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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AATF_chr17_36943954_37061871 | 37053376 | CAATT | C | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0086others(5): Show | 8 | 245 | 0.0327 | -4 | c.162 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATK_chr17_81112295_81171221 | 81116738 | CTGTT | C | downstream_gene_variant | MODIFIER | HG02451.hp2 HG03209.hp1 HG03688.hp2 |
a0006a0022 | a0006c0012a0022c0054 | a0006c0012t0010a0022c0054t0001 | a0006c0012t0010g0106a0006c0012t0010g0250a0022c0054t0001g0225 | 3 | 368 | 0.0082 | -4 | c.*16 others(15): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 556 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81117472 | CAGTT | C | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(7): Show |
a0009a0019a0020others(2): Show | a0009c0019a0009c0025a0009c0065others(4): Show | a0009c0019t0004a0009c0025t0004a0009c0065t0004others(4): Show | a0009c0019t0004g0237a0009c0019t0004g0238a0009c0019t0004g0239others(7): Show | 10 | 368 | 0.0272 | -4 | c.*92 others(13): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 14/14 | 926 | chr17 | TogoVar | |||||
AATK_chr17_81112295_81171221 | 81119206 | CCAGG | C | intron_variant | MODIFIER | HG00738.hp1 HG02257.hp1 HG02630.hp1 others(4): Show |
a0001a0003a0005others(2): Show | a0001c0004a0003c0007a0005c0006others(2): Show | a0001c0004t0001a0003c0007t0001a0005c0006t0003others(2): Show | a0001c0004t0001g0053a0003c0007t0001g0121a0003c0007t0001g0190others(4): Show | 7 | 368 | 0.0190 | -4 | c.408 others(21): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81138170 | CACTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(6): Show |
a0001a0006a0007others(3): Show | a0001c0004a0006c0042a0006c0056others(5): Show | a0001c0004t0002a0006c0042t0011a0006c0056t0011others(5): Show | a0001c0004t0002g0075a0006c0042t0011g0335a0006c0056t0011g0332others(6): Show | 9 | 368 | 0.0245 | -4 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81141917 | CTCCT | C | intron_variant | MODIFIER | HG01261.hp1 HG01516.hp1 HG01517.hp2 |
a0002a0003 | a0002c0002a0003c0047 | a0002c0002t0001a0003c0047t0001 | a0002c0002t0001g0017a0003c0047t0001g0303 | 3 | 368 | 0.0082 | -4 | c.56- others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81148064 | CAAAA | C | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02615.hp1 others(7): Show |
a0003a0004a0005others(4): Show | a0003c0027a0004c0062a0005c0006others(5): Show | a0003c0027t0001a0004c0062t0001a0005c0006t0003others(6): Show | a0003c0027t0001g0281a0004c0062t0001g0200a0005c0006t0003g0230others(7): Show | 10 | 368 | 0.0272 | -4 | c.56- others(21): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81148802 | ACACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(142): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0040others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(41): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076others(135): Show | 145 | 368 | 0.3940 | -4 | c.56- others(21): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81156094 | CAATG | C | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00735.hp2 others(72): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0011others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(31): Show | a0001c0001t0001g0014a0001c0001t0001g0242a0001c0001t0001g0255others(69): Show | 75 | 368 | 0.2038 | -4 | c.55+ others(19): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81170124 | ATGTG | A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02109.hp2 others(12): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0004a0003c0027others(8): Show | a0001c0001t0001a0001c0004t0002a0003c0027t0001others(8): Show | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0001g0127others(12): Show | 15 | 368 | 0.0408 | -4 | c.-41 others(15): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 3904 | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8671167 | ATTAT | A | upstream_gene_variant | MODIFIER | HG01257.hp1 HG02735.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0227a0001c0001t0002g0034a0001c0001t0002g0226 | 3 | 362 | 0.0083 | -4 | c.-35 others(15): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 3449 | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8673396 | CTGTG | C | upstream_gene_variant | MODIFIER | HG02698.hp1 HG03942.hp1 HG04184.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0039a0002c0002t0002 | a0001c0001t0001g0099a0001c0001t0001g0108a0001c0001t0001g0253others(2): Show | 5 | 362 | 0.0138 | -4 | c.-13 others(15): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1220 | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8682224 | CACAG | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0038a0001c0001t0001g0134a0001c0001t0001g0146others(47): Show | 50 | 362 | 0.1381 | -4 | c.-42 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8709350 | TTTTA | T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(7): Show | a0001c0001t0001g0239a0001c0001t0001g0321a0001c0001t0001g0324others(9): Show | 12 | 362 | 0.0332 | -4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8710694 | CAGAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0285a0001c0001t0001g0318a0001c0001t0001g0323others(31): Show | 34 | 362 | 0.0939 | -4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8711326 | CAGGT | C | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG03098.hp1 others(2): Show |
a0002 | a0002c0002a0002c0006a0002c0007 | a0002c0002t0006a0002c0002t0007a0002c0006t0007others(2): Show | a0002c0002t0006g0351a0002c0002t0007g0275a0002c0006t0007g0228others(2): Show | 5 | 362 | 0.0138 | -4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8711786 | AGATG | A | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02055.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0007others(3): Show | a0001c0001t0011a0002c0002t0003a0002c0002t0005others(7): Show | a0001c0001t0011g0238a0002c0002t0003g0241a0002c0002t0003g0269others(9): Show | 12 | 362 | 0.0332 | -4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8715657 | CAATT | C | intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 HG03017.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0009others(1): Show | a0001c0003t0002a0002c0002t0019a0002c0009t0002others(1): Show | a0001c0003t0002g0179a0002c0002t0019g0002a0002c0009t0002g0320others(1): Show | 4 | 362 | 0.0111 | -4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8723827 | ATTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01123.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0021others(3): Show | a0001c0001t0005a0001c0003t0003a0001c0021t0001others(6): Show | a0001c0001t0005g0052a0001c0003t0003g0064a0001c0021t0001g0111others(8): Show | 11 | 362 | 0.0304 | -4 | c.-41 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8734400 | AAAAT | A | intron_variant | MODIFIER | HG02717.hp2 HG03130.hp2 NA19240.hp1 |
a0002 | a0002c0007 | a0002c0007t0003a0002c0007t0007a0002c0007t0011 | a0002c0007t0003g0005a0002c0007t0007g0247a0002c0007t0011g0004 | 3 | 362 | 0.0083 | -4 | c.-41 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743318 | CTGTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01167.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0003t0004a0002c0002t0001others(11): Show | a0001c0001t0001g0058a0001c0003t0004g0103a0002c0002t0001g0010others(19): Show | 22 | 362 | 0.0608 | -4 | c.71- others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8743580 | AATAT | A | intron_variant | MODIFIER | HG01516.hp1 HG02040.hp2 HG03704.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0003t0001others(2): Show | a0001c0001t0004g0096a0001c0001t0004g0109a0001c0001t0004g0273others(4): Show | 7 | 362 | 0.0193 | -4 | c.71- others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8747991 | ATATT | A | intron_variant | MODIFIER | HG03098.hp1 HG03540.hp1 NA18522.hp1 |
a0002 | a0002c0006 | a0002c0006t0002a0002c0006t0007a0002c0006t0030 | a0002c0006t0002g0348a0002c0006t0007g0228a0002c0006t0030g0008 | 3 | 362 | 0.0083 | -4 | c.169 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8749386 | CTTTT | C | intron_variant | MODIFIER | HG01169.hp1 HG01192.hp2 HG01891.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0009others(1): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0006others(4): Show | a0001c0001t0003g0029a0002c0002t0001g0010a0002c0002t0001g0297others(8): Show | 11 | 362 | 0.0304 | -4 | c.199 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8754661 | GATTT | G | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02723.hp2 others(1): Show |
a0002 | a0002c0002a0002c0007a0002c0009others(1): Show | a0002c0002t0003a0002c0007t0008a0002c0009t0002others(1): Show | a0002c0002t0003g0309a0002c0007t0008g0025a0002c0009t0002g0320others(1): Show | 4 | 362 | 0.0111 | -4 | c.317 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8772252 | CTGTG | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00621.hp1 others(39): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0108a0001c0001t0001g0134a0001c0001t0001g0146others(39): Show | 42 | 362 | 0.1160 | -4 | c.817 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8773105 | TACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(87): Show |
a0001a0002a0005 | a0001c0001a0001c0011a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0038a0001c0001t0001g0090a0001c0001t0001g0108others(87): Show | 90 | 362 | 0.2486 | -4 | c.954 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8781189 | TGATG | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(223): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(223): Show | 226 | 362 | 0.6243 | -4 | c.138 others(19): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8783191 | ATCAT | A | 3_prime_UTR_variant | MODIFIER | HG01192.hp2 HG02622.hp1 HG02895.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0006 | a0001c0001t0006g0303a0001c0001t0006g0312a0002c0002t0006g0043others(5): Show | 8 | 362 | 0.0221 | -4 | c.*17 others(15): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | 1773 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
ABAT_chr16_8669617_8789570 | 8784536 | TAGTC | T | 3_prime_UTR_variant | MODIFIER | HG01192.hp2 HG02622.hp1 HG02895.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0006a0002c0002t0006a0002c0005t0041 | a0001c0001t0006g0303a0001c0001t0006g0312a0002c0002t0006g0043others(6): Show | 9 | 362 | 0.0249 | -4 | c.*31 others(15): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | 3110 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
ABAT_chr16_8669617_8789570 | 8789444 | AAAAC | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(91): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0023others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(21): Show | a0001c0001t0001g0024a0001c0001t0001g0285a0001c0001t0003g0029others(91): Show | 94 | 362 | 0.2597 | -4 | c.*80 others(15): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4875 | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69143833 | GTAGA | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00733.hp2 others(45): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(12): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(15): Show | a0001c0001t0002g0067a0001c0001t0002g0068a0001c0001t0002g0153others(44): Show | 48 | 348 | 0.1379 | -4 | c.*49 others(15): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 4173 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146088 | GAATA | G | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02148.hp2 NA20752.hp1 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0207a0004c0004t0003g0255a0004c0004t0003g0256 | 3 | 348 | 0.0086 | -4 | c.*27 others(15): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1918 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69152802 | GTAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(203): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0002c0015others(17): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0005others(23): Show | a0001c0001t0002g0012a0001c0001t0002g0159a0001c0001t0002g0179others(199): Show | 206 | 348 | 0.5920 | -4 | c.413 others(21): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 34/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69156752 | CAAAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(154): Show |
a0002a0003a0004others(9): Show | a0002c0002a0002c0015a0003c0003others(12): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(15): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(151): Show | 157 | 348 | 0.4512 | -4 | c.345 others(19): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 28/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69184849 | ATGTG | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(127): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0015a0003c0003others(6): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(8): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(125): Show | 130 | 348 | 0.3736 | -4 | c.249 others(21): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69184916 | TACAC | T | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0002g0176a0002c0002t0001g0145a0003c0003t0001g0087others(17): Show | 21 | 348 | 0.0603 | -4 | c.249 others(21): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69194395 | AACAG | A | frameshift_variant | HIGH | HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show |
a0004 | a0004c0004a0004c0006 | a0004c0004t0003a0004c0004t0011a0004c0006t0003others(1): Show | a0004c0004t0003g0005a0004c0004t0003g0007a0004c0004t0003g0074others(38): Show | 42 | 348 | 0.1207 | -4 | c.133 others(13): Show |
p.Ser others(5): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 12/39 | 1890/6008 | 1331/4632 | 444/1543 | chr17 | TogoVar | ||
ABCA10_chr17_69143007_69233824 | 69208417 | CAAAA | C | intron_variant | MODIFIER | HG01361.hp2 HG02027.hp2 HG02074.hp1 others(5): Show |
a0002a0003a0006others(1): Show | a0002c0002a0003c0003a0006c0007others(1): Show | a0002c0002t0001a0002c0002t0005a0003c0003t0001others(2): Show | a0002c0002t0001g0036a0002c0002t0001g0063a0002c0002t0001g0116others(5): Show | 8 | 348 | 0.0230 | -4 | c.100 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69211314 | GATAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01123.hp2 others(23): Show |
a0001a0009a0017 | a0001c0001a0009c0018a0017c0033 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0026a0001c0001t0002g0030others(22): Show | 26 | 348 | 0.0747 | -4 | c.100 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69225116 | AAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(116): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0034a0002c0002others(10): Show | a0001c0001t0002a0001c0034t0002a0002c0002t0001others(10): Show | a0001c0001t0002g0001a0001c0001t0002g0026a0001c0001t0002g0035others(114): Show | 119 | 348 | 0.3420 | -4 | c.34+ others(17): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 3/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69231833 | CTGGA | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00639.hp1 others(67): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0003c0003others(15): Show | a0001c0001t0002a0001c0001t0006a0002c0002t0001others(17): Show | a0001c0001t0002g0203a0001c0001t0006g0224a0001c0001t0006g0225others(66): Show | 70 | 348 | 0.2012 | -4 | c.-35 others(15): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 3010 | chr17 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214926797 | TCCTA | T | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01517.hp1 HG02630.hp1 others(4): Show |
a0001a0002a0005 | a0001c0006a0001c0015a0001c0016others(3): Show | a0001c0006t0005a0001c0015t0009a0001c0016t0005others(3): Show | a0001c0006t0005g0152a0001c0015t0009g0006a0001c0016t0005g0063others(4): Show | 7 | 198 | 0.0354 | -4 | c.*58 others(15): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 4744 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214930993 | TTCTA | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(127): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(51): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(80): Show | a0001c0001t0002g0025a0001c0001t0002g0030a0001c0001t0002g0035others(127): Show | 130 | 198 | 0.6566 | -4 | c.*16 others(15): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 548 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214931084 | CATAT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0011others(22): Show | a0001c0001t0002g0025a0001c0001t0002g0030a0001c0001t0002g0035others(47): Show | 50 | 198 | 0.2525 | -4 | c.*15 others(15): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 457 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214932803 | AATTC | A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(22): Show | a0001c0001t0002g0025a0001c0001t0002g0030a0001c0001t0002g0035others(47): Show | 50 | 198 | 0.2525 | -4 | c.768 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 52/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214950384 | CTGTG | C | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG02647.hp2 others(5): Show |
a0001a0002a0003 | a0001c0044a0001c0051a0002c0008others(1): Show | a0001c0044t0004a0001c0051t0004a0002c0008t0004others(2): Show | a0001c0044t0004g0067a0001c0051t0004g0076a0002c0008t0004g0021others(5): Show | 8 | 198 | 0.0404 | -4 | c.685 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214950418 | GTGTA | G | intron_variant | MODIFIER | HG02559.hp2 HG02723.hp1 |
a0001 | a0001c0022 | a0001c0022t0006a0001c0022t0019 | a0001c0022t0006g0112a0001c0022t0019g0014 | 2 | 198 | 0.0101 | -4 | c.685 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214969555 | CAGTT | C | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp1 |
a0001a0002 | a0001c0032a0002c0057 | a0001c0032t0006a0002c0057t0006 | a0001c0032t0006g0041a0002c0057t0006g0177 | 2 | 198 | 0.0101 | -4 | c.569 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 37/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215006867 | CTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(102): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(47): Show | a0001c0001t0002g0025a0001c0001t0002g0030a0001c0001t0002g0035others(102): Show | 105 | 198 | 0.5303 | -4 | c.259 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 19/52 | chr2 | TogoVar |