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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOX1_chr2_200581014_200676495 | 200630548 | G | GAGGA | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00639.hp1 others(43): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0041others(43): Show | 46 | 370 | 0.1243 | 4 | c.222 others(23): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200643386 | T | TACAC | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02723.hp2 others(8): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0003c0006others(1): Show | a0001c0001t0002a0003c0003t0001a0003c0003t0004others(2): Show | a0001c0001t0002g0091a0001c0001t0002g0156a0001c0001t0002g0157others(8): Show | 11 | 370 | 0.0297 | 4 | c.284 others(21): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200643398 | C | CACAT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(80): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0019a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0054a0001c0001t0001g0121others(78): Show | 83 | 370 | 0.2243 | 4 | c.284 others(21): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200643398 | C | CATAT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00642.hp1 others(65): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(4): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(65): Show | 68 | 370 | 0.1838 | 4 | c.284 others(21): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200647140 | T | TTTTG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(203): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0014a0001c0019others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0020others(200): Show | 206 | 370 | 0.5568 | 4 | c.284 others(23): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200657165 | A | AATAT | intron_variant | MODIFIER | HG03491.hp2 HG03834.hp2 NA18942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0235others(1): Show | 4 | 370 | 0.0108 | 4 | c.317 others(21): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200657190 | A | ATTTT | intron_variant | MODIFIER | HG02970.hp2 HG03139.hp1 NA18747.hp1 others(7): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0072a0001c0001t0001g0321a0001c0001t0002g0113others(7): Show | 10 | 370 | 0.0270 | 4 | c.317 others(21): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200659786 | T | TCACA | intron_variant | MODIFIER | HG01192.hp1 HG01261.hp2 HG01884.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(1): Show | a0001c0001t0001g0072a0001c0001t0001g0121a0001c0001t0001g0168others(8): Show | 11 | 370 | 0.0297 | 4 | c.330 others(21): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200659793 | C | CACAT | intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 HG03540.hp2 others(5): Show |
a0003a0014 | a0003c0003a0003c0018a0014c0024 | a0003c0003t0001a0003c0003t0004a0003c0018t0001others(1): Show | a0003c0003t0001g0226a0003c0003t0001g0248a0003c0003t0001g0249others(5): Show | 8 | 370 | 0.0216 | 4 | c.330 others(21): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200663545 | A | AACAC | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(52): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(52): Show | 55 | 370 | 0.1487 | 4 | c.354 others(21): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1B1_chr22_29322680_29393570 | 29324748 | C | CAAAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00735.hp1 others(22): Show |
a0001 | a0001c0002a0001c0003a0001c0009 | a0001c0002t0001a0001c0003t0001a0001c0009t0001 | a0001c0002t0001g0010a0001c0002t0001g0052a0001c0002t0001g0250others(22): Show | 25 | 378 | 0.0661 | 4 | c.*40 others(15): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2931 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29355460 | T | TAAAC | intron_variant | MODIFIER | HG00609.hp2 NA18975.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0226 | 3 | 378 | 0.0079 | 4 | c.717 others(19): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 6/22 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29366833 | G | GACAC | intron_variant | MODIFIER | HG00544.hp1 HG01069.hp1 HG01192.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(5): Show | a0001c0001t0001g0185a0001c0001t0001g0199a0001c0001t0001g0213others(21): Show | 24 | 378 | 0.0635 | 4 | c.37+ others(17): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29368713 | T | TGACG | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01243.hp1 others(10): Show |
a0001 | a0001c0003a0001c0010 | a0001c0003t0001a0001c0003t0003a0001c0010t0003 | a0001c0003t0001g0092a0001c0003t0001g0093a0001c0003t0001g0094others(10): Show | 13 | 378 | 0.0344 | 4 | c.-27 others(21): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29374285 | G | GAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(258): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(245): Show | 261 | 378 | 0.6905 | 4 | c.-27 others(21): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29390582 | T | TTTTA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(84): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0027others(78): Show | 87 | 378 | 0.2302 | 4 | c.-21 others(15): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2013 | chr22 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71736551 | A | ATTAT | intron_variant | MODIFIER | HG02523.hp1 HG02572.hp2 NA18962.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0040a0002c0002t0001others(1): Show | a0001c0001t0003g0293a0001c0001t0003g0304a0001c0001t0040g0238others(3): Show | 6 | 320 | 0.0188 | 4 | c.226 others(23): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71744571 | G | GTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp2 HG02071.hp2 others(13): Show |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0002c0002t0039a0003c0005t0001 | a0002c0002t0001g0048a0002c0002t0001g0095a0002c0002t0001g0111others(13): Show | 16 | 320 | 0.0500 | 4 | c.199 others(21): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 19/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01123.hp1 HG01255.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0006a0002c0002t0021others(1): Show | a0001c0001t0004g0040a0002c0002t0006g0104a0002c0002t0006g0105others(5): Show | 8 | 320 | 0.0250 | 4 | c.-3- others(19): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71808204 | C | CAACA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(275): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0002g0044a0001c0001t0002g0133a0001c0001t0002g0194others(274): Show | 278 | 320 | 0.8688 | 4 | c.-4+ others(17): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71809908 | A | ATTTT | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01358.hp2 HG01361.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0009a0001c0004t0007 | a0001c0001t0005g0063a0001c0001t0009g0085a0001c0001t0009g0086others(2): Show | 5 | 320 | 0.0156 | 4 | c.-11 others(15): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1075 | chr16 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16214052 | C | CTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG00735.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0008a0001c0001t0020others(24): Show | a0001c0001t0004g0241a0001c0001t0004g0252a0001c0001t0004g0253others(34): Show | 37 | 308 | 0.1201 | 4 | c.546 others(21): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16222595 | T | TTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0020others(103): Show | a0001c0001t0004g0226a0001c0001t0004g0229a0001c0001t0004g0237others(170): Show | 173 | 308 | 0.5617 | 4 | c.547 others(21): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16240242 | C | CTGTG | 3_prime_UTR_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0091a0001c0001t0104a0001c0001t0108others(1): Show | a0001c0001t0091g0022a0001c0001t0104g0021a0001c0001t0108g0188others(1): Show | 4 | 308 | 0.0130 | 4 | c.*58 others(15): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 5839 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16244837 | A | AAAAT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(52): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0008a0001c0001t0020others(35): Show | a0001c0001t0004g0226a0001c0001t0004g0229a0001c0001t0004g0237others(52): Show | 55 | 308 | 0.1786 | 4 | c.*10 others(17): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10429 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16250292 | A | ATGTG | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01081.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0013a0001c0001t0024others(22): Show | a0001c0001t0003g0009a0001c0001t0003g0181a0001c0001t0003g0183others(32): Show | 35 | 308 | 0.1136 | 4 | c.*15 others(17): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4387 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0009a0001c0002t0004others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0061a0001c0001t0001g0070others(31): Show | 34 | 394 | 0.0863 | 4 | c.*25 others(15): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10571167 | C | CTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0233a0001c0002t0001g0018a0001c0002t0001g0093others(43): Show | 55 | 394 | 0.1396 | 4 | c.*18 others(15): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1503 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10577423 | C | CTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0045others(30): Show | 37 | 394 | 0.0939 | 4 | c.889 others(17): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 8/11 | chr19 | TogoVar | ||||||
AP1S1_chr7_101149476_101166276 | 101159984 | G | GCACA | intron_variant | MODIFIER | HG01934.hp1 HG02622.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017a0001c0001t0002g0043 | 4 | 432 | 0.0093 | 4 | c.430 others(19): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AP1S1_chr7_101149476_101166276 | 101165786 | A | AAATG | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0074a0001c0001t0006g0001a0001c0001t0006g0023 | 7 | 432 | 0.0162 | 4 | c.*52 others(15): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 4511 | chr7 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15823017 | C | CAAAA | downstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 318 | 0.0031 | 4 | c.*43 others(15): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 2788 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | AATAT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0006a0001c0001t0002g0087a0001c0001t0002g0105others(4): Show | 12 | 318 | 0.0377 | 4 | c.427 others(21): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223756403 | A | AAGGG | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0024others(3): Show | a0001c0001t0006g0023a0001c0001t0006g0026a0001c0001t0006g0072others(21): Show | 24 | 340 | 0.0706 | 4 | c.*23 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2311 | chr2 | TogoVar | |||||
AP1S3_chr2_223750326_223842582 | 223756449 | A | AAAAG | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0021a0001c0003t0021 | a0001c0001t0021g0323a0001c0001t0021g0336a0001c0003t0021g0320 | 3 | 340 | 0.0088 | 4 | c.*22 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2265 | chr2 | TogoVar | |||||
AP1S3_chr2_223750326_223842582 | 223770497 | T | TACAC | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG01884.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0017others(4): Show | a0001c0001t0005g0269a0001c0001t0005g0298a0001c0001t0007g0061others(12): Show | 15 | 340 | 0.0441 | 4 | c.292 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223770727 | A | ATTTT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01109.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0003g0028a0001c0001t0003g0034a0001c0001t0003g0037others(35): Show | 38 | 340 | 0.1118 | 4 | c.291 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223774372 | T | TAATA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(60): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0006 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0004g0009a0001c0001t0004g0073a0001c0001t0004g0091others(60): Show | 63 | 340 | 0.1853 | 4 | c.291 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780276 | A | AATAT | intron_variant | MODIFIER | HG00544.hp1 HG01496.hp1 HG01515.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0132a0001c0001t0001g0148a0001c0001t0001g0151others(10): Show | 13 | 340 | 0.0382 | 4 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780347 | A | AGTGT | intron_variant | MODIFIER | HG01993.hp2 HG02300.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0016others(1): Show | a0001c0001t0003g0019a0001c0001t0008g0243a0001c0001t0016g0047others(2): Show | 5 | 340 | 0.0147 | 4 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780349 | A | AGTGT | intron_variant | MODIFIER | HG02572.hp2 NA18947.hp2 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039a0001c0001t0002g0080a0001c0001t0002g0081others(1): Show | 4 | 340 | 0.0118 | 4 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780353 | A | AGTGT | intron_variant | MODIFIER | HG00438.hp1 HG02109.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0051a0001c0001t0002g0097a0001c0001t0005g0334 | 3 | 340 | 0.0088 | 4 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223789674 | C | CAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01981.hp1 HG02056.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0058others(3): Show | a0001c0001t0002g0007a0001c0001t0002g0038a0001c0001t0002g0060others(8): Show | 11 | 340 | 0.0324 | 4 | c.4-1 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223794984 | C | CAGTG | intron_variant | MODIFIER | NA18964.hp2 NA19001.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0237a0001c0001t0010g0274a0001c0001t0010g0275 | 3 | 340 | 0.0088 | 4 | c.4-1 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223799208 | G | GACAC | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01361.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0204a0001c0001t0005g0266a0001c0001t0005g0269others(6): Show | 9 | 340 | 0.0265 | 4 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223807867 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0110a0001c0001t0001g0119others(37): Show | 41 | 340 | 0.1206 | 4 | c.3+2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223825312 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(61): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0110a0001c0001t0001g0119others(60): Show | 64 | 340 | 0.1882 | 4 | c.3+1 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223832135 | C | CTGTG | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01070.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0249a0001c0001t0001g0295a0001c0001t0001g0296others(11): Show | 14 | 340 | 0.0412 | 4 | c.3+5 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223833239 | A | AAAAT | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01168.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(7): Show | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0133others(22): Show | 25 | 340 | 0.0735 | 4 | c.3+4 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223833241 | A | AATAC | intron_variant | MODIFIER | HG01978.hp1 HG02055.hp1 HG02257.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0001t0001g0249others(27): Show | 30 | 340 | 0.0882 | 4 | c.3+4 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar |