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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTL7B_chr9_108849588_108860986 | 108858835 | T | TACAC | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02280.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 470 | 0.0064 | 4 | c.-29 others(15): Show |
ACTL7B | ENSG00000148156.8 | transcript | ENST00000374667.5 | protein_coding | 2850 | chr9 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17796306 | C | CTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(72): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(72): Show | 75 | 366 | 0.2049 | 4 | c.-24 others(23): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17831310 | A | AGGAC | downstream_gene_variant | MODIFIER | NA18612.hp1 NA18951.hp1 NA18961.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0029a0001c0003t0001g0030a0001c0003t0001g0031others(5): Show | 8 | 366 | 0.0219 | 4 | c.*47 others(15): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 4248 | chr1 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8694853 | A | AAGAG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00735.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0004g0000others(3): Show | 24 | 356 | 0.0674 | 4 | c.*25 others(15): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8694855 | G | GAGAC | downstream_gene_variant | MODIFIER | HG00738.hp2 HG03942.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 356 | 0.0084 | 4 | c.*25 others(15): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2544 | chr19 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8695238 | A | AAAAC | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01891.hp2 others(15): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0004a0003c0003t0001 | a0001c0001t0002g0000a0001c0001t0004g0000a0003c0003t0001g0000 | 18 | 356 | 0.0506 | 4 | c.*22 others(15): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2161 | chr19 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8699596 | A | AAAAC | upstream_gene_variant | MODIFIER | HG01952.hp1 HG02622.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 356 | 0.0084 | 4 | c.-89 others(13): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 802 | chr19 | TogoVar | ||||||
ACTL9_chr19_8692400_8703795 | 8701362 | G | GAACA | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02647.hp1 HG02723.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 12 | 356 | 0.0337 | 4 | c.-26 others(15): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2568 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40747538 | C | CTAAA | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG01496.hp2 others(22): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0028others(6): Show | a0001c0001t0005g0120a0001c0001t0008g0007a0001c0001t0008g0044others(11): Show | 25 | 426 | 0.0587 | 4 | c.323 others(21): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40755257 | C | CTTTT | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0003a0001c0004a0001c0006others(1): Show | a0001c0003t0010a0001c0004t0012a0001c0004t0016others(2): Show | a0001c0003t0010g0013a0001c0004t0012g0017a0001c0004t0016g0066others(2): Show | 7 | 426 | 0.0164 | 4 | c.-54 others(15): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4781 | chr19 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68880447 | A | ACGCG | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00642.hp1 others(33): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0186a0001c0001t0001g0195a0001c0001t0001g0202others(33): Show | 36 | 284 | 0.1268 | 4 | c.213 others(21): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 17/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68880464 | T | TACAC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(90): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(7): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0151others(90): Show | 93 | 284 | 0.3275 | 4 | c.213 others(21): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 17/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68932539 | T | TTTTA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0161others(34): Show | 37 | 284 | 0.1303 | 4 | c.106 others(21): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68974552 | T | TCACA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00738.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(2): Show | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0173others(12): Show | 15 | 284 | 0.0528 | 4 | c.105 others(21): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68977800 | T | TCCCC | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00642.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0004others(5): Show | a0001c0001t0002g0106a0001c0001t0002g0107a0001c0001t0002g0109others(18): Show | 21 | 284 | 0.0739 | 4 | c.105 others(21): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236689358 | T | TTATA | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01168.hp2 others(22): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0114a0001c0001t0004g0117a0001c0001t0004g0119others(22): Show | 25 | 344 | 0.0727 | 4 | c.126 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236693177 | G | GCACA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(56): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0041a0001c0001t0001g0139a0001c0001t0001g0141others(56): Show | 59 | 344 | 0.1715 | 4 | c.126 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709218 | C | CTGTG | intron_variant | MODIFIER | HG01261.hp1 HG02486.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0145a0001c0001t0002g0156a0001c0001t0003g0138others(4): Show | 7 | 344 | 0.0204 | 4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709220 | G | GTATA | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG01071.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0211a0001c0001t0001g0221a0001c0001t0001g0244others(10): Show | 13 | 344 | 0.0378 | 4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709251 | T | TACAC | intron_variant | MODIFIER | HG02129.hp2 HG03239.hp2 HG03710.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0006a0001c0001t0001g0312a0001c0001t0019g0250others(1): Show | 4 | 344 | 0.0116 | 4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709253 | T | TACAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(37): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0159a0001c0001t0001g0269a0001c0001t0001g0275others(37): Show | 40 | 344 | 0.1163 | 4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236709344 | G | GTATA | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG02055.hp2 others(15): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0003t0002others(8): Show | a0001c0001t0003g0238a0001c0001t0004g0059a0001c0003t0002g0170others(15): Show | 18 | 344 | 0.0523 | 4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236716835 | A | ATTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(187): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(187): Show | 190 | 344 | 0.5523 | 4 | c.127 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236721015 | G | GGTTT | intron_variant | MODIFIER | HG00438.hp1 HG03471.hp2 NA18969.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0153a0001c0001t0003g0268a0001c0001t0003g0343others(1): Show | 4 | 344 | 0.0116 | 4 | c.448 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236721022 | G | GTTTT | intron_variant | MODIFIER | HG00609.hp1 HG02015.hp2 HG02647.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0041a0001c0001t0001g0139a0001c0001t0001g0141others(13): Show | 16 | 344 | 0.0465 | 4 | c.448 others(19): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236737297 | G | GTATA | intron_variant | MODIFIER | HG00673.hp2 NA18941.hp2 NA18998.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0041a0001c0001t0001g0141a0001c0001t0001g0144others(2): Show | 5 | 344 | 0.0145 | 4 | c.876 others(17): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236761432 | C | CGTGT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(93): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(18): Show | a0001c0001t0002g0156a0001c0001t0004g0075a0001c0001t0004g0200others(93): Show | 96 | 344 | 0.2791 | 4 | c.252 others(21): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38650737 | G | GTTGT | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
a0001a0005 | a0001c0002a0001c0007a0005c0018 | a0001c0002t0040a0001c0007t0001a0005c0018t0001 | a0001c0002t0040g0203a0001c0007t0001g0200a0001c0007t0001g0202others(2): Show | 5 | 314 | 0.0159 | 4 | c.162 others(21): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38679568 | C | CGTGT | intron_variant | MODIFIER | HG01358.hp1 HG02559.hp2 NA18959.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0001 | a0001c0002t0001g0036a0001c0002t0001g0042a0001c0010t0001g0292 | 3 | 314 | 0.0096 | 4 | c.163 others(23): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38688390 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0011a0001c0001t0025a0001c0001t0026others(8): Show | a0001c0001t0011g0281a0001c0001t0025g0286a0001c0001t0026g0287others(23): Show | 27 | 314 | 0.0860 | 4 | c.163 others(23): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38735888 | G | GGGGC | downstream_gene_variant | MODIFIER | HG04115.hp1 NA18981.hp1 NA19030.hp2 |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0048 | a0001c0004t0005g0224a0001c0004t0005g0231a0001c0004t0048g0223 | 3 | 314 | 0.0096 | 4 | c.*64 others(15): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4300 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735926 | G | GGTTC | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001a0005 | a0001c0007a0005c0018 | a0001c0007t0001a0005c0018t0001 | a0001c0007t0001g0200a0001c0007t0001g0202a0001c0007t0001g0204others(1): Show | 4 | 314 | 0.0127 | 4 | c.*64 others(15): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4338 | chr19 | TogoVar | ||||||
ACTR10_chr14_58195149_58240636 | 58207313 | A | ATTTG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00738.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0016others(1): Show | a0001c0001t0003g0001a0001c0001t0003g0017a0001c0001t0003g0018others(46): Show | 58 | 322 | 0.1801 | 4 | c.151 others(19): Show |
ACTR10 | ENSG00000131966.14 | transcript | ENST00000254286.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ACTR1A_chr10_102474229_102507712 | 102476042 | G | GTTTT | downstream_gene_variant | MODIFIER | HG01952.hp2 HG02148.hp1 HG02738.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019a0001c0001t0003g0005a0001c0001t0003g0013others(4): Show | 8 | 388 | 0.0206 | 4 | c.*48 others(15): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 3186 | chr10 | TogoVar | ||||||
ACTR1A_chr10_102474229_102507712 | 102494655 | C | CCAAA | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01891.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0200a0001c0001t0004g0022a0001c0001t0004g0023others(11): Show | 17 | 388 | 0.0438 | 4 | c.49- others(19): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ACTR1A_chr10_102474229_102507712 | 102500600 | C | CAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0020a0001c0001t0001g0042others(35): Show | 47 | 388 | 0.1211 | 4 | c.48+ others(19): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65223004 | C | CTCTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(268): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(224): Show | 271 | 326 | 0.8313 | 4 | c.-49 others(15): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 4826 | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65225849 | A | ATTTT | upstream_gene_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0019 | a0001c0001t0010g0036a0001c0001t0010g0229a0001c0001t0010g0230others(2): Show | 6 | 326 | 0.0184 | 4 | c.-20 others(15): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1981 | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65236481 | C | CTTAT | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038a0001c0001t0002g0245a0001c0001t0002g0246 | 4 | 326 | 0.0123 | 4 | c.49- others(19): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65245999 | A | ATAAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(252): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(205): Show | 255 | 326 | 0.7822 | 4 | c.160 others(19): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR2_chr2_65222831_65276253 | 65267862 | C | CTTTT | intron_variant | MODIFIER | HG02647.hp1 HG02896.hp2 HG03041.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228a0001c0001t0002g0234a0001c0001t0002g0235others(5): Show | 8 | 326 | 0.0245 | 4 | c.101 others(21): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152760457 | C | CACCT | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG02083.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(2): Show | 5 | 310 | 0.0161 | 4 | c.44+ others(17): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152765127 | T | TTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(95): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0184a0001c0001t0001g0186others(94): Show | 98 | 310 | 0.3161 | 4 | c.44+ others(19): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152789041 | C | CAATA | intron_variant | MODIFIER | HG01952.hp1 HG02145.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0298others(4): Show | 7 | 310 | 0.0226 | 4 | c.100 others(21): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152789049 | A | AACAG | intron_variant | MODIFIER | HG00597.hp2 HG01884.hp1 HG02027.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0201a0001c0001t0001g0207a0001c0001t0001g0224others(15): Show | 18 | 310 | 0.0581 | 4 | c.100 others(21): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152812019 | C | CTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0003a0001c0001t0001g0268a0001c0001t0001g0291others(3): Show | 7 | 310 | 0.0226 | 4 | c.337 others(21): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152829044 | G | GTGTA | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG02083.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(2): Show | 5 | 310 | 0.0161 | 4 | c.951 others(21): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3C_chr7_150242212_150328545 | 150259271 | G | GGAAA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0044a0001c0001t0001g0170a0001c0001t0001g0200others(45): Show | 49 | 294 | 0.1667 | 4 | c.565 others(23): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150259273 | A | AAAAG | intron_variant | MODIFIER | HG02723.hp2 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0002g0266a0002c0002t0001g0268others(2): Show | 6 | 294 | 0.0204 | 4 | c.565 others(23): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150261701 | C | CAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02717.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0210a0001c0001t0001g0227a0001c0001t0005g0198others(7): Show | 10 | 294 | 0.0340 | 4 | c.565 others(23): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar |