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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AQP7B_chr2_94582311_94609628 | 94602018 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02723.hp2 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0137 a0001c0001t0001g0172 others(1): Show |
4 | 224 | 0.0179 | 8 | c.157 others(23): Show |
AQP7B | ENSG00000259916.2 | transcript | ENST00000561882.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AQP8_chr16_25211947_25233932 | 25214446 | T | TATCCATC others(1): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG01167.hp2 HG02559.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0181 a0001c0001t0003g0163 others(4): Show |
8 | 223 | 0.0359 | 8 | c.-26 others(19): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 2500 | chr16 | TogoVar | |||||||
AQP8_chr16_25211947_25233932 | 25216076 | T | TTTTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(40): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(22): Show |
43 | 156 | 0.2756 | 8 | c.-97 others(17): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 870 | chr16 | TogoVar | |||||||
AQP8_chr16_25211947_25233932 | 25216215 | T | TTTTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 HG04115.hp2 NA18998.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0060 others(1): Show |
4 | 253 | 0.0158 | 8 | c.-83 others(17): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 731 | chr16 | TogoVar | |||||||
AQP9_chr15_58133381_58190911 | 58179509 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02074.hp1 HG03139.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(1): Show | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0261 others(5): Show |
8 | 115 | 0.0696 | 8 | c.713 others(23): Show |
AQP9 | ENSG00000103569.11 | transcript | ENST00000219919.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AQR_chr15_34846782_34974742 | 34893607 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01975.hp1 HG01981.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0024a0001c0001t0025others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0195 a0001c0001t0002g0202 others(12): Show |
16 | 156 | 0.1026 | 8 | c.257 others(23): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 23/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34893607 | G | GCACGCAC others(1): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02135.hp1 NA18942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0014 | a0001c0001t0003g0145 a0001c0001t0004g0064 a0001c0001t0004g0106 others(1): Show |
4 | 144 | 0.0278 | 8 | c.257 others(23): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 23/34 | chr15 | TogoVar | |||||||
AQR_chr15_34846782_34974742 | 34911905 | G | GAGTTTCA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(181): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 others(180): Show |
184 | 306 | 0.6013 | 8 | c.148 others(27): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 16/34 | chr15 | TogoVar | |||||||
ARAP1_chr11_72680069_72757408 | 72703415 | G | GTGGGGGG others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02040.hp1 HG02080.hp2 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0006 | a0001c0004t0001g0001 a0001c0004t0001g0034 a0001c0004t0001g0045 others(4): Show |
9 | 203 | 0.0443 | 8 | c.199 others(25): Show |
ARAP1 | ENSG00000186635.16 | transcript | ENST00000393609.8 | protein_coding | 14/34 | chr11 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36062633 | A | AGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG02451.hp2 NA19030.hp1 |
a0001a0017 | a0001c0001a0017c0017 | a0001c0001t0002a0001c0001t0003a0017c0017t0002 | a0001c0001t0002g0151 a0001c0001t0003g0012 a0017c0017t0002g0061 |
3 | 164 | 0.0183 | 8 | c.*52 others(19): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 3370 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36128477 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG02145.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(4): Show | a0001c0001t0001g0149 a0001c0001t0002g0110 a0001c0001t0002g0208 others(5): Show |
8 | 37 | 0.2162 | 8 | c.364 others(23): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 21/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36136783 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG03139.hp2 others(6): Show |
a0001a0004a0006 | a0001c0001a0001c0005a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0006others(3): Show | a0001c0001t0001g0078 a0001c0001t0001g0194 a0001c0001t0001g0236 others(6): Show |
9 | 198 | 0.0455 | 8 | c.326 others(27): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 19/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36136816 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02165.hp1 HG02559.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0089 a0001c0001t0002g0110 a0001c0001t0003g0097 others(10): Show |
13 | 168 | 0.0774 | 8 | c.326 others(27): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 19/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36140139 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02074.hp1 HG03471.hp1 others(4): Show |
a0001a0016 | a0001c0001a0016c0025 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0199 a0001c0001t0002g0176 a0001c0001t0002g0218 others(4): Show |
7 | 61 | 0.1148 | 8 | c.326 others(27): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 19/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36156354 | A | AGAGGGAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(127): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0086 others(127): Show |
130 | 255 | 0.5098 | 8 | c.275 others(27): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 15/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36182495 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG01346.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0045 a0001c0001t0001g0082 a0001c0001t0001g0127 others(20): Show |
23 | 80 | 0.2875 | 8 | c.167 others(27): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 8/32 | chr4 | TogoVar | |||||||
ARAP2_chr4_36061004_36249514 | 36239380 | T | TATGAATG others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp2 others(20): Show |
a0001a0006a0018 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 others(20): Show |
23 | 276 | 0.0833 | 8 | c.-16 others(27): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 1/32 | chr4 | TogoVar | |||||||
ARAP3_chr5_141648402_141687230 | 141655182 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01884.hp2 others(11): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(5): Show | a0001c0002t0001g0094 a0001c0002t0001g0100 a0001c0003t0001g0065 others(10): Show |
14 | 77 | 0.1818 | 8 | c.414 others(25): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 32/32 | chr5 | TogoVar | |||||||
ARAP3_chr5_141648402_141687230 | 141655225 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01891.hp1 HG02074.hp2 others(9): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0006t0001others(3): Show | a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0258 others(7): Show |
12 | 194 | 0.0619 | 8 | c.414 others(25): Show |
ARAP3 | ENSG00000120318.16 | transcript | ENST00000239440.9 | protein_coding | 32/32 | chr5 | TogoVar | |||||||
ARCN1_chr11_118567409_118608033 | 118575411 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp2 others(85): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(5): Show | a0001c0001t0001g0096 a0001c0002t0002g0012 a0001c0002t0002g0013 others(76): Show |
88 | 311 | 0.2830 | 8 | c.3+2 others(21): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARCN1_chr11_118567409_118608033 | 118578164 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | NA19002.hp1 NA19056.hp1 NA19078.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0002t0002g0253 |
3 | 89 | 0.0337 | 8 | c.4-3 others(21): Show |
ARCN1 | ENSG00000095139.15 | transcript | ENST00000264028.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARC_chr8_142606049_142619479 | 142607234 | A | AGGGTGGC others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(101): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(7): Show | a0001c0001t0001g0001 a0001c0001t0006g0008 a0001c0001t0009g0011 others(7): Show |
104 | 407 | 0.2555 | 8 | c.*53 others(19): Show |
ARC | ENSG00000198576.4 | transcript | ENST00000356613.4 | protein_coding | 3814 | chr8 | TogoVar | |||||||
ARC_chr8_142606049_142619479 | 142607234 | A | AGGGTGGG others(1): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02615.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 3 | 306 | 0.0098 | 8 | c.*53 others(19): Show |
ARC | ENSG00000198576.4 | transcript | ENST00000356613.4 | protein_coding | 3814 | chr8 | TogoVar | |||||||
AREG_chr4_74440136_74460005 | 74441442 | T | TTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG01358.hp1 HG01891.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0004 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 others(2): Show |
5 | 66 | 0.0758 | 8 | c.-39 others(19): Show |
AREG | ENSG00000109321.11 | transcript | ENST00000395748.8 | protein_coding | 3693 | chr4 | TogoVar | |||||||
AREG_chr4_74440136_74460005 | 74455687 | T | TATGGGGA others(1): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG01496.hp2 HG02004.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0048 |
7 | 64 | 0.1094 | 8 | c.*94 others(17): Show |
AREG | ENSG00000109321.11 | transcript | ENST00000395748.8 | protein_coding | 683 | chr4 | TogoVar | |||||||
AREG_chr4_74440136_74460005 | 74455687 | T | TATGGGGG others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(359): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(66): Show |
362 | 419 | 0.8640 | 8 | c.*94 others(17): Show |
AREG | ENSG00000109321.11 | transcript | ENST00000395748.8 | protein_coding | 683 | chr4 | TogoVar | |||||||
AREL1_chr14_74656256_74718080 | 74699348 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0004a0001c0001t0007a0001c0009t0004 | a0001c0001t0004g0005 a0001c0001t0004g0012 a0001c0001t0004g0041 others(4): Show |
10 | 309 | 0.0324 | 8 | c.-33 others(27): Show |
AREL1 | ENSG00000119682.18 | transcript | ENST00000356357.9 | protein_coding | 1/19 | chr14 | TogoVar | |||||||
ARF3_chr12_48930723_48962487 | 48932227 | T | TTATATTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG01515.hp1 HG01515.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(5): Show |
11 | 289 | 0.0381 | 8 | c.*67 others(19): Show |
ARF3 | ENSG00000134287.10 | transcript | ENST00000256682.9 | protein_coding | 3495 | chr12 | TogoVar | |||||||
ARF4_chr3_57566363_57602344 | 57590089 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00738.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0031 others(25): Show |
34 | 157 | 0.2166 | 8 | c.68- others(23): Show |
ARF4 | ENSG00000168374.11 | transcript | ENST00000303436.11 | protein_coding | 1/5 | chr3 | TogoVar | |||||||
ARF5_chr7_127583411_127596700 | 127594160 | C | CTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG02074.hp1 HG02280.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(6): Show |
13 | 110 | 0.1182 | 8 | c.*28 others(19): Show |
ARF5 | ENSG00000004059.11 | transcript | ENST00000000233.10 | protein_coding | 2461 | chr7 | TogoVar | |||||||
ARFGAP1_chr20_63267813_63294790 | 63274311 | A | ACCCCCCC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(32): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(18): Show |
35 | 49 | 0.7143 | 8 | c.-4- others(23): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGAP3_chr22_42791502_42862273 | 42838275 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03710.hp2 HG04228.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0039 a0001c0003t0002g0053 a0001c0003t0002g0093 |
3 | 312 | 0.0096 | 8 | c.261 others(25): Show |
ARFGAP3 | ENSG00000242247.11 | transcript | ENST00000263245.10 | protein_coding | 3/15 | chr22 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67222227 | A | ATATGTAT others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02922.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0084 a0001c0001t0001g0162 others(1): Show |
4 | 60 | 0.0667 | 8 | c.420 others(27): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 29/38 | chr8 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67258818 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02738.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0006 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0127 others(3): Show |
6 | 106 | 0.0566 | 8 | c.223 others(25): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 15/38 | chr8 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67329529 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02615.hp2 HG02897.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0091 a0001c0001t0001g0156 a0001c0003t0004g0203 |
3 | 165 | 0.0182 | 8 | c.124 others(27): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 1/38 | chr8 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67339795 | C | CGGGGGGG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00642.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 others(47): Show |
50 | 71 | 0.7042 | 8 | c.124 others(25): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 1/38 | chr8 | TogoVar | |||||||
ARFGEF2_chr20_48916711_49041693 | 48935095 | C | CTCTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(265): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 others(264): Show |
268 | 350 | 0.7657 | 8 | c.122 others(25): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48997265 | T | TATTGATT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00673.hp2 others(61): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(8): Show | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0116 others(61): Show |
64 | 205 | 0.3122 | 8 | c.322 others(25): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 23/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138266848 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG02027.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(8): Show | a0001c0001t0010a0002c0002t0003a0002c0003t0009others(10): Show | a0001c0001t0010g0169 a0002c0002t0003g0113 a0002c0003t0009g0026 others(12): Show |
16 | 45 | 0.3556 | 8 | c.212 others(27): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 12/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138270427 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00597.hp1 others(24): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0034a0001c0001t0039others(8): Show | a0001c0001t0001g0107 a0001c0001t0001g0142 a0001c0001t0001g0143 others(24): Show |
27 | 59 | 0.4576 | 8 | c.212 others(27): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 12/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138272142 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG01099.hp2 others(13): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0014a0001c0015others(10): Show | a0001c0001t0001a0001c0014t0001a0001c0015t0022others(11): Show | a0001c0001t0001g0139 a0001c0014t0001g0124 a0001c0015t0022g0085 others(13): Show |
16 | 87 | 0.1839 | 8 | c.212 others(27): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 12/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152795820 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01070.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0013 others(11): Show |
14 | 28 | 0.5000 | 8 | c.-10 others(27): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152808283 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02572.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0147 a0001c0001t0002g0328 a0001c0001t0003g0245 others(4): Show |
7 | 11 | 0.6364 | 8 | c.-9- others(25): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152847124 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01167.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0323 a0001c0001t0002g0003 a0001c0001t0002g0011 others(16): Show |
19 | 105 | 0.1810 | 8 | c.94- others(25): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152889498 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01891.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0190 others(6): Show |
9 | 213 | 0.0423 | 8 | c.966 others(25): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152908891 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03688.hp2 HG04115.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0002 | a0001c0001t0001g0323 a0001c0001t0002g0020 a0001c0001t0002g0022 others(5): Show |
8 | 40 | 0.2000 | 8 | c.967 others(25): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARG1_chr6_131568226_131589329 | 131584363 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0038 |
4 | 290 | 0.0138 | 8 | c.*45 others(17): Show |
ARG1 | ENSG00000118520.16 | transcript | ENST00000368087.8 | protein_coding | 35 | chr6 | TogoVar | |||||||
ARG2_chr14_67614920_67656708 | 67627256 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 others(11): Show |
15 | 48 | 0.3125 | 8 | c.184 others(25): Show |
ARG2 | ENSG00000081181.8 | transcript | ENST00000261783.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ARG2_chr14_67614920_67656708 | 67642793 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01257.hp2 HG01515.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0211 a0001c0001t0001g0223 others(9): Show |
12 | 43 | 0.2791 | 8 | c.362 others(23): Show |
ARG2 | ENSG00000081181.8 | transcript | ENST00000261783.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ARGFX_chr3_121562949_121595622 | 121577226 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01496.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0227 a0001c0001t0001g0228 others(7): Show |
11 | 355 | 0.0310 | 8 | c.220 others(23): Show |
ARGFX | ENSG00000186103.5 | transcript | ENST00000334384.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |