| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADCY5_chr3_123277296_123454090 | 123383925 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(168): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0001g0099others(168): Show | 171 | 260 | 0.6577 | -6 | c.113 others(27): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
| ADCY5_chr3_123277296_123454090 | 123396807 | CAGGCAG | C | intron_variant | MODIFIER | HG00609.hp1 HG01074.hp1 HG01978.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0111a0001c0001t0001g0130a0001c0001t0001g0134others(7): Show | 10 | 260 | 0.0385 | -6 | c.113 others(27): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
| ADCY5_chr3_123277296_123454090 | 123396811 | CAGGCAG | C | intron_variant | MODIFIER | HG02083.hp2 HG03098.hp2 NA18954.hp1 |
a0001 | a0001c0001a0001c0024 | a0001c0001t0002a0001c0001t0008a0001c0024t0002 | a0001c0001t0002g0062a0001c0001t0008g0093a0001c0024t0002g0035 | 3 | 260 | 0.0115 | -6 | c.113 others(27): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
| ADCY5_chr3_123277296_123454090 | 123435851 | TTTATTA | T | intron_variant | MODIFIER | HG00558.hp1 HG01109.hp2 HG01167.hp2 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(4): Show | a0001c0001t0001g0101a0001c0001t0001g0104a0001c0001t0001g0112others(16): Show | 19 | 260 | 0.0731 | -6 | c.113 others(27): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
| ADCY7_chr16_50261551_50323135 | 50312203 | AGGGGCT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp1 others(118): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0005a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0008a0001c0001t0001g0026a0001c0001t0001g0032others(117): Show | 121 | 338 | 0.3580 | -6 | c.260 others(21): Show |
ADCY7 | ENSG00000121281.13 | transcript | ENST00000673801.1 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ADCY7_chr16_50261551_50323135 | 50313417 | AAACAAC | A | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0012a0001c0008t0009 | a0001c0001t0001g0048a0001c0001t0012g0009a0001c0001t0012g0086others(5): Show | 8 | 338 | 0.0237 | -6 | c.275 others(23): Show |
ADCY7 | ENSG00000121281.13 | transcript | ENST00000673801.1 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ADCY8_chr8_130775301_131045909 | 130807983 | CAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01074.hp2 others(5): Show |
a0001 | a0001c0003a0001c0006a0001c0008others(1): Show | a0001c0003t0001a0001c0006t0004a0001c0008t0002others(3): Show | a0001c0003t0001g0069a0001c0003t0001g0070a0001c0006t0004g0018others(5): Show | 8 | 246 | 0.0325 | -6 | c.291 others(25): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 14/17 | chr8 | TogoVar | ||||||
| ADCY8_chr8_130775301_131045909 | 130810347 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0040a0001c0001t0001g0064a0001c0001t0001g0086others(42): Show | 45 | 246 | 0.1829 | -6 | c.291 others(25): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 14/17 | chr8 | TogoVar | ||||||
| ADCY8_chr8_130775301_131045909 | 130889416 | ATAAGAC | A | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0008a0001c0014 | a0001c0008t0002a0001c0014t0002 | a0001c0008t0002g0174a0001c0008t0002g0214a0001c0008t0002g0215others(1): Show | 4 | 246 | 0.0163 | -6 | c.191 others(25): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
| ADCY8_chr8_130775301_131045909 | 130893657 | GGTGTGT | G | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00733.hp1 others(47): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0027a0001c0001t0001g0040a0001c0001t0001g0126others(47): Show | 50 | 246 | 0.2033 | -6 | c.191 others(25): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
| ADCY8_chr8_130775301_131045909 | 130908984 | GCTCTCT | G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01243.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0003a0001c0004t0005others(1): Show | a0001c0002t0003g0019a0001c0004t0003g0213a0001c0004t0005g0002others(1): Show | 5 | 246 | 0.0203 | -6 | c.164 others(23): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 6/17 | chr8 | TogoVar | ||||||
| ADCY8_chr8_130775301_131045909 | 130952540 | ATGAGGT | A | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01106.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(4): Show | a0001c0001t0001g0027a0001c0001t0002g0026a0001c0001t0002g0169others(6): Show | 9 | 246 | 0.0366 | -6 | c.111 others(23): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
| ADCY8_chr8_130775301_131045909 | 130992382 | CATATAT | C | intron_variant | MODIFIER | HG01074.hp1 HG01346.hp1 HG01981.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0002a0001c0003t0002others(2): Show | a0001c0001t0003g0216a0001c0002t0002g0052a0001c0002t0002g0081others(4): Show | 7 | 246 | 0.0285 | -6 | c.961 others(23): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | ||||||
| ADCY8_chr8_130775301_131045909 | 131019797 | TTCTCTC | T | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0014others(5): Show | a0001c0002t0001g0091a0001c0002t0002g0022a0001c0003t0014g0241others(6): Show | 10 | 246 | 0.0407 | -6 | c.960 others(25): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | ||||||
| ADCY8_chr8_130775301_131045909 | 131019837 | CTGTCTG | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00741.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0131a0001c0001t0001g0136a0001c0001t0001g0178others(14): Show | 17 | 246 | 0.0691 | -6 | c.960 others(25): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | ||||||
| ADCY9_chr16_3957653_4121442 | 3959362 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00642.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0006a0001c0007others(13): Show | a0001c0003t0001a0001c0003t0057a0001c0006t0002others(19): Show | a0001c0003t0001g0177a0001c0003t0001g0273a0001c0003t0001g0293others(30): Show | 33 | 320 | 0.1031 | -6 | c.*64 others(17): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 3290 | chr16 | TogoVar | ||||||
| ADCY9_chr16_3957653_4121442 | 3963097 | CATATAT | C | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG01243.hp2 HG06807.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0009a0002c0005others(1): Show | a0001c0002t0037a0001c0002t0065a0001c0009t0035others(2): Show | a0001c0002t0037g0210a0001c0002t0065g0045a0001c0009t0035g0186others(2): Show | 5 | 320 | 0.0156 | -6 | c.*26 others(17): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 11/11 | 2672 | chr16 | TogoVar | |||||
| ADCY9_chr16_3957653_4121442 | 4120611 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01069.hp2 HG01074.hp1 others(47): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0010others(41): Show | a0001c0001t0006g0284a0001c0001t0008g0238a0001c0001t0010g0292others(47): Show | 50 | 320 | 0.1563 | -6 | c.-49 others(17): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 4170 | chr16 | TogoVar | ||||||
| ADCYAP1R1_chr7_31047308_31116474 | 31055328 | AGTGTGT | A | intron_variant | MODIFIER | HG01109.hp2 HG03195.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0041 | a0001c0001t0001g0299a0001c0001t0008g0270a0001c0001t0041g0271 | 3 | 322 | 0.0093 | -6 | c.-72 others(23): Show |
ADCYAP1R1 | ENSG00000078549.16 | transcript | ENST00000304166.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ADCYAP1R1_chr7_31047308_31116474 | 31108746 | ATGTGTG | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(139): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(134): Show | 142 | 322 | 0.4410 | -6 | c.*20 others(17): Show |
ADCYAP1R1 | ENSG00000078549.16 | transcript | ENST00000304166.9 | protein_coding | 16/16 | 2092 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
| ADCYAP1_chr18_899871_917172 | 909873 | AATATAT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp2 others(64): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0026others(20): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0005others(49): Show | 67 | 488 | 0.1373 | -6 | c.*26 others(15): Show |
ADCYAP1 | ENSG00000141433.13 | transcript | ENST00000450565.8 | protein_coding | 5/5 | 266 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
| ADD1_chr4_2838844_2935062 | 2852281 | CTTTTCT | C | intron_variant | MODIFIER | HG01109.hp2 HG02572.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0306a0001c0001t0004g0300a0001c0001t0004g0301others(1): Show | 4 | 320 | 0.0125 | -6 | c.-21 others(23): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ADD1_chr4_2838844_2935062 | 2916162 | ATATTAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(66): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0077others(65): Show | 69 | 320 | 0.2156 | -6 | c.194 others(25): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ADD1_chr4_2838844_2935062 | 2925359 | ATTAATC | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(54): Show |
a0001a0007 | a0001c0001a0001c0004a0007c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009others(53): Show | 57 | 320 | 0.1781 | -6 | c.194 others(23): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ADD1_chr4_2838844_2935062 | 2934281 | GGATCCC | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(48): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009others(47): Show | 51 | 320 | 0.1594 | -6 | c.*57 others(17): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 4220 | chr4 | TogoVar | ||||||
| ADD2_chr2_70651784_70773200 | 70664738 | AGTGTGT | A | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0038a0001c0001t0039others(2): Show | a0001c0001t0030g0102a0001c0001t0030g0103a0001c0001t0038g0116others(3): Show | 6 | 302 | 0.0199 | -6 | c.187 others(25): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 15/15 | chr2 | TogoVar | ||||||
| ADD2_chr2_70651784_70773200 | 70742858 | CTTAATG | C | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0028a0001c0001t0036others(1): Show | a0001c0001t0021g0006a0001c0001t0021g0008a0001c0001t0028g0119others(2): Show | 5 | 302 | 0.0166 | -6 | c.-15 others(27): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 1/15 | chr2 | TogoVar | ||||||
| ADD3_chr10_110002984_110140565 | 110040964 | GTCTCTC | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(206): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0004a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0011others(206): Show | 209 | 288 | 0.7257 | -6 | c.-30 others(25): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ADD3_chr10_110002984_110140565 | 110062200 | TAAAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(48): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0153others(48): Show | 51 | 288 | 0.1771 | -6 | c.-29 others(25): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ADD3_chr10_110002984_110140565 | 110063737 | TTATATA | T | intron_variant | MODIFIER | HG02129.hp1 HG04115.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0015 | a0001c0001t0002g0168a0001c0001t0002g0236a0001c0001t0006g0110others(1): Show | 4 | 288 | 0.0139 | -6 | c.-29 others(25): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ADD3_chr10_110002984_110140565 | 110079427 | TGAGAGA | T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0140a0001c0001t0001g0156a0001c0001t0001g0167others(17): Show | 20 | 288 | 0.0694 | -6 | c.-29 others(25): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ADD3_chr10_110002984_110140565 | 110079457 | AGAGAGT | A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0010 | a0001c0001t0002g0139a0001c0001t0002g0152a0001c0001t0007g0266others(2): Show | 5 | 288 | 0.0174 | -6 | c.-29 others(25): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ADD3_chr10_110002984_110140565 | 110079461 | AGTGTGT | A | intron_variant | MODIFIER | HG01496.hp1 HG02129.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015 | a0001c0001t0001g0271a0001c0001t0003g0001a0001c0001t0003g0276others(1): Show | 5 | 288 | 0.0174 | -6 | c.-29 others(25): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ADD3_chr10_110002984_110140565 | 110118019 | TACACAC | T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01243.hp1 others(8): Show |
a0001a0003a0004 | a0001c0001a0001c0009a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0002others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0148others(8): Show | 11 | 288 | 0.0382 | -6 | c.568 others(21): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ADGB_chr6_146593972_146820462 | 146600924 | GCGCACA | G | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG03209.hp2 others(3): Show |
a0002a0003a0014 | a0002c0003a0003c0005a0003c0034others(3): Show | a0002c0003t0001a0003c0005t0001a0003c0034t0001others(3): Show | a0002c0003t0001g0238a0003c0005t0001g0242a0003c0034t0001g0239others(3): Show | 6 | 276 | 0.0217 | -6 | c.74+ others(21): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ADGB_chr6_146593972_146820462 | 146600926 | GCACACA | G | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG00642.hp2 others(86): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0004others(36): Show | a0001c0001t0002a0001c0002t0002a0001c0004t0002others(37): Show | a0001c0001t0002g0027a0001c0001t0002g0038a0001c0001t0002g0044others(86): Show | 89 | 276 | 0.3225 | -6 | c.74+ others(21): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ADGB_chr6_146593972_146820462 | 146662956 | CATATAA | C | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02109.hp1 others(3): Show |
a0004a0005a0007others(2): Show | a0004c0008a0005c0007a0007c0017others(2): Show | a0004c0008t0002a0005c0007t0001a0007c0017t0001others(2): Show | a0004c0008t0002g0229a0005c0007t0001g0232a0007c0017t0001g0230others(3): Show | 6 | 276 | 0.0217 | -6 | c.613 others(23): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 5/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ADGB_chr6_146593972_146820462 | 146691411 | AATATAT | A | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01167.hp1 others(47): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0002a0001c0002t0002a0001c0004t0002others(11): Show | a0001c0001t0002g0027a0001c0001t0002g0038a0001c0001t0002g0077others(47): Show | 50 | 276 | 0.1812 | -6 | c.148 others(23): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ADGB_chr6_146593972_146820462 | 146802257 | AAACAAC | A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02258.hp1 others(12): Show |
a0003a0005a0009others(5): Show | a0003c0019a0003c0034a0005c0025others(9): Show | a0003c0019t0001a0003c0034t0001a0005c0025t0001others(9): Show | a0003c0019t0001g0015a0003c0034t0001g0236a0003c0034t0001g0239others(12): Show | 15 | 276 | 0.0544 | -6 | c.481 others(23): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 35/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ADGB_chr6_146593972_146820462 | 146819273 | AAAAAAC | A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(148): Show |
a0001a0003a0004others(19): Show | a0001c0001a0001c0002a0001c0004others(40): Show | a0001c0001t0002a0001c0002t0002a0001c0004t0002others(43): Show | a0001c0001t0002g0027a0001c0001t0002g0038a0001c0001t0002g0044others(147): Show | 151 | 276 | 0.5471 | -6 | c.*40 others(17): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 3812 | chr6 | TogoVar | ||||||
| ADGRA2_chr8_37791883_37849896 | 37796226 | AACACAC | A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01884.hp2 HG02056.hp2 others(13): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(7): Show | a0001c0001t0001g0232a0001c0001t0001g0239a0001c0001t0006g0223others(13): Show | 16 | 370 | 0.0432 | -6 | c.-10 others(17): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 656 | chr8 | TogoVar | ||||||
| ADGRA2_chr8_37791883_37849896 | 37804100 | GACACAC | G | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02451.hp1 others(8): Show |
a0001a0006a0010 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0198a0001c0001t0001g0201a0001c0002t0001g0200others(8): Show | 11 | 370 | 0.0297 | -6 | c.266 others(23): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ADGRA2_chr8_37791883_37849896 | 37808558 | CTGTGTG | C | intron_variant | MODIFIER | NA18980.hp1 NA19011.hp2 NA19085.hp1 |
a0001a0008 | a0001c0001a0008c0019 | a0001c0001t0001a0008c0019t0001 | a0001c0001t0001g0250a0001c0001t0001g0251a0008c0019t0001g0310 | 3 | 370 | 0.0081 | -6 | c.267 others(23): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ADGRA2_chr8_37791883_37849896 | 37812153 | GTGTTGT | G | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00597.hp1 others(43): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(11): Show | a0001c0001t0001g0020a0001c0001t0001g0030a0001c0001t0001g0079others(42): Show | 46 | 370 | 0.1243 | -6 | c.267 others(23): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ADGRA2_chr8_37791883_37849896 | 37816927 | AACACAC | A | intron_variant | MODIFIER | HG02055.hp1 HG02970.hp1 HG03139.hp2 others(7): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0078a0001c0003t0001g0082a0001c0004t0001g0150others(7): Show | 10 | 370 | 0.0270 | -6 | c.338 others(23): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ADGRA2_chr8_37791883_37849896 | 37822415 | ATGCTCT | A | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG02615.hp1 others(7): Show |
a0001a0005a0006others(1): Show | a0001c0002a0001c0004a0005c0014others(2): Show | a0001c0002t0001a0001c0002t0007a0001c0004t0001others(6): Show | a0001c0002t0001g0212a0001c0002t0007g0152a0001c0004t0001g0202others(7): Show | 10 | 370 | 0.0270 | -6 | c.339 others(23): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ADGRA2_chr8_37791883_37849896 | 37836038 | AACACAC | A | intron_variant | MODIFIER | HG00558.hp2 HG01070.hp1 HG01070.hp2 others(26): Show |
a0001a0006a0020 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0059others(26): Show | 29 | 370 | 0.0784 | -6 | c.205 others(23): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ADGRA2_chr8_37791883_37849896 | 37847928 | TTTATTA | T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02451.hp2 others(9): Show |
a0001a0005a0007others(1): Show | a0001c0002a0001c0003a0005c0014others(3): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0007others(6): Show | a0001c0002t0001g0161a0001c0002t0005g0243a0001c0002t0007g0152others(9): Show | 12 | 370 | 0.0324 | -6 | c.*55 others(17): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 3033 | chr8 | TogoVar | ||||||
| ADGRA3_chr4_22382376_22521066 | 22390397 | TATATAA | T | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG03041.hp2 others(5): Show |
a0001a0005a0013 | a0001c0001a0001c0002a0005c0013others(1): Show | a0001c0001t0003a0001c0002t0001a0005c0013t0001others(1): Show | a0001c0001t0003g0287a0001c0002t0001g0028a0001c0002t0001g0095others(5): Show | 8 | 290 | 0.0276 | -6 | c.262 others(25): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 17/18 | chr4 | TogoVar | ||||||
| ADGRA3_chr4_22382376_22521066 | 22410130 | TAGAAAA | T | intron_variant | MODIFIER | HG00408.hp1 HG01109.hp1 HG01891.hp2 others(15): Show |
a0001a0002a0007others(3): Show | a0001c0002a0001c0031a0001c0035others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0031t0001others(6): Show | a0001c0002t0001g0094a0001c0002t0001g0095a0001c0002t0001g0199others(15): Show | 18 | 290 | 0.0621 | -6 | c.223 others(25): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 14/18 | chr4 | TogoVar |