g0017a0001c0001t0002g0058others(68): Show | 72 | 410 | 0.1756 | 2 | c.506 others(17): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11736220 | A | AAC | intron_variant | MODIFIER | HG03098.hp1 HG03209.hp2 NA18946.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0133a0001c0001t0002g0204a0001c0001t0002g0205 | 3 | 410 | 0.0073 | 2 | c.391 others(17): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 3/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11737816 | T | TGA | intron_variant | MODIFIER | HG02257.hp2 HG02735.hp1 HG03239.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012a0001c0001t0006g0328a0001c0001t0006g0329 | 4 | 410 | 0.0098 | 2 | c.391 others(19): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 3/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11741716 | T | TAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0138a0001c0001t0002g0052a0001c0001t0002g0053others(17): Show | 20 | 410 | 0.0488 | 2 | c.391 others(19): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 3/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11745170 | A | ATC | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(107): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(102): Show | 110 | 410 | 0.2683 | 2 | c.391 others(19): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 3/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11758575 | T | TGG | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0051a0001c0001t0001g0133a0001c0001t0001g0249others(82): Show | 86 | 410 | 0.2098 | 2 | c.390 others(19): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 3/5 | chr6 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11765319 | G | GTT | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp1 others(105): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(101): Show | 108 | 410 | 0.2634 | 2 | c.390 others(17): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 3/5 | chr6 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19436587 | C | CTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(137): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0092a0001c0001t0003g0307a0001c0001t0003g0310others(136): Show | 140 | 404 | 0.3465 | 2 | c.-31 others(13): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 2904 | chr12 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19452961 | C | CTT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01175.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0003g0311a0001c0001t0003g0321a0001c0001t0003g0376others(10): Show | 13 | 404 | 0.0322 | 2 | c.672 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19453424 | C | CTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(94): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0003g0307a0001c0001t0003g0310a0001c0001t0003g0311others(93): Show | 97 | 404 | 0.2401 | 2 | c.672 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19463667 | A | ATT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(67): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0003g0307a0001c0001t0003g0310a0001c0001t0003g0311others(67): Show | 70 | 404 | 0.1733 | 2 | c.879 others(17): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19465794 | T | TTC | intron_variant | MODIFIER | NA18953.hp2 NA18972.hp1 NA18982.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019a0001c0001t0046 | a0001c0001t0016g0035a0001c0001t0016g0036a0001c0001t0016g0039others(4): Show | 7 | 404 | 0.0173 | 2 | c.879 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19468126 | T | TTG | intron_variant | MODIFIER | HG01261.hp2 HG02622.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0037 | a0001c0001t0002g0212a0001c0001t0002g0213a0001c0001t0037g0203 | 3 | 404 | 0.0074 | 2 | c.880 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19479717 | G | GTT | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG01074.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0002g0183a0001c0001t0002g0185a0001c0001t0002g0213others(38): Show | 41 | 404 | 0.1015 | 2 | c.987 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19480587 | A | ATT | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 NA18953.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0017a0001c0001t0019others(1): Show | a0001c0001t0016g0035a0001c0001t0016g0036a0001c0001t0016g0038others(8): Show | 11 | 404 | 0.0272 | 2 | c.987 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19481092 | C | CTT | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01069.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0002g0170a0001c0001t0002g0179a0001c0001t0002g0202others(31): Show | 34 | 404 | 0.0842 | 2 | c.987 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19485708 | C | CAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(202): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0061others(201): Show | 205 | 404 | 0.5074 | 2 | c.988 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19489990 | C | CTT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00735.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0094a0001c0001t0001g0108a0001c0001t0001g0121others(37): Show | 40 | 404 | 0.0990 | 2 | c.988 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19491855 | T | TGA | intron_variant | MODIFIER | NA18953.hp2 NA18972.hp1 NA18982.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019a0001c0001t0046 | a0001c0001t0016g0035a0001c0001t0016g0036a0001c0001t0016g0038others(5): Show | 8 | 404 | 0.0198 | 2 | c.988 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19497328 | G | GTT | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00738.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0165a0001c0001t0002g0170a0001c0001t0002g0175others(35): Show | 38 | 404 | 0.0941 | 2 | c.117 others(21): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19499614 | T | TAA | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01081.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(12): Show | a0001c0001t0001g0045a0001c0001t0001g0051a0001c0001t0001g0052others(52): Show | 55 | 404 | 0.1361 | 2 | c.117 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 4/7 | chr12 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19499746 | G | GAT | intron_variant | MODIFIER | NA18953.hp2 NA18972.hp1 NA18982.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019a0001c0001t0046 | a0001c0001t0016g0035a0001c0001t0016g0036a0001c0001t0016g0038others(5): Show | 8 | 404 | 0.0198 | 2 | c.117 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19501799 | T | TTG | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp2 HG01167.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0022others(1): Show | a0001c0001t0005g0129a0001c0001t0005g0130a0001c0001t0005g0131others(27): Show | 30 | 404 | 0.0743 | 2 | c.129 others(21): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19503328 | G | GGT | intron_variant | MODIFIER | HG02083.hp1 HG02280.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(2): Show | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0108others(6): Show | 9 | 404 | 0.0223 | 2 | c.129 others(21): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19503329 | G | GTA | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(37): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0001t0014a0001c0001t0016others(7): Show | a0001c0001t0006g0005a0001c0001t0006g0006a0001c0001t0006g0007others(37): Show | 40 | 404 | 0.0990 | 2 | c.129 others(21): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19503347 | A | ATG | intron_variant | MODIFIER | NA18953.hp2 NA18972.hp1 NA18982.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019a0001c0001t0046 | a0001c0001t0016g0035a0001c0001t0016g0036a0001c0001t0016g0038others(5): Show | 8 | 404 | 0.0198 | 2 | c.129 others(21): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19509820 | C | CTT | intron_variant | MODIFIER | HG02148.hp2 HG02622.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015 | a0001c0001t0005g0132a0001c0001t0005g0153a0001c0001t0005g0154others(3): Show | 6 | 404 | 0.0149 | 2 | c.130 others(21): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19513329 | T | TTA | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp2 HG01167.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0022others(1): Show | a0001c0001t0005g0129a0001c0001t0005g0130a0001c0001t0005g0131others(33): Show | 36 | 404 | 0.0891 | 2 | c.136 others(19): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 6/7 | chr12 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19518218 | C | CTT | 3_prime_UTR_variant | MODIFIER | HG01496.hp2 HG02027.hp1 NA18950.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0324a0001c0001t0012g0333a0001c0001t0012g0335others(3): Show | 6 | 404 | 0.0149 | 2 | c.*12 others(11): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 8/8 | 122 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
AEBP2_chr12_19434492_19527227 | 19523743 | A | ATC | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG01891.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0010a0001c0001t0041others(3): Show | a0001c0001t0001g0239a0001c0001t0001g0240a0001c0001t0001g0241others(15): Show | 18 | 404 | 0.0446 | 2 | c.*56 others(13): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 1517 | chr12 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19525233 | C | CTT | downstream_gene_variant | MODIFIER | NA18953.hp2 NA18972.hp1 NA18982.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019a0001c0001t0046 | a0001c0001t0016g0035a0001c0001t0016g0036a0001c0001t0016g0038others(5): Show | 8 | 404 | 0.0198 | 2 | c.*71 others(13): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3007 | chr12 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19526952 | C | CAT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(332): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0045a0001c0001t0001g0051a0001c0001t0001g0052others(331): Show | 335 | 404 | 0.8292 | 2 | c.*88 others(13): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 4726 | chr12 | TogoVar | ||||||
AEN_chr15_88616340_88637281 | 88633966 | A | ATT | downstream_gene_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG01884.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0013a0002c0002t0002a0002c0002t0003others(2): Show | a0001c0001t0013g0016a0002c0002t0002g0049a0002c0002t0003g0002others(2): Show | 7 | 440 | 0.0159 | 2 | c.*36 others(13): Show |
AEN | ENSG00000181026.15 | transcript | ENST00000332810.4 | protein_coding | 1686 | chr15 | TogoVar | ||||||
AFAP1L1_chr5_149266859_149348637 | 149270306 | T | TCA | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01074.hp1 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0173a0001c0001t0001g0181a0001c0001t0001g0184others(32): Show | 37 | 286 | 0.1294 | 2 | c.-16 others(13): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 1552 | chr5 | TogoVar | ||||||
AFAP1L1_chr5_149266859_149348637 | 149307818 | T | TTC | intron_variant | MODIFIER | HG01168.hp2 HG01175.hp2 HG01192.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0122others(10): Show | 13 | 286 | 0.0455 | 2 | c.747 others(17): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AFAP1L1_chr5_149266859_149348637 | 149321722 | C | CAA | intron_variant | MODIFIER | HG01261.hp1 HG02257.hp2 HG03098.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0059a0001c0001t0001g0209a0001c0001t0001g0214others(4): Show | 7 | 286 | 0.0245 | 2 | c.169 others(19): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AFAP1L1_chr5_149266859_149348637 | 149333909 | A | ATG | intron_variant | MODIFIER | HG00423.hp2 HG01071.hp2 HG01074.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0014a0001c0001t0019others(1): Show | a0001c0001t0004g0024a0001c0001t0004g0035a0001c0001t0004g0038others(15): Show | 19 | 286 | 0.0664 | 2 | c.215 others(21): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AFAP1L1_chr5_149266859_149348637 | 149346715 | A | ATT | downstream_gene_variant | MODIFIER | HG00438.hp1 HG02622.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0069a0001c0001t0001g0110a0001c0001t0001g0112others(5): Show | 8 | 286 | 0.0280 | 2 | c.*66 others(13): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 3079 | chr5 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114295016 | T | TAA | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(118): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0004a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0017others(10): Show | a0001c0001t0001g0035a0001c0001t0001g0039a0001c0001t0001g0040others(118): Show | 121 | 262 | 0.4618 | 2 | c.*10 others(13): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 19/19 | 1025 | chr10 | TogoVar |