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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AASS_chr7_122068549_122149249 | 122099782 | AATAAAT | A | intron_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02148.hp1 others(19): Show |
a0001a0010a0011 | a0001c0001a0001c0003a0010c0011others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(4): Show | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0052others(19): Show | 22 | 384 | 0.0573 | -6 | c.140 others(23): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 13/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122141658 | CAAAAAA | C | intron_variant | MODIFIER | HG02165.hp2 NA18955.hp2 NA18986.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014a0001c0001t0004g0041a0001c0001t0004g0042others(2): Show | 6 | 384 | 0.0156 | -6 | c.-16 others(23): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36968266 | CTTTCTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02135.hp2 HG02293.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0004a0005c0008 | a0001c0001t0001a0002c0004t0001a0005c0008t0001 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(5): Show | 8 | 245 | 0.0327 | -6 | c.832 others(25): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37014267 | GTAATAA | G | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0016a0001c0001t0003g0075a0001c0001t0003g0076others(6): Show | 9 | 245 | 0.0367 | -6 | c.139 others(25): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATK_chr17_81112295_81171221 | 81114136 | ATTTTTT | A | downstream_gene_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 | -6 | c.*42 others(17): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 3158 | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8672553 | ACCACAC | A | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(1): Show | a0001c0001t0001g0011a0002c0002t0001g0010a0002c0002t0001g0345others(2): Show | 5 | 362 | 0.0138 | -6 | c.-21 others(17): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2063 | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8682222 | CACACAG | C | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp2 HG02165.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0022a0001c0003t0003others(3): Show | a0001c0001t0001g0156a0001c0001t0022g0037a0001c0003t0003g0155others(3): Show | 6 | 362 | 0.0166 | -6 | c.-42 others(23): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8719754 | AAGGAGG | A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02451.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(2): Show | a0001c0001t0001g0321a0001c0001t0001g0324a0001c0001t0002g0260others(6): Show | 9 | 362 | 0.0249 | -6 | c.-41 others(25): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8724740 | AAAAAAC | A | intron_variant | MODIFIER | HG01255.hp2 HG01433.hp2 HG01891.hp1 others(5): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004others(2): Show | a0001c0003t0001a0001c0003t0003a0002c0002t0003others(4): Show | a0001c0003t0001g0097a0001c0003t0003g0114a0002c0002t0003g0139others(5): Show | 8 | 362 | 0.0221 | -6 | c.-41 others(25): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8728068 | CAGAGAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(151): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0021others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0059others(151): Show | 154 | 362 | 0.4254 | -6 | 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 | 8733814 | AGAGAGG | A | intron_variant | MODIFIER | HG02965.hp2 HG03540.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0003a0002c0002t0026a0002c0006t0002 | a0001c0001t0003g0039a0002c0002t0026g0332a0002c0006t0002g0348 | 3 | 362 | 0.0083 | -6 | 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 | 8743318 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(220): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0059others(220): Show | 223 | 362 | 0.6160 | -6 | c.71- others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8772252 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01243.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0049a0001c0001t0002g0260a0001c0001t0002g0278others(15): Show | 18 | 362 | 0.0497 | -6 | c.817 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8773105 | TACACAC | T | intron_variant | MODIFIER | HG02572.hp2 NA18945.hp2 NA19030.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0022a0002c0002 | a0001c0001t0004a0001c0022t0002a0002c0002t0003others(1): Show | a0001c0001t0004g0330a0001c0022t0002g0262a0002c0002t0003g0269others(1): Show | 4 | 362 | 0.0111 | -6 | c.954 others(21): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCA10_chr17_69143007_69233824 | 69177955 | CAAAAAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp2 others(5): Show |
a0007 | a0007c0008 | a0007c0008t0004a0007c0008t0007 | a0007c0008t0004g0196a0007c0008t0007g0006a0007c0008t0007g0333others(4): Show | 8 | 348 | 0.0230 | -6 | c.277 others(25): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69184849 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(12): Show |
a0002a0003a0021others(1): Show | a0002c0002a0003c0003a0003c0025others(2): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0016others(3): Show | a0002c0002t0001g0183a0003c0003t0001g0056a0003c0003t0001g0071others(12): Show | 15 | 348 | 0.0431 | -6 | c.249 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69201779 | CATTTAT | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp2 others(6): Show |
a0007 | a0007c0008 | a0007c0008t0004a0007c0008t0007 | a0007c0008t0004g0196a0007c0008t0007g0006a0007c0008t0007g0333others(5): Show | 9 | 348 | 0.0259 | -6 | c.100 others(23): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69210170 | CTTTTTT | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp2 others(5): Show |
a0007 | a0007c0008 | a0007c0008t0004a0007c0008t0007 | a0007c0008t0004g0196a0007c0008t0007g0006a0007c0008t0007g0333others(4): Show | 8 | 348 | 0.0230 | -6 | c.100 others(25): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69211314 | GATATAT | G | intron_variant | MODIFIER | HG01346.hp2 HG02015.hp2 HG02055.hp2 others(17): Show |
a0001a0004a0008others(2): Show | a0001c0001a0004c0004a0004c0006others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0018others(5): Show | a0001c0001t0002g0012a0001c0001t0002g0164a0001c0001t0002g0165others(16): Show | 20 | 348 | 0.0575 | -6 | c.100 others(25): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214937189 | GTTTGTT | G | intron_variant | MODIFIER | HG02451.hp1 NA18906.hp2 |
a0003 | a0003c0020a0003c0065 | a0003c0020t0003a0003c0065t0001 | a0003c0020t0003g0108a0003c0065t0001g0103 | 2 | 198 | 0.0101 | -6 | c.754 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 51/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214950384 | CTGTGTG | C | intron_variant | MODIFIER | HG02572.hp2 NA18522.hp2 |
a0003a0005 | a0003c0020a0005c0063 | a0003c0020t0001a0005c0063t0003 | a0003c0020t0001g0106a0005c0063t0003g0079 | 2 | 198 | 0.0101 | -6 | c.685 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214981942 | TTTATTA | T | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG02886.hp2 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0006a0002c0008others(2): Show | a0001c0003t0006a0001c0006t0005a0002c0008t0004others(4): Show | a0001c0003t0006g0048a0001c0006t0005g0152a0002c0008t0004g0021others(8): Show | 11 | 198 | 0.0556 | -6 | c.457 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215006867 | CTTTTTT | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01106.hp2 others(50): Show |
a0001a0002a0004others(5): Show | a0001c0005a0001c0009a0001c0010others(17): Show | a0001c0005t0001a0001c0005t0003a0001c0005t0005others(34): Show | a0001c0005t0001g0125a0001c0005t0001g0145a0001c0005t0003g0077others(50): Show | 53 | 198 | 0.2677 | -6 | c.259 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 19/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215020695 | CTTATTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(194): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0003others(64): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(106): Show | a0001c0001t0002g0025a0001c0001t0002g0030a0001c0001t0002g0035others(194): Show | 197 | 198 | 0.9950 | -6 | c.128 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 11/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215050328 | ATCTAAG | A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02055.hp2 others(21): Show |
a0003a0004a0005others(2): Show | a0003c0014a0003c0020a0003c0065others(11): Show | a0003c0014t0002a0003c0014t0006a0003c0020t0001others(16): Show | a0003c0014t0002g0101a0003c0014t0006g0098a0003c0014t0006g0102others(21): Show | 24 | 198 | 0.1212 | -6 | c.508 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215051609 | AGTGTGT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(35): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0007a0002c0008others(17): Show | a0001c0001t0012a0002c0007t0002a0002c0007t0006others(25): Show | a0001c0001t0012g0192a0002c0007t0002g0105a0002c0007t0006g0175others(35): Show | 38 | 198 | 0.1919 | -6 | c.507 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215064688 | TACACGC | T | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02886.hp2 others(3): Show |
a0001a0004a0006others(1): Show | a0001c0042a0004c0018a0006c0019others(1): Show | a0001c0042t0013a0004c0018t0008a0004c0018t0021others(2): Show | a0001c0042t0013g0045a0004c0018t0008g0196a0004c0018t0021g0082others(3): Show | 6 | 198 | 0.0303 | -6 | c.164 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215113732 | CTTGTTA | C | intron_variant | MODIFIER | HG01243.hp2 HG03490.hp1 NA18962.hp2 others(6): Show |
a0001a0010a0014others(1): Show | a0001c0001a0001c0004a0001c0009others(4): Show | a0001c0001t0012a0001c0004t0010a0001c0009t0008others(5): Show | a0001c0001t0012g0191a0001c0004t0010g0198a0001c0009t0008g0188others(6): Show | 9 | 198 | 0.0455 | -6 | c.70- others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215134577 | ATCTCTC | A | intron_variant | MODIFIER | HG02257.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001a0003 | a0001c0005a0003c0014 | a0001c0005t0005a0003c0014t0006 | a0001c0005t0005g0109a0001c0005t0005g0110a0001c0005t0005g0111others(1): Show | 4 | 198 | 0.0202 | -6 | c.69+ others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215134614 | TATAGAG | T | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02896.hp1 others(3): Show |
a0001a0002 | a0001c0005a0001c0051a0002c0007others(1): Show | a0001c0005t0003a0001c0005t0005a0001c0051t0004others(2): Show | a0001c0005t0003g0077a0001c0005t0005g0075a0001c0051t0004g0076others(3): Show | 6 | 198 | 0.0303 | -6 | c.69+ others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215134616 | TAGAGAG | T | intron_variant | MODIFIER | HG01975.hp2 HG02486.hp2 HG03195.hp2 others(1): Show |
a0002a0018 | a0002c0027a0002c0058a0018c0048 | a0002c0027t0003a0002c0058t0002a0018c0048t0001 | a0002c0027t0003g0073a0002c0027t0003g0074a0002c0058t0002g0072others(1): Show | 4 | 198 | 0.0202 | -6 | c.69+ others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215134646 | CAGAGAG | C | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01123.hp2 others(25): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0011a0001c0012others(14): Show | a0001c0004t0001a0001c0011t0001a0001c0011t0005others(17): Show | a0001c0004t0001g0091a0001c0004t0001g0092a0001c0011t0001g0085others(25): Show | 28 | 198 | 0.1414 | -6 | c.69+ others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48175882 | TAACAAC | T | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(22): Show |
a0001a0002a0004others(14): Show | a0001c0001a0002c0002a0002c0022others(17): Show | a0001c0001t0004a0002c0002t0002a0002c0022t0004others(20): Show | a0001c0001t0004g0164a0002c0002t0002g0156a0002c0002t0002g0168others(22): Show | 25 | 178 | 0.1405 | -6 | c.69+ others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48178975 | CTAATAA | C | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp1 HG01952.hp2 others(31): Show |
a0001a0003a0004others(22): Show | a0001c0001a0003c0003a0003c0004others(24): Show | a0001c0001t0001a0001c0001t0006a0003c0003t0004others(27): Show | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0006g0178others(31): Show | 34 | 178 | 0.1910 | -6 | c.69+ others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48219883 | AACACAC | A | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01243.hp1 others(26): Show |
a0001a0005a0007others(13): Show | a0001c0001a0001c0010a0001c0103others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0058others(26): Show | 29 | 178 | 0.1629 | -6 | c.439 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48232139 | ATTTTTT | A | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp2 others(15): Show |
a0009a0011a0012others(9): Show | a0009c0012a0011c0017a0011c0044others(13): Show | a0009c0012t0002a0011c0017t0002a0011c0017t0003others(14): Show | a0009c0012t0002g0094a0011c0017t0002g0048a0011c0017t0003g0067others(15): Show | 18 | 178 | 0.1011 | -6 | c.764 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48313977 | GTGTGTA | G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(103): Show |
a0001a0002a0005others(45): Show | a0001c0001a0001c0010a0001c0103others(61): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(75): Show | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0001g0040others(103): Show | 106 | 178 | 0.5955 | -6 | c.968 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 25/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48326683 | TTAACTC | T | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02895.hp1 others(3): Show |
a0024a0063a0069others(2): Show | a0024c0027a0063c0071a0069c0066others(2): Show | a0024c0027t0001a0024c0027t0006a0063c0071t0005others(3): Show | a0024c0027t0001g0161a0024c0027t0006g0162a0063c0071t0005g0105others(3): Show | 6 | 178 | 0.0337 | -6 | c.100 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48368687 | GTATATA | G | intron_variant | MODIFIER | HG02897.hp2 NA18977.hp2 |
a0005a0040 | a0005c0005a0040c0111 | a0005c0005t0003a0040c0111t0006 | a0005c0005t0003g0132a0040c0111t0006g0031 | 2 | 178 | 0.0112 | -6 | c.108 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48411043 | CTTTCTT | C | intron_variant | MODIFIER | HG01993.hp1 HG02109.hp1 HG02809.hp2 others(7): Show |
a0001a0005a0014others(4): Show | a0001c0010a0005c0005a0005c0024others(5): Show | a0001c0010t0001a0005c0005t0003a0005c0024t0001others(5): Show | a0001c0010t0001g0066a0005c0005t0003g0090a0005c0005t0003g0103others(7): Show | 10 | 178 | 0.0562 | -6 | c.122 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48411143 | CTTTTCT | C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(37): Show |
a0001a0002a0003others(25): Show | a0001c0010a0002c0022a0003c0003others(26): Show | a0001c0010t0002a0002c0022t0002a0003c0003t0004others(29): Show | a0001c0010t0002g0074a0002c0022t0002g0124a0003c0003t0004g0028others(37): Show | 40 | 178 | 0.2247 | -6 | c.122 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48431342 | AAACAAC | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(57): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0010a0001c0104others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(46): Show | a0001c0001t0001g0004a0001c0001t0001g0133a0001c0001t0002g0054others(57): Show | 60 | 178 | 0.3371 | -6 | c.125 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48563794 | TTGTGTG | T | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG00738.hp1 others(44): Show |
a0001a0002a0004others(26): Show | a0001c0001a0001c0103a0002c0065others(33): Show | a0001c0001t0002a0001c0103t0006a0002c0065t0006others(35): Show | a0001c0001t0002g0065a0001c0103t0006g0059a0002c0065t0006g0128others(44): Show | 47 | 178 | 0.2640 | -6 | c.143 others(29): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48624059 | AGTGTGT | A | intron_variant | MODIFIER | HG02280.hp2 NA19030.hp2 |
a0002a0025 | a0002c0002a0025c0089 | a0002c0002t0004a0025c0089t0012 | a0002c0002t0004g0106a0025c0089t0012g0154 | 2 | 178 | 0.0112 | -6 | c.148 others(27): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104807845 | TACACAC | T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02258.hp1 others(23): Show |
a0002a0004a0005others(5): Show | a0002c0015a0002c0017a0002c0058others(15): Show | a0002c0015t0002a0002c0015t0004a0002c0015t0013others(21): Show | a0002c0015t0002g0315a0002c0015t0004g0004a0002c0015t0013g0305others(23): Show | 26 | 318 | 0.0818 | -6 | c.427 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104807871 | CACACAT | C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02559.hp2 others(1): Show |
a0002a0004 | a0002c0017a0004c0107 | a0002c0017t0002a0002c0017t0026a0004c0107t0002 | a0002c0017t0002g0271a0002c0017t0026g0163a0002c0017t0026g0276others(1): Show | 4 | 318 | 0.0126 | -6 | c.427 others(25): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 30/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104810141 | CATATAT | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02280.hp2 others(13): Show |
a0002a0004a0005others(5): Show | a0002c0033a0002c0058a0002c0078others(9): Show | a0002c0033t0002a0002c0033t0032a0002c0058t0007others(12): Show | a0002c0033t0002g0301a0002c0033t0032g0024a0002c0058t0007g0143others(13): Show | 16 | 318 | 0.0503 | -6 | c.417 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 29/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104829943 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp1 others(58): Show |
a0002a0003a0012others(5): Show | a0002c0011a0002c0015a0002c0032others(22): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012others(40): Show | a0002c0011t0004g0112a0002c0011t0004g0213a0002c0011t0004g0263others(58): Show | 61 | 318 | 0.1918 | -6 | c.189 others(23): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 14/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104841441 | AAAAAAG | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp2 others(122): Show |
a0001a0002a0003others(19): Show | a0001c0092a0002c0017a0002c0025others(47): Show | a0001c0092t0012a0002c0017t0015a0002c0017t0026others(89): Show | a0001c0092t0012g0220a0002c0017t0015g0101a0002c0017t0026g0163others(122): Show | 125 | 318 | 0.3931 | -6 | c.814 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862071 | CACACAT | C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00673.hp1 others(39): Show |
a0002a0003a0006others(8): Show | a0002c0011a0003c0002a0003c0009others(12): Show | a0002c0011t0004a0002c0011t0007a0002c0011t0012others(25): Show | a0002c0011t0004g0263a0002c0011t0007g0119a0002c0011t0007g0247others(39): Show | 42 | 318 | 0.1321 | -6 | c.422 others(21): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar |