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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRNL1_chr10_115088365_115953999 | 115547264 | ATAT | A | intron_variant | MODIFIER | HG03041.hp1 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0031 | a0001c0003t0003g0060a0001c0003t0031g0016 | 2 | 128 | 0.0156 | -3 | c.371 others(22): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115548289 | CATT | C | intron_variant | MODIFIER | HG02809.hp1 HG03041.hp1 HG03486.hp2 |
a0001a0002 | a0001c0003a0001c0011a0002c0004 | a0001c0003t0003a0001c0011t0002a0002c0004t0002 | a0001c0003t0003g0060a0001c0011t0002g0116a0002c0004t0002g0012 | 3 | 128 | 0.0234 | -3 | c.371 others(22): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115569776 | CTTT | C | intron_variant | MODIFIER | HG01071.hp2 HG01515.hp2 HG02055.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0098a0001c0001t0001g0120a0001c0001t0001g0124others(16): Show | 19 | 128 | 0.1484 | -3 | c.379 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115579048 | ATTG | A | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01071.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0065others(40): Show | 43 | 128 | 0.3359 | -3 | c.379 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115600929 | CTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0007a0001c0005t0032 | a0001c0005t0007g0002a0001c0005t0007g0004a0001c0005t0007g0009others(1): Show | 4 | 128 | 0.0313 | -3 | c.379 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115602448 | AACT | A | intron_variant | MODIFIER | HG02055.hp1 HG02809.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0010a0001c0001t0011a0001c0003t0015others(2): Show | a0001c0001t0010g0033a0001c0001t0010g0034a0001c0001t0011g0119others(3): Show | 6 | 128 | 0.0469 | -3 | c.379 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115604690 | GACA | G | intron_variant | MODIFIER | HG03195.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0043 | a0001c0001t0015g0064a0001c0001t0043g0094 | 2 | 128 | 0.0156 | -3 | c.379 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115646537 | TCTG | T | intron_variant | MODIFIER | HG00639.hp1 HG03239.hp2 |
a0001 | a0001c0012a0001c0013 | a0001c0012t0001a0001c0013t0009 | a0001c0012t0001g0071a0001c0013t0009g0078 | 2 | 128 | 0.0156 | -3 | c.379 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115658090 | CTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01081.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0065others(34): Show | 37 | 128 | 0.2891 | -3 | c.379 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115663563 | TATC | T | intron_variant | MODIFIER | HG00639.hp1 HG03239.hp2 |
a0001 | a0001c0012a0001c0013 | a0001c0012t0001a0001c0013t0009 | a0001c0012t0001g0071a0001c0013t0009g0078 | 2 | 128 | 0.0156 | -3 | c.379 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115682669 | TATG | T | intron_variant | MODIFIER | HG02523.hp1 HG03540.hp2 HG04115.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0006a0001c0001t0008a0001c0001t0046others(1): Show | a0001c0001t0006g0100a0001c0001t0008g0014a0001c0001t0046g0099others(1): Show | 4 | 128 | 0.0313 | -3 | c.379 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115696198 | CACA | C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01891.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(8): Show | a0001c0001t0002g0111a0001c0001t0002g0113a0001c0001t0002g0114others(10): Show | 13 | 128 | 0.1016 | -3 | c.379 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115698182 | TAAG | T | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(9): Show | a0001c0001t0002g0111a0001c0001t0002g0113a0001c0001t0002g0114others(11): Show | 14 | 128 | 0.1094 | -3 | c.379 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115728128 | GAAA | G | intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0008a0001c0001t0048a0001c0002t0004others(4): Show | a0001c0001t0008g0014a0001c0001t0048g0107a0001c0002t0004g0054others(4): Show | 7 | 128 | 0.0547 | -3 | c.390 others(20): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115728298 | CAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01109.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0065a0001c0001t0001g0120a0001c0001t0001g0124others(13): Show | 16 | 128 | 0.1250 | -3 | c.390 others(20): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115730253 | CAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG02615.hp2 HG03209.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0015a0001c0001t0016others(3): Show | a0001c0001t0002g0077a0001c0001t0015g0064a0001c0001t0016g0031others(3): Show | 6 | 128 | 0.0469 | -3 | c.390 others(22): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115762296 | GACT | G | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01071.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0068others(32): Show | 35 | 128 | 0.2734 | -3 | c.390 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115765982 | CCCG | C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00735.hp1 others(106): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0065others(106): Show | 109 | 128 | 0.8516 | -3 | c.390 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115774425 | CAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG02015.hp2 HG02300.hp2 others(10): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0004a0001c0002t0006others(4): Show | a0001c0002t0001g0045a0001c0002t0004g0039a0001c0002t0004g0040others(10): Show | 13 | 128 | 0.1016 | -3 | c.390 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115790256 | GAAA | G | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0019a0001c0001t0020others(2): Show | a0001c0001t0002g0113a0001c0001t0002g0114a0001c0001t0019g0020others(3): Show | 6 | 128 | 0.0469 | -3 | c.390 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115817877 | GTTT | G | intron_variant | MODIFIER | HG01891.hp2 HG01943.hp2 HG02145.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0014a0001c0001t0023others(2): Show | a0001c0001t0003g0074a0001c0001t0014g0001a0001c0001t0023g0022others(2): Show | 5 | 128 | 0.0391 | -3 | c.390 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115818185 | GTTT | G | intron_variant | MODIFIER | HG00639.hp2 HG02145.hp2 HG02280.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(10): Show | a0001c0001t0002g0015a0001c0001t0006g0109a0001c0001t0007g0027others(14): Show | 17 | 128 | 0.1328 | -3 | c.390 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115829044 | CTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015a0001c0001t0016others(3): Show | a0001c0001t0014g0001a0001c0001t0015g0064a0001c0001t0016g0031others(3): Show | 6 | 128 | 0.0469 | -3 | c.390 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115868822 | CTTT | C | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0026a0001c0001t0042a0001c0002t0001others(1): Show | a0001c0001t0026g0010a0001c0001t0042g0095a0001c0002t0001g0050others(1): Show | 4 | 128 | 0.0313 | -3 | c.401 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115869964 | CTTT | C | intron_variant | MODIFIER | HG00741.hp1 HG01891.hp1 HG01952.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0036others(5): Show | a0001c0001t0001g0065a0001c0001t0001g0085a0001c0001t0001g0088others(7): Show | 10 | 128 | 0.0781 | -3 | c.401 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115871491 | ATAT | A | intron_variant | MODIFIER | HG03453.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0011a0001c0010t0006 | a0001c0001t0011g0112a0001c0010t0006g0087 | 2 | 128 | 0.0156 | -3 | c.401 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115903813 | GAGA | G | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00738.hp1 others(66): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0065others(66): Show | 69 | 128 | 0.5391 | -3 | c.401 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115909621 | TAAA | T | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0022a0001c0001t0023a0001c0001t0025others(4): Show | a0001c0001t0022g0032a0001c0001t0023g0022a0001c0001t0025g0021others(4): Show | 7 | 128 | 0.0547 | -3 | c.401 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115918098 | CTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01515.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0001c0001t0020a0001c0001t0042others(1): Show | a0001c0001t0002g0123a0001c0001t0020g0115a0001c0001t0042g0095others(1): Show | 4 | 128 | 0.0313 | -3 | c.401 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115922830 | AGAG | A | intron_variant | MODIFIER | HG01891.hp1 HG03209.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0085a0001c0001t0001g0088a0001c0001t0002g0111 | 3 | 128 | 0.0234 | -3 | c.401 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3484909 | AATT | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00738.hp1 others(33): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0039a0001c0001t0002g0002others(33): Show | 36 | 220 | 0.1636 | -3 | c.410 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3504513 | TAAA | T | intron_variant | MODIFIER | HG01123.hp2 HG01261.hp2 HG01515.hp1 others(2): Show |
a0001a0005 | a0001c0003a0001c0005a0001c0007others(1): Show | a0001c0003t0007a0001c0005t0007a0001c0007t0003others(1): Show | a0001c0003t0007g0187a0001c0003t0007g0188a0001c0005t0007g0184others(2): Show | 5 | 220 | 0.0227 | -3 | c.411 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3504688 | GATA | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp2 others(33): Show |
a0001a0006a0012others(1): Show | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0016others(33): Show | 36 | 220 | 0.1636 | -3 | c.411 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3537487 | CTTG | C | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01106.hp1 others(32): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0005a0001c0006others(11): Show | a0001c0003t0002a0001c0003t0031a0001c0005t0007others(17): Show | a0001c0003t0002g0214a0001c0003t0002g0215a0001c0003t0002g0216others(32): Show | 35 | 220 | 0.1591 | -3 | c.494 others(20): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3544496 | TGTG | T | intron_variant | MODIFIER | HG01074.hp2 HG01257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0140 | 2 | 220 | 0.0091 | -3 | c.609 others(20): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3554990 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
a0001a0006a0007others(5): Show | a0001c0001a0001c0002a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0014others(136): Show | 139 | 220 | 0.6318 | -3 | c.111 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3581629 | ATGT | A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02451.hp2 others(14): Show |
a0002a0005a0011 | a0002c0004a0002c0012a0005c0009others(1): Show | a0002c0004t0004a0002c0004t0011a0002c0004t0016others(5): Show | a0002c0004t0004g0153a0002c0004t0004g0154a0002c0004t0004g0159others(14): Show | 17 | 220 | 0.0773 | -3 | c.254 others(20): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3592607 | AAAC | A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02451.hp2 others(9): Show |
a0002a0005a0011 | a0002c0004a0002c0012a0005c0009others(1): Show | a0002c0004t0004a0002c0012t0012a0002c0012t0013others(3): Show | a0002c0004t0004g0153a0002c0004t0004g0154a0002c0004t0004g0159others(9): Show | 12 | 220 | 0.0546 | -3 | c.332 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3606459 | TGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00738.hp2 others(17): Show |
a0001a0013 | a0001c0002a0001c0007a0013c0024 | a0001c0002t0003a0001c0002t0022a0001c0002t0025others(2): Show | a0001c0002t0003g0028a0001c0002t0003g0034a0001c0002t0003g0037others(17): Show | 20 | 220 | 0.0909 | -3 | c.380 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3608261 | TTAC | T | intron_variant | MODIFIER | HG00673.hp2 NA18612.hp2 |
a0001a0014 | a0001c0001a0014c0026 | a0001c0001t0001a0014c0026t0001 | a0001c0001t0001g0062a0014c0026t0001g0032 | 2 | 220 | 0.0091 | -3 | c.380 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 24/28 | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3653027 | TAAA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00738.hp2 others(71): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0010a0001c0001t0014a0001c0001t0019others(26): Show | a0001c0001t0010g0011a0001c0001t0010g0025a0001c0001t0010g0096others(71): Show | 74 | 220 | 0.3364 | -3 | c.*61 others(14): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1910 | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77504928 | ATGT | A | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG01975.hp2 HG02015.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0122a0001c0001t0004g0185a0001c0001t0004g0186others(9): Show | 12 | 218 | 0.0551 | -3 | c.*34 others(14): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 35/35 | 3420 | chrX | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77530630 | AAAC | A | intron_variant | MODIFIER | HG02602.hp1 HG03239.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0163a0001c0001t0003g0164a0001c0001t0011g0001 | 3 | 218 | 0.0138 | -3 | c.670 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77559449 | CTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02451.hp1 others(16): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0198a0001c0001t0002g0178a0001c0001t0003g0115others(16): Show | 19 | 218 | 0.0872 | -3 | c.632 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 28/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77575514 | AATG | A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 218 | 0.0046 | -3 | c.621 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77580842 | AACT | A | intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 1 | 218 | 0.0046 | -3 | c.621 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77585583 | CAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG01074.hp1 HG01433.hp1 others(22): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0096a0001c0001t0001g0102a0001c0001t0001g0103others(22): Show | 25 | 218 | 0.1147 | -3 | c.621 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77593829 | TAGA | T | conservative_inframe_deletion | MODERATE | HG01109.hp1 | a0005 | a0005c0009 | a0005c0009t0010 | a0005c0009t0010g0086 | 1 | 218 | 0.0046 | -3 | c.597 others(12): Show |
p.Ser others(7): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 26/35 | 6191/11165 | 5974/7479 | 1992/2492 | chrX | TogoVar | ||
ATRX_chrX_77499880_77791216 | 77614998 | GGTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(128): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0087a0001c0001t0001g0195a0001c0001t0001g0198others(128): Show | 131 | 218 | 0.6009 | -3 | c.556 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 22/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77615812 | ATCC | A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0080 | 1 | 218 | 0.0046 | -3 | c.556 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 22/34 | chrX | TogoVar |