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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTSL1_chr9_18469153_18915950 | 18503421 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03486.hp1 NA21309.hp2 |
a0001a0002 | a0001c0005a0001c0007a0002c0001 | a0001c0005t0014a0001c0007t0004a0002c0001t0023 | a0001c0005t0014g0018a0001c0007t0004g0017a0002c0001t0023g0016 | 3 | 218 | 0.0138 | 8 | c.64- others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18503980 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03195.hp1 HG03516.hp2 others(3): Show |
a0001a0002a0008others(1): Show | a0001c0003a0001c0005a0002c0001others(3): Show | a0001c0003t0003a0001c0005t0003a0002c0001t0023others(3): Show | a0001c0003t0003g0015a0001c0005t0003g0011a0002c0001t0023g0016others(3): Show | 6 | 218 | 0.0275 | 8 | c.64- others(21): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18574595 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(44): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0005others(25): Show | a0001c0002t0008a0001c0003t0001a0001c0003t0002others(35): Show | a0001c0002t0008g0089a0001c0003t0001g0146a0001c0003t0001g0173others(44): Show | 47 | 218 | 0.2156 | 8 | c.474 others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18621556 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02027.hp1 HG02129.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0007others(5): Show | a0001c0002t0004a0001c0003t0002a0001c0007t0001others(7): Show | a0001c0002t0004g0085a0001c0003t0002g0116a0001c0007t0001g0170others(8): Show | 11 | 218 | 0.0505 | 8 | c.475 others(23): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18656628 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00738.hp2 others(8): Show |
a0001a0002a0004others(3): Show | a0001c0003a0001c0006a0001c0007others(7): Show | a0001c0003t0029a0001c0006t0001a0001c0007t0031others(7): Show | a0001c0003t0029g0025a0001c0006t0001g0039a0001c0007t0031g0140others(8): Show | 11 | 218 | 0.0505 | 8 | c.835 others(24): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18674198 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG03704.hp2 |
a0001 | a0001c0003a0001c0049 | a0001c0003t0001a0001c0049t0001 | a0001c0003t0001g0196a0001c0049t0001g0148 | 2 | 218 | 0.0092 | 8 | c.108 others(27): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18681697 | T | TGTGTGGG others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01175.hp1 others(12): Show |
a0001a0002a0008others(1): Show | a0001c0002a0001c0006a0001c0021others(7): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(11): Show | a0001c0002t0001g0125a0001c0002t0003g0156a0001c0002t0004g0045others(12): Show | 15 | 218 | 0.0688 | 8 | c.134 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18681698 | G | GTGTTGGG others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01168.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0007a0001c0008a0001c0010others(10): Show | a0001c0007t0001a0001c0007t0004a0001c0007t0031others(14): Show | a0001c0007t0001g0176a0001c0007t0001g0188a0001c0007t0004g0017others(17): Show | 20 | 218 | 0.0917 | 8 | c.134 others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 11/28 | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18703701 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02451.hp1 HG02897.hp1 others(5): Show |
a0001a0002a0005others(2): Show | a0001c0005a0001c0007a0001c0055others(5): Show | a0001c0005t0002a0001c0007t0004a0001c0055t0002others(5): Show | a0001c0005t0002g0118a0001c0007t0004g0017a0001c0055t0002g0209others(5): Show | 8 | 218 | 0.0367 | 8 | c.157 others(27): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18756076 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02451.hp2 HG02622.hp1 others(1): Show |
a0002a0004a0027others(1): Show | a0002c0004a0004c0009a0027c0028others(1): Show | a0002c0004t0003a0004c0009t0002a0027c0028t0010others(1): Show | a0002c0004t0003g0110a0004c0009t0002g0218a0027c0028t0010g0007others(1): Show | 4 | 218 | 0.0184 | 8 | c.221 others(27): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18764969 | G | GTACAATT others(1): Show |
intron_variant | MODIFIER | NA18955.hp2 NA19085.hp1 |
a0002a0011 | a0002c0004a0011c0058 | a0002c0004t0012a0011c0058t0001 | a0002c0004t0012g0124a0011c0058t0001g0068 | 2 | 218 | 0.0092 | 8 | c.221 others(27): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18838360 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02698.hp2 |
a0001 | a0001c0003a0001c0039 | a0001c0003t0015a0001c0039t0001 | a0001c0003t0015g0191a0001c0039t0001g0206 | 2 | 218 | 0.0092 | 8 | c.424 others(27): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18838402 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01257.hp2 HG03486.hp1 HG03579.hp1 others(2): Show |
a0001 | a0001c0003a0001c0005a0001c0007others(1): Show | a0001c0003t0002a0001c0005t0002a0001c0005t0014others(2): Show | a0001c0003t0002g0116a0001c0005t0002g0216a0001c0005t0014g0018others(2): Show | 5 | 218 | 0.0229 | 8 | c.424 others(27): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18853887 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00621.hp2 others(17): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0005others(11): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0003others(14): Show | a0001c0002t0002g0061a0001c0002t0002g0108a0001c0002t0004g0080others(17): Show | 20 | 218 | 0.0917 | 8 | c.424 others(29): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18853918 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00733.hp1 others(44): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0003a0001c0005others(25): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(37): Show | a0001c0002t0002g0131a0001c0002t0003g0156a0001c0002t0004g0045others(44): Show | 47 | 218 | 0.2156 | 8 | c.424 others(29): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18853919 | G | GTGTGTGC others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01361.hp2 HG01516.hp2 others(2): Show |
a0004a0006a0013 | a0004c0009a0006c0061a0013c0072 | a0004c0009t0002a0006c0061t0004a0013c0072t0002 | a0004c0009t0002g0030a0004c0009t0002g0094a0004c0009t0002g0218others(2): Show | 5 | 218 | 0.0229 | 8 | c.424 others(29): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18876301 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00741.hp1 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0005others(14): Show | a0001c0002t0002a0001c0003t0005a0001c0005t0004others(15): Show | a0001c0002t0002g0128a0001c0003t0005g0211a0001c0005t0004g0020others(15): Show | 18 | 218 | 0.0826 | 8 | c.425 others(29): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18886166 | G | GTATGTAT others(1): Show |
intron_variant | MODIFIER | HG02027.hp1 NA19006.hp1 |
a0002a0003 | a0002c0001a0003c0011 | a0002c0001t0012a0003c0011t0021 | a0002c0001t0012g0145a0003c0011t0021g0204 | 2 | 218 | 0.0092 | 8 | c.425 others(27): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18886166 | G | GTATGTGT others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG02683.hp1 |
a0001a0008 | a0001c0027a0008c0017 | a0001c0027t0001a0008c0017t0020 | a0001c0027t0001g0033a0001c0027t0001g0111a0008c0017t0020g0073 | 3 | 218 | 0.0138 | 8 | c.425 others(27): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18894345 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01243.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0005others(9): Show | a0001c0002t0002a0001c0002t0008a0001c0003t0003others(13): Show | a0001c0002t0002g0128a0001c0002t0008g0089a0001c0003t0003g0164others(15): Show | 18 | 218 | 0.0826 | 8 | c.485 others(27): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18909661 | T | TCTGTCAG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(109): Show |
a0001a0002a0003others(17): Show | a0001c0002a0001c0003a0001c0005others(47): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(75): Show | a0001c0002t0002g0061a0001c0002t0002g0064a0001c0002t0002g0066others(109): Show | 112 | 218 | 0.5138 | 8 | c.*11 others(19): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 29/29 | 1130 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
ADAMTSL2_chr9_133529704_133580519 | 133533163 | C | CTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 HG02129.hp1 HG02273.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0008t0002others(1): Show | a0001c0001t0001g0056a0001c0003t0002g0057a0001c0008t0002g0045others(1): Show | 4 | 152 | 0.0263 | 8 | c.-19 others(19): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 1540 | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133563986 | A | AGAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00738.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0033a0002c0018 | a0001c0001t0001a0001c0033t0015a0002c0018t0003 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0013others(5): Show | 8 | 152 | 0.0526 | 8 | c.174 others(27): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133564494 | C | CAGAGAGG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01071.hp2 others(24): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0005t0003a0001c0006t0001others(14): Show | a0001c0001t0001g0012a0001c0001t0001g0041a0001c0005t0003g0014others(24): Show | 27 | 152 | 0.1776 | 8 | c.174 others(27): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133565839 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03492.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0006 | a0001c0001t0001g0025a0001c0006t0006g0109 | 2 | 152 | 0.0132 | 8 | c.174 others(27): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133565874 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03041.hp1 |
a0001 | a0001c0006 | a0001c0006t0005a0001c0006t0008 | a0001c0006t0005g0125a0001c0006t0008g0074 | 2 | 152 | 0.0132 | 8 | c.174 others(27): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133576789 | T | TTTTTTCC others(1): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG02080.hp1 NA20805.hp1 |
a0001 | a0001c0011a0001c0033 | a0001c0011t0001a0001c0033t0015 | a0001c0011t0001g0029a0001c0011t0001g0062a0001c0033t0015g0135 | 3 | 152 | 0.0197 | 8 | c.*19 others(19): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 1271 | chr9 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83687025 | T | TACAAACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01175.hp2 HG01243.hp2 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0008others(5): Show | a0001c0001t0006a0002c0002t0001a0002c0008t0001others(6): Show | a0001c0001t0006g0136a0002c0002t0001g0093a0002c0002t0001g0114others(12): Show | 15 | 274 | 0.0547 | 8 | c.70- others(25): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83688749 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02572.hp1 others(3): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0008t0001others(1): Show | a0001c0001t0001g0103a0002c0002t0001g0052a0002c0002t0001g0054others(3): Show | 6 | 274 | 0.0219 | 8 | c.70- others(25): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83688751 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(31): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(10): Show | a0001c0001t0001g0159a0001c0001t0001g0265a0002c0002t0001g0078others(31): Show | 34 | 274 | 0.1241 | 8 | c.70- others(25): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83757422 | A | AGCTGAGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(48): Show |
a0001a0002a0008others(5): Show | a0001c0001a0001c0057a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0057t0001others(8): Show | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0067others(48): Show | 51 | 274 | 0.1861 | 8 | c.190 others(27): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83783837 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00597.hp1 others(15): Show |
a0001a0002a0005others(5): Show | a0001c0001a0002c0002a0005c0005others(5): Show | a0001c0001t0001a0002c0002t0001a0005c0005t0002others(5): Show | a0001c0001t0001g0029a0001c0001t0001g0103a0001c0001t0001g0145others(15): Show | 18 | 274 | 0.0657 | 8 | c.317 others(27): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATAAA others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02015.hp2 HG02129.hp1 others(8): Show |
a0002a0003a0006others(5): Show | a0002c0002a0002c0008a0003c0003others(6): Show | a0002c0002t0001a0002c0008t0001a0003c0003t0001others(6): Show | a0002c0002t0001g0113a0002c0008t0001g0241a0003c0003t0001g0172others(8): Show | 11 | 274 | 0.0402 | 8 | c.318 others(25): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01167.hp1 others(4): Show |
a0002a0005a0040 | a0002c0054a0005c0005a0005c0046others(1): Show | a0002c0054t0001a0005c0005t0002a0005c0046t0005others(1): Show | a0002c0054t0001g0024a0005c0005t0002g0007a0005c0005t0002g0011others(4): Show | 7 | 274 | 0.0256 | 8 | c.318 others(25): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83872627 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 NA18951.hp2 others(2): Show |
a0002a0004a0013 | a0002c0002a0004c0004a0013c0014 | a0002c0002t0001a0004c0004t0001a0013c0014t0002 | a0002c0002t0001g0042a0002c0002t0001g0043a0004c0004t0001g0250others(2): Show | 5 | 274 | 0.0183 | 8 | c.960 others(25): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83872627 | C | CACACAGA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00597.hp2 others(15): Show |
a0001a0033 | a0001c0001a0001c0057a0033c0061 | a0001c0001t0001a0001c0057t0001a0033c0061t0001 | a0001c0001t0001g0029a0001c0001t0001g0076a0001c0001t0001g0103others(15): Show | 18 | 274 | 0.0657 | 8 | c.960 others(25): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83903242 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01175.hp2 HG01256.hp1 others(5): Show |
a0002a0004a0007others(1): Show | a0002c0002a0004c0004a0007c0007others(1): Show | a0002c0002t0001a0004c0004t0001a0007c0007t0001others(1): Show | a0002c0002t0001g0090a0002c0002t0001g0093a0002c0002t0001g0094others(5): Show | 8 | 274 | 0.0292 | 8 | c.170 others(27): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83917417 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp2 others(89): Show |
a0001a0002a0004others(13): Show | a0001c0001a0001c0015a0002c0002others(23): Show | a0001c0001t0001a0001c0015t0001a0002c0002t0001others(27): Show | a0001c0001t0001g0053a0001c0015t0001g0065a0001c0015t0001g0066others(89): Show | 92 | 274 | 0.3358 | 8 | c.198 others(27): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 83948411 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG00738.hp1 others(22): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0008a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0006a0002c0008t0001others(6): Show | a0001c0001t0001g0029a0001c0001t0001g0067a0001c0001t0001g0070others(22): Show | 25 | 274 | 0.0912 | 8 | c.249 others(27): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL3_chr15_83649123_84044842 | 84019076 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(62): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0015a0001c0058others(18): Show | a0001c0001t0001a0001c0015t0001a0001c0058t0001others(19): Show | a0001c0001t0001g0053a0001c0001t0001g0069a0001c0001t0001g0073others(62): Show | 65 | 274 | 0.2372 | 8 | c.427 others(27): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAMTSL5_chr19_1500022_1518019 | 1509622 | A | AAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(70): Show |
a0001a0006 | a0001c0001a0001c0011a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0203a0001c0001t0002g0090a0001c0001t0002g0157others(38): Show | 73 | 352 | 0.2074 | 8 | c.361 others(23): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 924322 | C | CTCCAGGT others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02280.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0003g0003 | 3 | 14 | 0.2143 | 8 | c.305 others(25): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 3/10 | chr7 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 936216 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02280.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0014 | 3 | 14 | 0.2143 | 8 | c.83- others(21): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
ADAP2_chr17_30916945_30964322 | 30930045 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00738.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0026others(12): Show | 19 | 282 | 0.0674 | 8 | c.318 others(25): Show |
ADAP2 | ENSG00000184060.11 | transcript | ENST00000330889.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45174682 | A | AATACATA others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 NA18968.hp1 NA18992.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0002a0001c0002t0004a0001c0012t0002 | a0001c0001t0002g0283a0001c0002t0004g0157a0001c0002t0004g0162others(1): Show | 4 | 350 | 0.0114 | 8 | c.29- others(23): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB2_chr10_1172313_1742525 | 1261615 | A | AGTTAGAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0019a0001c0001t0022others(6): Show | a0001c0001t0001g0045a0001c0001t0019g0038a0001c0001t0022g0015others(6): Show | 9 | 106 | 0.0849 | 8 | c.119 others(27): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 4/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1337062 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02630.hp2 NA20129.hp2 |
a0001a0002 | a0001c0003a0002c0002a0002c0014 | a0001c0003t0001a0002c0002t0064a0002c0014t0008 | a0001c0003t0001g0070a0002c0002t0064g0100a0002c0014t0008g0060 | 3 | 106 | 0.0283 | 8 | c.107 others(29): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1423465 | T | TGTTCATG others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 |
a0001 | a0001c0003 | a0001c0003t0032a0001c0003t0039 | a0001c0003t0032g0071a0001c0003t0039g0044 | 2 | 106 | 0.0189 | 8 | c.101 others(27): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1444281 | A | ACATCCAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01081.hp2 others(32): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(21): Show | a0001c0001t0003g0085a0001c0001t0003g0094a0001c0001t0003g0097others(32): Show | 35 | 106 | 0.3302 | 8 | c.101 others(27): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1486210 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02080.hp2 HG02257.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0005a0002c0002t0006others(2): Show | a0002c0002t0004g0095a0002c0002t0005g0033a0002c0002t0006g0011others(3): Show | 6 | 106 | 0.0566 | 8 | c.101 others(29): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar |