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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V0A4_chr7_138701294_138803196 | 138746005 | T | TATATATT others(44): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(193): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0007others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0020a0001c0001t0001g0024a0001c0001t0001g0028others(193): Show | 196 | 376 | 0.5213 | 51 | c.132 others(68): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138746005 | T | TATATATT others(44): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 376 | 0.0027 | 51 | c.132 others(68): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79225929 | G | GTCTGAGT others(44): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03209.hp2 |
a0002a0005 | a0002c0005a0005c0016 | a0002c0005t0001a0005c0016t0001 | a0002c0005t0001g0194a0005c0016t0001g0171 | 2 | 298 | 0.0067 | 51 | c.110 others(72): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATXN3_chr14_92053552_92111582 | 92071009 | C | CGCTGCTG others(44): Show |
conservative_inframe_insertion | MODERATE | HG00438.hp2 HG02080.hp2 NA19010.hp2 others(1): Show |
a0021 | a0021c0023 | a0021c0023t0002a0021c0023t0004a0021c0023t0033others(1): Show | a0021c0023t0002g0079a0021c0023t0004g0048a0021c0023t0033g0162others(1): Show | 4 | 402 | 0.0100 | 51 | c.916 others(58): Show |
p.Gly others(63): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 946/6884 | 916/1086 | 306/361 | chr14 | TogoVar | ||
ATXN3_chr14_92053552_92111582 | 92071010 | C | CCTGCTGC others(44): Show |
conservative_inframe_insertion | MODERATE | HG02818.hp2 HG03471.hp2 HG06807.hp2 others(2): Show |
a0024a0043 | a0024c0028a0043c0049 | a0024c0028t0023a0024c0028t0037a0024c0028t0048others(1): Show | a0024c0028t0023g0004a0024c0028t0037g0026a0024c0028t0048g0380others(1): Show | 5 | 402 | 0.0124 | 51 | c.915 others(58): Show |
p.Gln others(64): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | ||
AUTS2_chr7_69593475_70798506 | 69614367 | T | TCTTTCTT others(44): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 76 | 0.0132 | 51 | c.309 others(70): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70531133 | T | TGAGAAAT others(44): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00597.hp1 others(43): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0071others(43): Show | 46 | 76 | 0.6053 | 51 | c.690 others(70): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32579588 | T | TATAATAT others(44): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0149 | 1 | 330 | 0.0030 | 51 | c.168 others(68): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 285949 | C | CCCCGCGG others(44): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0187 | 1 | 378 | 0.0027 | 51 | c.*21 others(62): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1490 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 321213 | C | CTTCCATA others(44): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01099.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0189a0001c0001t0001g0190a0001c0001t0001g0192others(24): Show | 27 | 378 | 0.0714 | 51 | c.879 others(68): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167563255 | C | CGGGGTGG others(44): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01255.hp1 HG01496.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0062a0001c0001t0001g0076a0001c0001t0002g0094others(15): Show | 18 | 118 | 0.1525 | 51 | c.-41 others(72): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167563264 | T | TGGCCGGA others(44): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01891.hp2 HG02257.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0098a0001c0001t0002g0001a0001c0001t0002g0010others(7): Show | 10 | 118 | 0.0848 | 51 | c.-41 others(72): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167563264 | T | TGGCCGGA others(44): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18968.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0078a0001c0001t0004g0014a0001c0001t0020g0063 | 3 | 118 | 0.0254 | 51 | c.-41 others(72): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GNTL1_chr17_82937149_83056770 | 83002886 | C | CTCCCGCC others(44): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0148 | 1 | 266 | 0.0038 | 51 | c.459 others(68): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003187 | C | CTCCCGCC others(44): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0035 | 1 | 266 | 0.0038 | 51 | c.459 others(68): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83052555 | G | GGAGGTCC others(44): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(69): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0011others(7): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(19): Show | a0001c0001t0002g0133a0001c0002t0001g0089a0001c0002t0001g0114others(69): Show | 72 | 266 | 0.2707 | 51 | c.-80 others(60): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 786 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83052795 | G | GCCCTCAC others(44): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 NA21309.hp1 |
a0001a0003 | a0001c0011a0003c0030 | a0001c0011t0030a0003c0030t0011 | a0001c0011t0030g0143a0003c0030t0011g0140 | 2 | 266 | 0.0075 | 51 | c.-10 others(62): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1026 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83052809 | G | GTGAGGTC others(44): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 NA18906.hp1 NA19010.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0001t0014a0001c0007t0005 | a0001c0001t0004g0247a0001c0001t0014g0248a0001c0007t0005g0254 | 3 | 266 | 0.0113 | 51 | c.-10 others(62): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1040 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83052920 | C | CCCAGGAG others(44): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01069.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0167others(22): Show | 25 | 266 | 0.0940 | 51 | c.-11 others(62): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1151 | chr17 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 545640 | A | ATGGGGAG others(44): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0016 | a0016c0032 | a0016c0032t0002 | a0016c0032t0002g0006 | 1 | 394 | 0.0025 | 51 | c.639 others(66): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 545936 | A | AGAGGAGT others(44): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0021 | a0021c0040 | a0021c0040t0001 | a0021c0040t0001g0268 | 1 | 394 | 0.0025 | 51 | c.639 others(66): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 546034 | G | GGTGAGAG others(44): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0065 | 1 | 394 | 0.0025 | 51 | c.639 others(66): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 364641 | C | CCACCTGG others(44): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(93): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0027a0001c0001t0001g0029others(93): Show | 96 | 184 | 0.5217 | 51 | c.-51 others(62): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 4857 | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 364721 | C | CGACAGGT others(44): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 184 | 0.0054 | 51 | c.-50 others(62): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 4777 | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 369409 | T | TCCCGCGC others(44): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0168 | 1 | 184 | 0.0054 | 51 | c.-39 others(60): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 89 | chr11 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28026775 | A | AAAAAAAT others(44): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0122a0001c0001t0003g0121 | 2 | 158 | 0.0127 | 51 | c.495 others(68): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28112197 | C | CCCTTCCT others(44): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 158 | 0.0063 | 51 | c.571 others(70): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BAG3_chr10_119646380_119682819 | 119675879 | C | CCCTTCCT others(44): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0057 | 1 | 420 | 0.0024 | 51 | c.910 others(66): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BANP_chr16_87946434_88082316 | 88019583 | G | GGGGCGGG others(44): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0048 | 1 | 352 | 0.0028 | 51 | c.895 others(66): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107591656 | A | ACACACAC others(44): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 398 | 0.0025 | 51 | c.194 others(68): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAT1_chr12_24805024_24954101 | 24837146 | A | AAGGAAGA others(44): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0271 | 1 | 322 | 0.0031 | 51 | c.818 others(66): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467071 | A | AGTGGTGG others(44): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0221 | 1 | 262 | 0.0038 | 51 | c.487 others(68): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(44): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0075 | 1 | 458 | 0.0022 | 51 | c.-43 others(62): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | ||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(44): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 NA19055.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0057a0002c0002t0002g0011 | 2 | 458 | 0.0044 | 51 | c.-43 others(62): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | ||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(44): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 | 1 | 458 | 0.0022 | 51 | c.-43 others(62): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | ||||||
BCL2L10_chr15_52104263_52117775 | 52117103 | T | TATATATA others(44): Show |
upstream_gene_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0100 | 1 | 458 | 0.0022 | 51 | c.-43 others(62): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4329 | chr15 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197517810 | C | CCCCCTTC others(44): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01255.hp2 others(37): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0011others(31): Show | a0001c0001t0007g0002a0001c0001t0007g0107a0001c0001t0007g0111others(36): Show | 40 | 319 | 0.1254 | 51 | c.410 others(68): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100546333 | T | TGCCCCGC others(44): Show |
intron_variant | MODIFIER | HG00140.hp2 NA19087.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160a0001c0002t0001g0211 | 2 | 326 | 0.0061 | 51 | c.233 others(66): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 3/6 | chr14 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100546339 | A | ACCCCGGC others(44): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG01106.hp2 others(16): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(2): Show | a0001c0002t0001g0018a0001c0002t0001g0083a0001c0002t0001g0095others(16): Show | 19 | 326 | 0.0583 | 51 | c.233 others(66): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 3/6 | chr14 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42826163 | T | TAGTACAC others(44): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0003g0137others(2): Show | 5 | 270 | 0.0185 | 51 | c.160 others(68): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BIN1_chr2_127043032_127112154 | 127101094 | C | CAGCAGAG others(44): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 344 | 0.0029 | 51 | c.84+ others(66): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127105467 | C | CCCTCCTC others(44): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02683.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001 | a0001c0002t0001g0271a0001c0007t0001g0270 | 2 | 344 | 0.0058 | 51 | c.84+ others(66): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276304 | A | ATCTCCCT others(44): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 378 | 0.0027 | 51 | c.398 others(66): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276317 | G | GTCTCCCT others(44): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02970.hp2 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0042 | 2 | 378 | 0.0053 | 51 | c.398 others(66): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276336 | G | GTCTCCCT others(44): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0167 | 2 | 378 | 0.0053 | 51 | c.398 others(66): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276388 | G | GTCTCCCT others(44): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0226 | 1 | 378 | 0.0027 | 51 | c.398 others(66): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13288394 | T | TTTTCTTT others(44): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0185a0001c0001t0001g0187a0001c0001t0001g0189others(14): Show | 17 | 314 | 0.0541 | 51 | c.-26 others(72): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13288399 | T | TTTCTTTC others(44): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0016others(1): Show | 4 | 314 | 0.0127 | 51 | c.-26 others(72): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86865229 | C | CATTCCAC others(44): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01169.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0023a0001c0002t0035others(1): Show | a0001c0002t0006g0025a0001c0002t0006g0125a0001c0002t0006g0126others(10): Show | 13 | 278 | 0.0468 | 51 | c.-15 others(72): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BPIFB1_chr20_33278214_33314871 | 33295662 | G | GAGAAAGA others(44): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0262 | 1 | 388 | 0.0026 | 51 | c.598 others(68): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |