view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | 18853918 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0176 | 1 | 103 | 0.0097 | 16 | c.424 others(37): 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(9): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01433.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0007a0002c0001a0002c0053others(2): Show | a0001c0007t0001a0001c0007t0004a0002c0001t0001others(3): Show | a0001c0007t0001g0191 a0001c0007t0004g0017 a0002c0001t0001g0177 others(4): Show |
7 | 109 | 0.0642 | 16 | c.424 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18866116 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01517.hp1 HG03704.hp1 HG03831.hp1 others(1): Show |
a0001a0002a0006 | a0001c0002a0001c0006a0002c0004others(1): Show | a0001c0002t0008a0001c0006t0002a0002c0004t0008others(1): Show | a0001c0002t0008g0086 a0001c0006t0002g0061 a0002c0004t0008g0089 others(1): Show |
4 | 55 | 0.0727 | 16 | c.425 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18876301 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01167.hp2 HG02109.hp2 others(8): Show |
a0001a0002a0008others(1): Show | a0001c0003a0001c0023a0001c0057others(5): Show | a0001c0003t0013a0001c0023t0001a0001c0057t0002others(7): Show | a0001c0003t0013g0212 a0001c0023t0001g0175 a0001c0057t0002g0001 others(8): Show |
11 | 63 | 0.1746 | 16 | c.425 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18876329 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0156 | 1 | 215 | 0.0047 | 16 | c.425 others(37): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83674770 | T | TATACACA others(9): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01884.hp1 HG02109.hp2 others(14): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0008others(11): Show | a0001c0001t0001a0001c0015t0001a0002c0008t0001others(11): Show | a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0015t0001g0122 others(14): Show |
17 | 272 | 0.0625 | 16 | c.69+ others(33): 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(9): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp2 others(35): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0015a0002c0008others(11): Show | a0001c0001t0001a0001c0015t0001a0002c0008t0001others(11): Show | a0001c0001t0001g0264 a0001c0015t0001g0122 a0002c0008t0001g0176 others(35): Show |
38 | 220 | 0.1727 | 16 | c.190 others(35): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATAAA others(9): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02965.hp2 HG03710.hp1 others(2): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0006 | a0003c0003t0001a0004c0004t0001a0005c0006t0001 | a0003c0003t0001g0192 a0003c0003t0001g0193 a0004c0004t0001g0238 others(2): Show |
5 | 137 | 0.0365 | 16 | c.318 others(33): 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(9): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01175.hp2 HG02027.hp2 others(6): Show |
a0002a0003a0005others(3): Show | a0002c0002a0002c0048a0003c0003others(4): Show | a0002c0002t0001a0002c0048t0001a0003c0003t0001others(4): Show | a0002c0002t0001g0138 a0002c0002t0001g0190 a0002c0002t0001g0201 others(6): Show |
9 | 141 | 0.0638 | 16 | c.318 others(33): 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(9): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0013 | a0013c0031 | a0013c0031t0001 | a0013c0031t0001g0206 | 1 | 57 | 0.0175 | 16 | c.960 others(33): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83872627 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01123.hp2 others(6): Show |
a0008a0009a0024others(2): Show | a0008c0010a0008c0011a0009c0009others(3): Show | a0008c0010t0001a0008c0011t0001a0009c0009t0001others(5): Show | a0008c0010t0001g0243 a0008c0011t0001g0009 a0009c0009t0001g0047 others(6): Show |
9 | 65 | 0.1385 | 16 | c.960 others(33): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83917417 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02135.hp2 HG03654.hp1 others(3): Show |
a0004a0006 | a0004c0004a0006c0005 | a0004c0004t0001a0006c0005t0002 | a0004c0004t0001g0085 a0004c0004t0001g0248 a0004c0004t0001g0250 others(3): Show |
6 | 112 | 0.0536 | 16 | c.198 others(35): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 84019076 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0033 | a0033c0032 | a0033c0032t0001 | a0033c0032t0001g0136 | 1 | 17 | 0.0588 | 16 | c.427 others(35): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 906762 | G | GGGGACAC others(9): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 12 | 0.0833 | 16 | c.389 others(33): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1510110 | C | CTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18983.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0055a0003c0006t0003 | a0001c0001t0055g0089 a0003c0006t0003g0090 |
2 | 27 | 0.0741 | 16 | c.101 others(37): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1514178 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03041.hp1 NA18983.hp2 others(3): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0025a0001c0001t0050a0001c0003t0032others(3): Show | a0001c0001t0025g0036 a0001c0001t0050g0077 a0001c0003t0032g0071 others(3): Show |
6 | 15 | 0.4000 | 16 | c.101 others(37): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1544956 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01433.hp1 HG01934.hp1 others(8): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0010a0001c0001t0057a0001c0001t0061others(7): Show | a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0057g0103 others(8): Show |
11 | 20 | 0.5500 | 16 | c.101 others(37): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1544956 | T | TATACACA others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02040.hp1 HG02615.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0016 | a0001c0001t0001a0001c0001t0030a0002c0002t0007others(1): Show | a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0030g0034 others(2): Show |
5 | 14 | 0.3571 | 16 | c.101 others(37): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1557880 | G | GTTGCGGT others(9): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01243.hp1 others(19): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(18): Show | a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0003g0097 others(19): Show |
22 | 106 | 0.2075 | 16 | c.101 others(37): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1608774 | G | GAGAAAGA others(9): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02040.hp2 HG02080.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0011a0002c0002t0004a0002c0002t0007others(4): Show | a0001c0001t0011g0017 a0002c0002t0004g0082 a0002c0002t0004g0101 others(6): Show |
9 | 64 | 0.1406 | 16 | c.100 others(37): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1629908 | A | AGGGAGCG others(9): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0006 | a0006c0009 | a0006c0009t0024 | a0006c0009t0024g0016 | 1 | 106 | 0.0094 | 16 | c.100 others(37): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADAR_chr1_154577057_154613186 | 154582475 | A | AGGGGCAT others(9): Show |
3_prime_UTR_variant | MODIFIER | HG02040.hp1 HG02040.hp2 HG02523.hp2 |
a0001a0007 | a0001c0001a0007c0020 | a0001c0001t0010a0007c0020t0010 | a0001c0001t0010g0080 a0001c0001t0010g0088 a0007c0020t0010g0083 |
3 | 31 | 0.0968 | 16 | c.*23 others(27): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 15/15 | 2330 | chr1 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75604474 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 231 | 0.0043 | 16 | c.129 others(35): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 8/9 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75604474 | T | TATACACA others(9): Show |
intron_variant | MODIFIER | NA18965.hp1 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0066 | a0001c0001t0002g0279 a0001c0001t0066g0261 |
2 | 232 | 0.0086 | 16 | c.129 others(35): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 8/9 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75622600 | G | GAGCATGC others(9): Show |
5_prime_UTR_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0052 | a0002c0002t0052g0130 | 1 | 346 | 0.0029 | 16 | c.-23 others(25): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 1/10 | 1802 | chr16 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75624114 | C | CATATATA others(9): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 NA20805.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0011 |
2 | 334 | 0.0060 | 16 | c.-17 others(27): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 834 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0016 | 1 | 68 | 0.0147 | 16 | c.-17 others(27): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG03669.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0052a0002c0002t0060 | a0002c0002t0001g0001 a0002c0002t0001g0014 a0002c0002t0001g0138 others(3): Show |
6 | 73 | 0.0822 | 16 | c.-17 others(27): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01952.hp2 HG01975.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001a0002c0002t0013others(1): Show | a0001c0001t0005g0019 a0002c0002t0001g0001 a0002c0002t0001g0012 others(9): Show |
14 | 81 | 0.1728 | 16 | c.-17 others(27): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG02293.hp1 NA18957.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001 | a0001c0001t0005g0019 a0002c0002t0001g0143 a0002c0002t0001g0198 |
3 | 70 | 0.0429 | 16 | c.-17 others(27): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT2_chr6_143417832_143455695 | 143425733 | T | TTGTGTGT others(9): Show |
3_prime_UTR_variant | MODIFIER | HG01071.hp2 HG01168.hp2 HG01361.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0017a0001c0001t0044a0001c0001t0061others(8): Show | a0001c0001t0017g0261 a0001c0001t0017g0262 a0001c0001t0017g0265 others(12): Show |
16 | 36 | 0.4444 | 16 | c.*27 others(27): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 2729 | chr6 | TogoVar | ||||||
ADAT2_chr6_143417832_143455695 | 143427096 | A | AACACACA others(9): Show |
3_prime_UTR_variant | MODIFIER | HG02818.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0095a0001c0001t0170 | a0001c0001t0095g0101 a0001c0001t0170g0253 |
2 | 23 | 0.0870 | 16 | c.*13 others(27): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 1366 | chr6 | TogoVar | ||||||
ADAT2_chr6_143417832_143455695 | 143442476 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01952.hp2 HG01978.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0115a0001c0001t0117others(1): Show | a0001c0001t0011g0006 a0001c0001t0011g0056 a0001c0001t0115g0054 others(2): Show |
7 | 127 | 0.0551 | 16 | c.97- others(31): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
ADAT3_chr19_1900399_1918447 | 1906866 | T | TGGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01167.hp1 HG01167.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003a0001c0010 | a0001c0002t0002a0001c0003t0002a0001c0010t0002 | a0001c0002t0002g0090 a0001c0003t0002g0015 a0001c0003t0002g0038 others(1): Show |
9 | 142 | 0.0634 | 16 | c.-15 others(35): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
ADAT3_chr19_1900399_1918447 | 1906866 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG03139.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0002t0001a0001c0004t0001 | a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0002t0001g0011 others(4): Show |
12 | 145 | 0.0828 | 16 | c.-15 others(35): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77816881 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01099.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0103 a0001c0001t0001g0231 a0001c0001t0001g0254 others(18): Show |
21 | 142 | 0.1479 | 16 | c.-11 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852652 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0001 | 1 | 262 | 0.0038 | 16 | c.220 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852656 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0168 | 1 | 250 | 0.0040 | 16 | c.220 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852660 | A | AATAAATA others(9): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 67 | 0.0149 | 16 | c.220 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852660 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 67 | 0.0149 | 16 | c.220 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852883 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02040.hp1 HG02040.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0211 a0001c0001t0001g0267 a0001c0001t0001g0272 others(4): Show |
7 | 122 | 0.0574 | 16 | c.220 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852907 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 163 | 0.0061 | 16 | c.220 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77893736 | C | CCTTCCTT others(9): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01346.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0162 others(5): Show |
8 | 168 | 0.0476 | 16 | c.583 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77894736 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02040.hp1 HG02135.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0002a0006c0010t0001 | a0001c0001t0001g0098 a0001c0001t0001g0211 a0001c0001t0001g0249 others(5): Show |
8 | 71 | 0.1127 | 16 | c.583 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77921326 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0002g0039 others(16): Show |
19 | 81 | 0.2346 | 16 | c.859 others(33): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77938169 | C | CAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01168.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0004t0002 | a0001c0001t0002g0009 a0001c0001t0002g0022 a0001c0001t0002g0031 others(10): Show |
13 | 77 | 0.1688 | 16 | c.*47 others(27): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3156 | chr14 | TogoVar | |||||||
ADCK5_chr8_144369047_144398242 | 144392334 | T | TGGGGGTG others(9): Show |
splice_region_variant others(1): Show |
LOW | HG01255.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0055 | 1 | 219 | 0.0046 | 16 | c.125 others(27): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCY10_chr1_167804386_167919134 | 167850697 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0004a0002c0001a0002c0047 | a0001c0004t0002a0002c0001t0002a0002c0047t0002 | a0001c0004t0002g0199 a0001c0004t0002g0278 a0002c0001t0002g0018 others(2): Show |
5 | 88 | 0.0568 | 16 | c.230 others(35): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 18/32 | chr1 | TogoVar | |||||||
ADCY10_chr1_167804386_167919134 | 167853830 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0047 | a0002c0047t0002 | a0002c0047t0002g0259 | 1 | 100 | 0.0100 | 16 | c.230 others(33): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 18/32 | chr1 | TogoVar | |||||||
ADCY10_chr1_167804386_167919134 | 167897997 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01361.hp2 NA18966.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0016 a0001c0004t0002g0004 |
2 | 80 | 0.0250 | 16 | c.643 others(33): Show |
ADCY10 | ENSG00000143199.18 | transcript | ENST00000367851.9 | protein_coding | 6/32 | chr1 | TogoVar |