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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASMT_chrX_1610059_1648081 | 1610513 | GCCTCCAG others(27): Show |
G | upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 223 | 0.0045 | -34 | c.-46 others(45): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4545 | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1610565 | CCCCTACT others(27): Show |
C | upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 223 | 0.0045 | -34 | c.-46 others(45): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4493 | chrX | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189665596 | GTGTATAT others(27): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0122 | 1 | 340 | 0.0029 | -34 | c.-93 others(49): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASRGL1_chr11_62332448_62398412 | 62362627 | TAAAATAT others(27): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0038 | a0001c0001t0021g0335a0001c0001t0021g0337a0001c0001t0038g0338 | 3 | 370 | 0.0081 | -34 | c.491 others(51): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ASTN2_chr9_116418112_117420057 | 116530118 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0055 | 1 | 102 | 0.0098 | -34 | c.335 others(55): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116623147 | CTGTGTGT others(27): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01081.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(8): Show | a0001c0001t0001g0054a0001c0001t0004g0060a0001c0002t0001g0042others(13): Show | 16 | 102 | 0.1569 | -34 | c.307 others(53): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | ||||||
ASTN2_chr9_116418112_117420057 | 116803500 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03209.hp2 NA19043.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0006a0001c0005t0005 | a0001c0001t0001g0099a0001c0001t0006g0016a0001c0005t0005g0007others(1): Show | 4 | 102 | 0.0392 | -34 | c.239 others(53): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | ||||||
ATF7IP_chr12_14360682_14507930 | 14494284 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01891.hp1 others(1): Show |
a0003a0008 | a0003c0003a0008c0011 | a0003c0003t0025a0008c0011t0024 | a0003c0003t0025g0171a0003c0003t0025g0172a0008c0011t0024g0147others(1): Show | 4 | 346 | 0.0116 | -34 | c.328 others(53): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATG12_chr5_115823200_115846565 | 115846130 | CGGTTGTG others(27): Show |
C | upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 402 | 0.0025 | -34 | c.-46 others(45): Show |
ATG12 | ENSG00000145782.13 | transcript | ENST00000509910.2 | protein_coding | 4566 | chr5 | TogoVar | ||||||
ATG14_chr14_55361391_55416830 | 55394168 | AGCTAATT others(27): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02965.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0011a0001c0001t0014a0002c0003t0011 | a0001c0001t0011g0102a0001c0001t0014g0281a0001c0001t0014g0282others(4): Show | 7 | 366 | 0.0191 | -34 | c.327 others(51): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 3/9 | chr14 | TogoVar | ||||||
ATG14_chr14_55361391_55416830 | 55402922 | AAAAAATA others(27): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 366 | 0.0027 | -34 | c.222 others(51): Show |
ATG14 | ENSG00000126775.9 | transcript | ENST00000247178.6 | protein_coding | 1/9 | chr14 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96308231 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0320 | 1 | 356 | 0.0028 | -34 | c.430 others(53): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96308250 | ATACACAC others(27): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0257 | 1 | 356 | 0.0028 | -34 | c.430 others(53): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | ||||||
ATG4A_chrX_108086778_108159671 | 108148020 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 249 | 0.0040 | -34 | c.815 others(51): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11545658 | GCTCCGTG others(27): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0037a0001c0002t0042 | a0001c0002t0007g0098a0001c0002t0007g0172a0001c0002t0007g0173others(6): Show | 9 | 292 | 0.0308 | -34 | c.208 others(53): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATL2_chr2_38288954_38382273 | 38325665 | CACACACA others(27): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01106.hp2 HG01952.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0067a0001c0001t0002g0078a0001c0001t0002g0104others(10): Show | 13 | 236 | 0.0551 | -34 | c.364 others(51): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160651289 | TGAACAGT others(27): Show |
T | intron_variant | MODIFIER | NA18953.hp2 | a0004 | a0004c0009 | a0004c0009t0003 | a0004c0009t0003g0053 | 1 | 236 | 0.0042 | -34 | c.676 others(51): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160718621 | AAAGAGAC others(27): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02970.hp1 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0006a0002c0004t0008 | a0002c0003t0006g0220a0002c0004t0008g0221 | 2 | 236 | 0.0085 | -34 | c.-33 others(53): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47528483 | GTGTGTGT others(27): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0297 | 1 | 332 | 0.0030 | -34 | c.776 others(51): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804207 | TTCCCTCC others(27): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG03239.hp1 NA18974.hp1 others(3): Show |
a0001 | a0001c0004a0001c0005a0001c0006others(1): Show | a0001c0004t0002a0001c0005t0063a0001c0006t0001others(1): Show | a0001c0004t0002g0208a0001c0005t0063g0173a0001c0006t0001g0007others(3): Show | 6 | 254 | 0.0236 | -34 | c.163 others(49): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP13A2_chr1_16980958_17016928 | 16985773 | TCTGAAAA others(27): Show |
T | downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 366 | 0.0027 | -34 | c.*41 others(43): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 184 | chr1 | TogoVar | ||||||
ATP1B1_chr1_169101690_169137719 | 169118282 | GAGTGTTG others(27): Show |
G | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 412 | 0.0024 | -34 | c.227 others(51): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP5MC2_chr12_53660170_53681083 | 53667952 | CACACATA others(27): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(63): Show | 141 | 418 | 0.3373 | -34 | c.311 others(51): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138784219 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 376 | 0.0027 | -34 | c.-18 others(51): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138784233 | TACGTATA others(27): Show |
T | intron_variant | MODIFIER | HG03710.hp1 HG04115.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0012a0003c0004t0011 | a0001c0001t0012g0370a0003c0004t0011g0371 | 2 | 376 | 0.0053 | -34 | c.-18 others(51): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 2/21 | chr7 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145221 | AAGAAAGA others(27): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG01981.hp1 HG02273.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0135a0001c0001t0001g0197a0001c0001t0001g0214others(13): Show | 16 | 360 | 0.0444 | -34 | c.639 others(51): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1E1_chr22_17587136_17633749 | 17607559 | TTTAGGAT others(27): Show |
T | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0312a0001c0001t0003g0313 | 2 | 370 | 0.0054 | -34 | c.276 others(51): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 4/8 | chr22 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46546451 | CATATATA others(27): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01255.hp2 HG01257.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0049a0001c0001t0001g0067others(16): Show | 20 | 410 | 0.0488 | -34 | c.-46 others(45): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3875 | chr2 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755685 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG01257.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0086a0001c0001t0002g0090others(12): Show | 15 | 286 | 0.0525 | -34 | c.127 others(51): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53755712 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG02155.hp2 HG03239.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093a0001c0001t0002g0149a0001c0001t0002g0150 | 3 | 286 | 0.0105 | -34 | c.127 others(51): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42636124 | ACACACAC others(27): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(55): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0053a0001c0001t0001g0059a0001c0001t0001g0060others(55): Show | 58 | 310 | 0.1871 | -34 | c.50- others(49): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25829668 | GTATATAT others(27): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG03139.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0014a0001c0015 | a0001c0001t0048a0001c0014t0034a0001c0015t0008 | a0001c0001t0048g0122a0001c0014t0034g0064a0001c0015t0008g0015 | 3 | 122 | 0.0246 | -34 | c.275 others(53): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57731308 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG03130.hp2 NA18612.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0009a0001c0001t0001g0112a0001c0001t0009g0253 | 3 | 314 | 0.0096 | -34 | c.181 others(49): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072960 | CTCTCTCT others(27): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG03704.hp2 HG04228.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0006a0002c0002t0001others(1): Show | a0001c0001t0003g0210a0001c0001t0006g0156a0002c0002t0001g0189others(4): Show | 7 | 254 | 0.0276 | -34 | c.87+ others(49): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072962 | CTCTCTCT others(27): Show |
C | intron_variant | MODIFIER | HG02735.hp2 HG03490.hp2 NA19065.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0003 | a0001c0001t0001g0192a0001c0001t0002g0008a0002c0002t0003g0221 | 3 | 254 | 0.0118 | -34 | c.87+ others(49): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072964 | CTCTCTCT others(27): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0070 | 1 | 254 | 0.0039 | -34 | c.87+ others(49): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072966 | CTCTCTCT others(27): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01081.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0007a0002c0002t0003others(1): Show | a0001c0001t0001g0206a0001c0001t0007g0007a0002c0002t0003g0204others(2): Show | 5 | 254 | 0.0197 | -34 | c.87+ others(49): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072968 | CTCTCTCT others(27): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02165.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0217a0003c0003t0001g0193 | 2 | 254 | 0.0079 | -34 | c.87+ others(49): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115612812 | TTTTGACA others(27): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0060 | 1 | 128 | 0.0078 | -34 | c.379 others(55): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3630916 | CTTTTTTT others(27): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01358.hp2 |
a0001a0003 | a0001c0002a0003c0017 | a0001c0002t0021a0003c0017t0021 | a0001c0002t0021g0004a0003c0017t0021g0199 | 2 | 220 | 0.0091 | -34 | c.386 others(53): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATXN2L_chr16_28817999_28842232 | 28818635 | ACAAAAAA others(27): Show |
A | upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0094 | 1 | 382 | 0.0026 | -34 | c.-46 others(45): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 4363 | chr16 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619512 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 252 | 0.0040 | -34 | c.151 others(51): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619514 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0211 | 1 | 252 | 0.0040 | -34 | c.151 others(51): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619516 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 252 | 0.0040 | -34 | c.151 others(51): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105716665 | GCACACAC others(27): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00741.hp1 others(78): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0078others(78): Show | 81 | 252 | 0.3214 | -34 | c.356 others(53): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579471 | ATTATATT others(27): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(156): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(69): Show | a0001c0001t0001g0012a0001c0001t0001g0048a0001c0001t0001g0176others(156): Show | 159 | 330 | 0.4818 | -34 | c.168 others(51): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32579490 | ATTACATA others(27): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0009 | a0001c0009t0037 | a0001c0009t0037g0312 | 1 | 330 | 0.0030 | -34 | c.168 others(51): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(27): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG03453.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0167a0002c0002t0002g0113 | 2 | 446 | 0.0045 | -34 | c.287 others(49): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
B3GNT6_chr11_77029398_77046973 | 77032674 | TATATACA others(27): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0004 | 1 | 442 | 0.0023 | -34 | c.-18 others(45): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1723 | chr11 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82958796 | TGTGTGTG others(27): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG03017.hp1 NA18747.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0002a0001c0006t0006a0001c0007t0004others(1): Show | a0001c0001t0002g0156a0001c0006t0006g0006a0001c0007t0004g0241others(1): Show | 4 | 266 | 0.0150 | -34 | c.681 others(51): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar |