view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GALT1_chr2_167288001_167879045 | 167516422 | TAATGTCA others(8): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 116 | 0.0086 | -15 | c.-41 others(36): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
B3GALT9_chr9_120788467_120806787 | 120789319 | TTTTCTCC others(8): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -15 | c.-47 others(26): Show |
B3GALT9 | ENSG00000214654.9 | transcript | ENST00000689072.1 | protein_coding | 4147 | chr9 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70886782 | CCTGCAAG others(8): Show |
C | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 314 | 0.0032 | -15 | c.736 others(32): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
B3GNT2_chr2_62191115_62229731 | 62197092 | GGGGGTGG others(8): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0243 | 1 | 404 | 0.0025 | -15 | c.-10 others(30): Show |
B3GNT2 | ENSG00000170340.11 | transcript | ENST00000301998.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17815775 | TATTCATA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0035 | a0001c0003t0035g0175 | 1 | 404 | 0.0025 | -15 | c.*36 others(26): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2200 | chr19 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 511013 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01106.hp1 others(19): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0044others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0020others(16): Show | a0001c0001t0001g0116 a0001c0001t0001g0223 a0001c0001t0006g0062 others(19): Show |
22 | 61 | 0.3607 | -15 | c.170 others(34): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 520285 | CGTGATTT others(8): Show |
C | intron_variant | MODIFIER | NA18951.hp1 NA18995.hp1 NA19005.hp2 |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0025a0002c0003t0034a0004c0005t0015 | a0002c0003t0025g0061 a0002c0003t0034g0056 a0004c0005t0015g0060 |
3 | 392 | 0.0077 | -15 | c.170 others(34): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 545887 | CGAGGAGT others(8): Show |
C | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 | 1 | 383 | 0.0026 | -15 | c.639 others(30): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 371114 | GAGGGGGC others(8): Show |
G | intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 | 1 | 182 | 0.0055 | -15 | c.152 others(30): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 373494 | TCCCAGGT others(8): Show |
T | conservative_inframe_deletion | MODERATE | HG03490.hp2 | a0020 | a0020c0032 | a0020c0032t0001 | a0020c0032t0001g0147 | 1 | 182 | 0.0055 | -15 | c.685 others(22): Show |
p.Gln others(13): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 7/20 | 990/3750 | 685/3120 | 229/1039 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
B4GALNT4_chr11_364499_387117 | 375020 | GAGGGAGG others(8): Show |
G | intron_variant | MODIFIER | HG03927.hp2 | a0005 | a0005c0023 | a0005c0023t0001 | a0005c0023t0001g0125 | 1 | 83 | 0.0120 | -15 | c.784 others(30): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375152 | AGGAAGGG others(8): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01106.hp1 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0036a0004c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0036t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0098 a0001c0001t0002g0130 others(3): Show |
7 | 175 | 0.0400 | -15 | c.784 others(30): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33111250 | CAAAAAAA others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18992.hp1 NA19000.hp1 NA19006.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0007 a0001c0001t0014g0051 a0001c0001t0014g0104 |
4 | 221 | 0.0181 | -15 | c.*21 others(26): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 6/6 | 2189 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33152309 | AATAACAT others(8): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02647.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0174 a0001c0001t0020g0175 a0001c0001t0020g0176 |
3 | 272 | 0.0110 | -15 | c.412 others(34): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33152356 | TAACATAA others(8): Show |
T | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 360 | 0.0028 | -15 | c.412 others(34): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49665440 | GTAATAAT others(8): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0001 | a0001c0001t0012g0090 a0001c0001t0012g0091 a0001c0002t0001g0205 |
3 | 189 | 0.0159 | -15 | c.116 others(32): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49685278 | GTCTCTAA others(8): Show |
G | intron_variant | MODIFIER | HG02135.hp1 NA18747.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0307 a0001c0002t0001g0338 |
2 | 362 | 0.0055 | -15 | c.115 others(34): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
B4GALT6_chr18_31617246_31689581 | 31621523 | CAGTGTGT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01071.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0014a0001c0001t0037others(3): Show | a0001c0001t0003g0030 a0001c0001t0003g0061 a0001c0001t0003g0072 others(28): Show |
31 | 304 | 0.1020 | -15 | c.*40 others(26): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 722 | chr18 | TogoVar | |||||||
B4GALT6_chr18_31617246_31689581 | 31629447 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0035 a0001c0001t0013g0170 |
2 | 53 | 0.0377 | -15 | c.776 others(32): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 6/8 | chr18 | TogoVar | |||||||
BAAT_chr9_101355417_101390006 | 101387794 | TTTTTATG others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp2 others(174): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0013a0003c0003others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(9): Show | a0002c0002t0001g0150 a0002c0002t0002g0002 a0002c0002t0002g0005 others(56): Show |
177 | 416 | 0.4255 | -15 | c.-30 others(26): Show |
BAAT | ENSG00000136881.12 | transcript | ENST00000259407.7 | protein_coding | 2789 | chr9 | TogoVar | |||||||
BABAM1_chr19_17262443_17284337 | 17273549 | TTTTTTGT others(8): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01981.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0084 a0001c0001t0002g0003 a0001c0002t0001g0006 others(3): Show |
6 | 422 | 0.0142 | -15 | c.345 others(30): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28259074 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 a0001c0001t0003g0019 |
2 | 21 | 0.0952 | -15 | c.934 others(34): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28315421 | TTTTTCTT others(8): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG00738.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0075 others(20): Show |
23 | 43 | 0.5349 | -15 | c.108 others(36): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90102791 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0020a0001c0001t0042a0001c0001t0070others(4): Show | a0001c0001t0020g0089 a0001c0001t0042g0094 a0001c0001t0070g0147 others(4): Show |
7 | 66 | 0.1061 | -15 | c.-16 others(36): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90120238 | GTCCATGA others(8): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0051a0001c0002t0007a0001c0004t0047others(2): Show | a0001c0001t0051g0150 a0001c0002t0007g0030 a0001c0004t0047g0151 others(2): Show |
5 | 192 | 0.0260 | -15 | c.-16 others(36): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90279631 | GTTTCTTG others(8): Show |
G | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0046 | 1 | 192 | 0.0052 | -15 | c.-44 others(34): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119681382 | TGCCATCC others(8): Show |
T | downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0281 | 1 | 418 | 0.0024 | -15 | c.*41 others(26): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3564 | chr10 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38201861 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 304 | 0.0033 | -15 | c.379 others(32): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38201863 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 302 | 0.0033 | -15 | c.379 others(32): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81410591 | AGGCACCA others(8): Show |
A | intron_variant | MODIFIER | NA18983.hp1 NA19043.hp1 NA19066.hp2 |
a0002a0005a0007 | a0002c0019a0005c0005a0007c0007 | a0002c0019t0003a0005c0005t0005a0007c0007t0004 | a0002c0019t0003g0315 a0005c0005t0005g0202 a0007c0007t0004g0317 |
3 | 328 | 0.0091 | -15 | c.178 others(34): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81425045 | GGGTGATG others(8): Show |
G | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0316 | 1 | 330 | 0.0030 | -15 | c.179 others(32): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81425419 | GGGTGATG others(8): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0004 | a0004c0011 | a0004c0011t0023 | a0004c0011t0023g0041 | 1 | 330 | 0.0030 | -15 | c.179 others(32): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81425625 | GATGTGGT others(8): Show |
G | intron_variant | MODIFIER | HG02965.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0257 | 1 | 330 | 0.0030 | -15 | c.179 others(32): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81425640 | TATGTGGT others(8): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0068 | a0002c0068t0007 | a0002c0068t0007g0254 | 1 | 329 | 0.0030 | -15 | c.179 others(32): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81425765 | GTGATGTG others(8): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02647.hp1 |
a0013 | a0013c0027 | a0013c0027t0001 | a0013c0027t0001g0024 a0013c0027t0001g0026 |
2 | 330 | 0.0061 | -15 | c.179 others(32): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81446526 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(54): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0061a0002c0003others(25): Show | a0001c0001t0002a0001c0001t0007a0001c0061t0007others(28): Show | a0001c0001t0002g0177 a0001c0001t0007g0090 a0001c0001t0007g0145 others(54): Show |
57 | 116 | 0.4914 | -15 | c.316 others(32): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98353961 | CAATAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(72): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0002a0001c0003t0003a0001c0003t0010others(11): Show | a0001c0001t0002g0051 a0001c0001t0002g0069 a0001c0003t0003g0084 others(71): Show |
75 | 91 | 0.8242 | -15 | c.214 others(32): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98357041 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0005 | a0001c0005t0020 | a0001c0005t0020g0090 | 1 | 296 | 0.0034 | -15 | c.128 others(32): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81075458 | GGTGGGCT others(8): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0366 a0001c0001t0007g0367 |
2 | 374 | 0.0053 | -15 | c.218 others(32): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81093078 | CCTGGGCT others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0188 a0001c0001t0003g0021 a0001c0001t0003g0052 others(76): Show |
79 | 232 | 0.3405 | -15 | c.489 others(32): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81098992 | CCATCCCC others(8): Show |
C | intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0296 | 1 | 374 | 0.0027 | -15 | c.490 others(30): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101839937 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG00738.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0046 a0001c0002t0001g0110 a0001c0002t0001g0112 others(20): Show |
23 | 51 | 0.4510 | -15 | c.469 others(32): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87948974 | CAAACAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01192.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0001a0001c0002t0008a0001c0007t0001others(9): Show | a0001c0001t0001g0168 a0001c0001t0001g0221 a0001c0002t0008g0031 others(15): Show |
19 | 101 | 0.1881 | -15 | c.-26 others(26): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2459 | chr16 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 88019573 | GGGCGTCC others(8): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03486.hp2 NA19043.hp1 |
a0002 | a0002c0019a0002c0028 | a0002c0019t0017a0002c0019t0018a0002c0028t0015 | a0002c0019t0017g0088 a0002c0019t0018g0087 a0002c0028t0015g0089 |
3 | 350 | 0.0086 | -15 | c.895 others(30): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88019589 | GGCGTGCG others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(110): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0093 a0001c0001t0001g0106 others(108): Show |
113 | 341 | 0.3314 | -15 | c.895 others(30): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34784367 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0344 | 1 | 92 | 0.0109 | -15 | c.183 others(32): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 14/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34825447 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(64): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0003a0001c0003t0005a0001c0004t0004others(1): Show | a0001c0002t0003g0001 a0001c0002t0003g0140 a0001c0002t0003g0141 others(64): Show |
67 | 167 | 0.4012 | -15 | c.536 others(30): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 4/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34836378 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01168.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 a0001c0001t0001g0300 |
2 | 247 | 0.0081 | -15 | c.393 others(34): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34844205 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(15): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0012 | a0001c0003t0005g0004 a0001c0003t0005g0005 a0001c0003t0005g0006 others(15): Show |
18 | 117 | 0.1538 | -15 | c.392 others(34): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73456937 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01192.hp1 HG02027.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 others(8): Show |
11 | 18 | 0.6111 | -15 | c.343 others(34): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 13/19 | chr7 | TogoVar |