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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRAID_chr2_27207041_27222157 | 27222052 | TGTCACAA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 302 | 0.0033 | -12 | c.*51 others(23): Show |
ATRAID | ENSG00000138085.18 | transcript | ENST00000380171.9 | protein_coding | 4896 | chr2 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115098453 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01258.hp1 HG01515.hp2 HG01943.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0002g0077a0001c0001t0002g0080a0001c0001t0002g0123others(8): Show | 11 | 128 | 0.0859 | -12 | c.293 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115230870 | TGAGAGAG others(5): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01361.hp2 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015 | a0001c0001t0001g0091a0001c0001t0001g0098a0001c0001t0003g0093others(1): Show | 4 | 128 | 0.0313 | -12 | c.153 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115230911 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0026 | 1 | 128 | 0.0078 | -12 | c.153 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115271165 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG02723.hp1 |
a0002 | a0002c0008a0002c0014 | a0002c0008t0011a0002c0014t0009 | a0002c0008t0011g0073a0002c0014t0009g0072 | 2 | 128 | 0.0156 | -12 | c.210 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115389540 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0074 | 1 | 128 | 0.0078 | -12 | c.317 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115389580 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0007 | a0001c0007t0027 | a0001c0007t0027g0006 | 1 | 128 | 0.0078 | -12 | c.317 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115516712 | ATCTTATG others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00738.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0010a0001c0001t0011a0001c0001t0019others(24): Show | a0001c0001t0010g0018a0001c0001t0011g0119a0001c0001t0019g0020others(42): Show | 45 | 128 | 0.3516 | -12 | c.365 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115527992 | CCCTCCCT others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0014a0001c0001t0008g0082 | 2 | 128 | 0.0156 | -12 | c.371 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115528025 | CCCTCCTT others(5): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0032 | 1 | 128 | 0.0078 | -12 | c.371 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115630827 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0086 | 1 | 128 | 0.0078 | -12 | c.379 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115637990 | TTTTTATA others(5): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0031 | a0001c0003t0031g0016 | 1 | 128 | 0.0078 | -12 | c.379 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115651244 | AGGGCTAC others(5): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 128 | 0.0078 | -12 | c.379 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115728298 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 |
a0001a0002 | a0001c0012a0002c0014 | a0001c0012t0001a0002c0014t0009 | a0001c0012t0001g0071a0002c0014t0009g0072 | 2 | 128 | 0.0156 | -12 | c.390 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115740843 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(12): Show | a0001c0001t0002g0015a0001c0001t0002g0111a0001c0001t0002g0113others(17): Show | 20 | 128 | 0.1563 | -12 | c.390 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115837466 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01515.hp2 HG01891.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0055a0001c0001t0001g0065a0001c0001t0001g0105others(15): Show | 18 | 128 | 0.1406 | -12 | c.390 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115871469 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02717.hp1 HG02818.hp2 |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0003a0001c0003t0014a0001c0007t0027 | a0001c0001t0003g0061a0001c0003t0014g0089a0001c0007t0027g0006 | 3 | 128 | 0.0234 | -12 | c.401 others(33): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3478921 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01106.hp1 others(10): Show |
a0001a0003a0015others(1): Show | a0001c0003a0001c0007a0003c0008others(4): Show | a0001c0003t0010a0001c0003t0035a0001c0003t0037others(7): Show | a0001c0003t0010g0206a0001c0003t0035g0205a0001c0003t0037g0194others(10): Show | 13 | 220 | 0.0591 | -12 | c.410 others(29): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3484909 | AATTATTA others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01106.hp1 others(7): Show |
a0001a0003a0017 | a0001c0003a0001c0007a0003c0008others(3): Show | a0001c0003t0037a0001c0007t0006a0003c0008t0005others(4): Show | a0001c0003t0037g0194a0001c0007t0006g0201a0001c0007t0006g0202others(7): Show | 10 | 220 | 0.0455 | -12 | c.410 others(31): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3485610 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0015 | a0015c0021 | a0015c0021t0034 | a0015c0021t0034g0204 | 1 | 220 | 0.0046 | -12 | c.410 others(31): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3488946 | ATGTTTGT others(5): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0004 | a0004c0016 | a0004c0016t0013 | a0004c0016t0013g0167 | 1 | 220 | 0.0046 | -12 | c.410 others(31): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3492867 | GTGCGCAC others(5): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02145.hp2 others(7): Show |
a0001a0009 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0002a0001c0003t0031a0001c0005t0007others(3): Show | a0001c0003t0002g0214a0001c0003t0002g0215a0001c0003t0002g0216others(7): Show | 10 | 220 | 0.0455 | -12 | c.410 others(31): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3504688 | GATAATAA others(5): Show |
G | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0097 | 1 | 220 | 0.0046 | -12 | c.411 others(31): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3535588 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01358.hp2 NA19043.hp2 |
a0001a0003 | a0001c0001a0003c0008a0003c0017 | a0001c0001t0015a0003c0008t0029a0003c0017t0021 | a0001c0001t0015g0005a0003c0008t0029g0196a0003c0017t0021g0199 | 3 | 220 | 0.0136 | -12 | c.494 others(27): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3539464 | TGAGAAAC others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00733.hp2 others(55): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0002a0001c0003t0002a0001c0003t0005others(29): Show | a0001c0001t0002g0060a0001c0003t0002g0214a0001c0003t0002g0215others(55): Show | 58 | 220 | 0.2636 | -12 | c.495 others(27): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3554305 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0009 | a0009c0020 | a0009c0020t0014 | a0009c0020t0014g0209 | 1 | 220 | 0.0046 | -12 | c.111 others(31): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3587827 | CTGTTTGT others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02976.hp1 others(2): Show |
a0004 | a0004c0011a0004c0016 | a0004c0011t0004a0004c0011t0008a0004c0016t0013others(1): Show | a0004c0011t0004g0165a0004c0011t0008g0168a0004c0011t0008g0173others(2): Show | 5 | 220 | 0.0227 | -12 | c.318 others(31): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3602963 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00639.hp2 others(30): Show |
a0001a0014a0015others(2): Show | a0001c0001a0001c0002a0014c0026others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0014others(30): Show | 33 | 220 | 0.1500 | -12 | c.364 others(31): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3630916 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0096 | 1 | 220 | 0.0046 | -12 | c.386 others(31): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77626028 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01516.hp2 HG01517.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0161a0001c0001t0002g0090a0001c0001t0002g0119others(15): Show | 18 | 218 | 0.0826 | -12 | c.513 others(31): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 19/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77716110 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0202 | 1 | 218 | 0.0046 | -12 | c.133 others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77734208 | AATACATA others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02895.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0069a0001c0001t0007g0067a0001c0001t0007g0068others(1): Show | 4 | 218 | 0.0184 | -12 | c.21- others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77735598 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0111 | 1 | 218 | 0.0046 | -12 | c.21- others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77740053 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115a0001c0001t0003g0137 | 2 | 218 | 0.0092 | -12 | c.21- others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77775715 | CTTTATTT others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073a0001c0001t0005g0074a0001c0001t0005g0075others(1): Show | 4 | 218 | 0.0184 | -12 | c.20+ others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77777191 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02922.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0002a0001c0001t0003a0006c0008t0003 | a0001c0001t0002g0199a0001c0001t0003g0200a0001c0001t0003g0201others(2): Show | 5 | 218 | 0.0229 | -12 | c.20+ others(27): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77786905 | TACACACA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02280.hp1 others(6): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0087a0001c0001t0003g0084a0001c0001t0003g0085others(6): Show | 9 | 218 | 0.0413 | -12 | c.-91 others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 690 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77790932 | GTGTATAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01099.hp1 HG01975.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0195a0001c0001t0002g0142a0001c0001t0002g0158others(20): Show | 23 | 218 | 0.1055 | -12 | c.-49 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4717 | chrX | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142486959 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01256.hp1 HG01258.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0185a0003c0003t0001g0186a0003c0003t0001g0187 | 3 | 322 | 0.0093 | -12 | c.607 others(31): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 35/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG03669.hp2 NA18965.hp1 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0001 | a0002c0002t0001g0211a0002c0007t0001g0245 | 2 | 322 | 0.0062 | -12 | c.589 others(27): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142552297 | CAAAGGAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(213): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0006others(12): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0032others(212): Show | 216 | 322 | 0.6708 | -12 | c.280 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 13/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142571465 | CAATAAAT others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01074.hp1 others(20): Show |
a0001a0012 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0092a0001c0004t0001g0156a0001c0004t0001g0316others(20): Show | 23 | 322 | 0.0714 | -12 | c.60- others(27): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/46 | chr3 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45667946 | GATATATA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 316 | 0.0032 | -12 | c.-41 others(23): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 3887 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45727327 | ATCTATAT others(5): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 316 | 0.0032 | -12 | c.729 others(29): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45740679 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0064others(5): Show | 8 | 316 | 0.0253 | -12 | c.117 others(29): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45740709 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0086 | 1 | 316 | 0.0032 | -12 | c.117 others(29): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45740711 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018 | a0001c0001t0006g0117a0001c0001t0006g0119a0001c0001t0018g0118 | 3 | 316 | 0.0095 | -12 | c.117 others(29): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45751739 | GGAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02572.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0067others(5): Show | 8 | 316 | 0.0253 | -12 | c.117 others(33): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45751754 | ATAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02055.hp2 HG02109.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0065a0001c0001t0001g0071a0001c0001t0001g0072others(21): Show | 24 | 316 | 0.0760 | -12 | c.117 others(33): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45751760 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0090 | 2 | 316 | 0.0063 | -12 | c.117 others(33): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |