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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF276_chr16_89716537_89745925 | 89717846 | TACGTCCA others(59): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0273 | 1 | 420 | 0.0024 | -66 | c.-37 others(77): Show |
ZNF276 | ENSG00000158805.12 | transcript | ENST00000443381.7 | protein_coding | 3690 | chr16 | TogoVar | ||||||
ZNF276_chr16_89716537_89745925 | 89717888 | GGGCTCCC others(59): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp2 HG03239.hp2 HG03704.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0015 | a0001c0001t0001a0002c0002t0007a0002c0002t0019others(1): Show | a0001c0001t0001g0220a0002c0002t0007g0025a0002c0002t0007g0105others(3): Show | 7 | 420 | 0.0167 | -66 | c.-37 others(77): Show |
ZNF276 | ENSG00000158805.12 | transcript | ENST00000443381.7 | protein_coding | 3648 | chr16 | TogoVar | ||||||
ZNF276_chr16_89716537_89745925 | 89717908 | ATCCCACG others(59): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0040a0001c0001t0012g0197 | 2 | 420 | 0.0048 | -66 | c.-37 others(77): Show |
ZNF276 | ENSG00000158805.12 | transcript | ENST00000443381.7 | protein_coding | 3628 | chr16 | TogoVar | ||||||
ZNF419_chr19_57482750_57501098 | 57499396 | GTCCATCA others(59): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01109.hp2 others(64): Show |
a0002a0005 | a0002c0002a0002c0011a0005c0016 | a0002c0002t0005a0002c0002t0006a0002c0002t0007others(12): Show | a0002c0002t0005g0004a0002c0002t0005g0013a0002c0002t0006g0004others(31): Show | 67 | 418 | 0.1603 | -66 | c.*53 others(77): Show |
ZNF419 | ENSG00000105136.22 | transcript | ENST00000221735.12 | protein_coding | 3299 | chr19 | TogoVar | ||||||
ZNF419_chr19_57482750_57501098 | 57499572 | TCTCCATC others(59): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(192): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(61): Show | 195 | 418 | 0.4665 | -66 | c.*54 others(77): Show |
ZNF419 | ENSG00000105136.22 | transcript | ENST00000221735.12 | protein_coding | 3475 | chr19 | TogoVar | ||||||
ZNF573_chr19_37733302_37784586 | 37751069 | TATATATA others(59): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01175.hp2 HG01496.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0003a0001c0001t0001g0210a0001c0001t0001g0213others(17): Show | 22 | 350 | 0.0629 | -66 | c.296 others(85): Show |
ZNF573 | ENSG00000189144.15 | transcript | ENST00000536220.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
ZNF672_chr1_248833224_248854517 | 248841368 | ATGTTGCC others(59): Show |
A | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 430 | 0.0023 | -66 | c.-47 others(85): Show |
ZNF672 | ENSG00000171161.13 | transcript | ENST00000306562.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZNF773_chr19_57494938_57513229 | 57499396 | GTCCATCA others(59): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01099.hp2 others(70): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0007a0002c0002t0008others(2): Show | a0002c0002t0004g0003a0002c0002t0004g0011a0002c0002t0004g0017others(21): Show | 73 | 416 | 0.1755 | -66 | c.-68 others(75): Show |
ZNF773 | ENSG00000152439.13 | transcript | ENST00000282292.9 | protein_coding | 541 | chr19 | TogoVar | ||||||
ZNF773_chr19_57494938_57513229 | 57499572 | TCTCCATC others(59): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(194): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0006a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(69): Show | 197 | 416 | 0.4736 | -66 | c.-50 others(75): Show |
ZNF773 | ENSG00000152439.13 | transcript | ENST00000282292.9 | protein_coding | 365 | chr19 | TogoVar | ||||||
ZNF862_chr7_149833375_149872479 | 149858875 | ATGGGCCA others(59): Show |
A | intron_variant | MODIFIER | HG01358.hp1 NA18942.hp1 NA18993.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0143a0001c0002t0001g0101a0001c0002t0001g0207 | 3 | 412 | 0.0073 | -66 | c.111 others(83): Show |
ZNF862 | ENSG00000106479.11 | transcript | ENST00000223210.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52803105 | TATATATA others(59): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG02083.hp1 HG04204.hp2 others(17): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0009a0001c0001t0021others(3): Show | a0001c0001t0004g0005a0001c0001t0004g0011a0001c0001t0004g0013others(17): Show | 20 | 352 | 0.0568 | -66 | c.169 others(84): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52803121 | CACATATA others(59): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp2 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0029others(2): Show | a0001c0001t0006g0194a0001c0001t0008g0162a0001c0001t0008g0164others(5): Show | 8 | 352 | 0.0227 | -66 | c.169 others(84): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZZEF1_chr17_3999445_4148030 | 4089576 | CCTGTGTT others(59): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02922.hp2 HG03041.hp1 others(2): Show |
a0004a0006a0011 | a0004c0056a0006c0019a0011c0045 | a0004c0056t0003a0006c0019t0003a0011c0045t0003 | a0004c0056t0003g0221a0006c0019t0003g0222a0006c0019t0003g0223others(2): Show | 5 | 296 | 0.0169 | -66 | c.202 others(83): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 12/54 | chr17 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862641 | GGCCGGGC others(58): Show |
G | intron_variant | MODIFIER | HG03195.hp1 HG03225.hp1 |
a0004a0012 | a0004c0029a0012c0105 | a0004c0029t0001a0012c0105t0024 | a0004c0029t0001g0099a0012c0105t0024g0217 | 2 | 318 | 0.0063 | -65 | c.422 others(80): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42283712 | TACCACCC others(58): Show |
T | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0228 | 1 | 354 | 0.0028 | -65 | c.735 others(80): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | chr21 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8131739 | CAGCACAG others(58): Show |
C | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0172 | 1 | 322 | 0.0031 | -65 | c.11- others(82): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1006907 | GCGCCATG others(58): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(189): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0054a0001c0001t0001g0056others(188): Show | 192 | 337 | 0.5697 | -65 | c.249 others(82): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 22/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1121611 | CCCCAAGG others(58): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 337 | 0.0030 | -65 | c.246 others(82): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162593 | CATTATAT others(58): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0064 | 1 | 228 | 0.0044 | -65 | c.118 others(84): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADORA2B_chr17_15940130_15980746 | 15979829 | GACCCCCC others(58): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01168.hp2 others(9): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0003a0002c0002t0005a0002c0002t0007others(1): Show | a0002c0002t0003g0056a0002c0002t0003g0063a0002c0002t0003g0146others(9): Show | 12 | 346 | 0.0347 | -65 | c.*44 others(76): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 4084 | chr17 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7789531 | CCTGCTTT others(58): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(57): Show |
a0001 | a0001c0002a0001c0004a0001c0007others(4): Show | a0001c0002t0024a0001c0002t0030a0001c0002t0034others(20): Show | a0001c0002t0024g0291a0001c0002t0030g0013a0001c0002t0030g0018others(57): Show | 60 | 318 | 0.1887 | -65 | c.141 others(84): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 11/17 | chr4 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49437753 | TTGTGGAA others(58): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02922.hp2 HG02970.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0087a0001c0001t0002g0018a0001c0001t0002g0084others(4): Show | 7 | 104 | 0.0673 | -65 | c.283 others(86): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 392271 | CGGGCGCA others(58): Show |
C | intron_variant | MODIFIER | HG00140.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0185 | 1 | 268 | 0.0037 | -65 | c.351 others(84): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 429261 | TGGGCCGC others(58): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01106.hp2 HG01123.hp1 others(20): Show |
a0001a0013a0014others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0005a0001c0001t0016a0001c0001t0040others(7): Show | a0001c0001t0005g0054a0001c0001t0005g0055a0001c0001t0005g0068others(20): Show | 23 | 268 | 0.0858 | -65 | c.908 others(82): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AKAP17A_chrX_1586604_1607520 | 1587672 | CCTCCTCT others(58): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02630.hp2 HG02976.hp1 |
a0001a0002a0005 | a0001c0004a0002c0002a0005c0014 | a0001c0004t0001a0002c0002t0002a0005c0014t0011 | a0001c0004t0001g0051a0002c0002t0002g0053a0005c0014t0011g0052 | 3 | 151 | 0.0199 | -65 | c.-41 others(76): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3931 | chrX | TogoVar | ||||||
AKIP1_chr11_8906189_8925079 | 8910644 | TGTGTGTG others(58): Show |
T | upstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 420 | 0.0024 | -65 | c.-58 others(74): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 544 | chr11 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29245100 | CCATGGCT others(58): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG03139.hp2 others(2): Show |
a0002a0003a0004 | a0002c0008a0002c0011a0003c0026others(2): Show | a0002c0008t0001a0002c0011t0001a0003c0026t0002others(2): Show | a0002c0008t0001g0049a0002c0011t0001g0042a0003c0026t0002g0015others(2): Show | 5 | 80 | 0.0625 | -65 | c.220 others(84): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 12/28 | chr2 | TogoVar | ||||||
ANAPC2_chr9_137169784_137193560 | 137184653 | CAGACGCA others(58): Show |
C | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 416 | 0.0024 | -65 | c.104 others(82): Show |
ANAPC2 | ENSG00000176248.9 | transcript | ENST00000323927.3 | protein_coding | 4/12 | chr9 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56467787 | GAAAGAAG others(58): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 |
a0005a0012 | a0005c0013a0012c0015 | a0005c0013t0004a0012c0015t0003 | a0005c0013t0004g0033a0012c0015t0003g0008 | 2 | 112 | 0.0179 | -65 | c.177 others(84): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANO1_chr11_70073317_70194530 | 70121560 | TCTCTCTA others(58): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp1 others(36): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0036a0001c0001t0001g0043a0001c0001t0001g0044others(36): Show | 39 | 302 | 0.1291 | -65 | c.898 others(82): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO3_chr11_26327130_26668289 | 26383497 | TAGATTGA others(58): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG00733.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0020others(8): Show | a0001c0001t0001g0080a0001c0001t0001g0143a0001c0001t0001g0157others(15): Show | 18 | 190 | 0.0947 | -65 | c.46+ others(82): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 1/26 | chr11 | TogoVar | ||||||
ANO7_chr2_241183677_241230976 | 241213119 | AGGCTGGC others(58): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp1 |
a0003a0034 | a0003c0004a0034c0039 | a0003c0004t0010a0034c0039t0001 | a0003c0004t0010g0076a0034c0039t0001g0258 | 2 | 396 | 0.0051 | -65 | c.172 others(82): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANXA2R_chr5_43034371_43045319 | 43043824 | TATATATA others(58): Show |
T | upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 296 | 0.0034 | -65 | c.-38 others(76): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3506 | chr5 | TogoVar | ||||||
ARG2_chr14_67614920_67656708 | 67625693 | AAAAAAAA others(58): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG03017.hp2 HG03710.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0376a0001c0001t0001g0384a0001c0001t0001g0385others(12): Show | 21 | 438 | 0.0480 | -65 | c.184 others(82): Show |
ARG2 | ENSG00000081181.8 | transcript | ENST00000261783.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ARHGAP8_chr22_44747575_44867784 | 44800852 | GGGGGGCG others(58): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0008 | a0008c0014 | a0008c0014t0005 | a0008c0014t0005g0287 | 1 | 390 | 0.0026 | -65 | c.80- others(80): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1889598 | CACTGAGT others(58): Show |
C | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0243 | 1 | 363 | 0.0028 | -65 | c.118 others(84): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF38_chr4_105547620_105685914 | 105561400 | TAATAGAA others(58): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0024 | 1 | 186 | 0.0054 | -65 | c.196 others(82): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ARHGEF38_chr4_105547620_105685914 | 105561424 | GGAATAGA others(58): Show |
G | intron_variant | MODIFIER | HG01361.hp2 NA20300.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0079a0002c0001t0001g0097 | 2 | 186 | 0.0108 | -65 | c.196 others(82): Show |
ARHGEF38 | ENSG00000236699.9 | transcript | ENST00000420470.3 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ARMC7_chr17_75104969_75135272 | 75124659 | ATTCGTTG others(58): Show |
A | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 402 | 0.0025 | -65 | c.236 others(82): Show |
ARMC7 | ENSG00000125449.7 | transcript | ENST00000245543.6 | protein_coding | 2/2 | chr17 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112840411 | TTACTCTC others(58): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02970.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0013a0001c0002t0053a0001c0009t0049 | a0001c0002t0013g0117a0001c0002t0053g0116a0001c0009t0049g0141 | 3 | 254 | 0.0118 | -65 | c.170 others(84): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112840448 | CTCTCATC others(58): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01123.hp2 HG02129.hp2 others(9): Show |
a0001a0003 | a0001c0004a0001c0006a0003c0012 | a0001c0004t0001a0001c0004t0002a0001c0004t0006others(4): Show | a0001c0004t0001g0224a0001c0004t0002g0208a0001c0004t0006g0061others(9): Show | 12 | 254 | 0.0472 | -65 | c.170 others(84): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A1_chr4_42403373_42662105 | 42555085 | GTATCTAT others(58): Show |
G | intron_variant | MODIFIER | HG02155.hp2 HG02258.hp2 HG02818.hp1 others(9): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0003t0008a0001c0004t0003others(3): Show | a0001c0003t0002g0168a0001c0003t0002g0169a0001c0003t0002g0170others(9): Show | 12 | 310 | 0.0387 | -65 | c.141 others(82): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50086705 | TTATTATA others(58): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 HG02896.hp2 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0002a0001c0001t0010a0001c0001t0019others(3): Show | a0001c0001t0002g0064a0001c0001t0010g0092a0001c0001t0019g0035others(3): Show | 6 | 254 | 0.0236 | -65 | c.29- others(82): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79246124 | AGGGCACC others(58): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03540.hp2 |
a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0285a0001c0006t0007g0286 | 2 | 298 | 0.0067 | -65 | c.110 others(84): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79377566 | GTCACCCC others(58): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0187 | 1 | 298 | 0.0034 | -65 | c.*21 others(74): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 30/30 | 211 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
AVL9_chr7_32490489_32593726 | 32579471 | ATTATATT others(58): Show |
A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0122 | a0001c0001t0122g0196 | 1 | 330 | 0.0030 | -65 | c.168 others(82): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BAG6_chr6_31634028_31657661 | 31654528 | AAAATTAG others(58): Show |
A | upstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 427 | 0.0023 | -65 | c.-21 others(76): Show |
BAG6 | ENSG00000204463.14 | transcript | ENST00000676615.2 | protein_coding | 1868 | chr6 | TogoVar | ||||||
BCL9_chr1_147536501_147631216 | 147541070 | TGAGAGAG others(58): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01516.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0249a0001c0001t0002g0255a0001c0001t0003g0028 | 3 | 316 | 0.0095 | -65 | c.-10 others(76): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 430 | chr1 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510619 | TGTGTGTG others(58): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01255.hp1 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0057a0001c0001t0103 | a0001c0001t0019g0189a0001c0001t0019g0190a0001c0001t0057g0096others(1): Show | 4 | 319 | 0.0125 | -65 | c.*12 others(76): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1211 | chr3 | TogoVar | |||||
BOP1_chr8_144257045_144296438 | 144286329 | CGGGCGCC others(58): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0374 | 1 | 398 | 0.0025 | -65 | c.309 others(82): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar |