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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDHA_chr5_213320_262082 | 259969 | AGCTCCGC others(53): Show |
A | downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 266 | 0.0038 | -60 | c.*35 others(71): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2888 | chr5 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3427827 | TTGTCTCT others(53): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01167.hp1 others(35): Show |
a0001a0002a0003others(17): Show | a0001c0002a0001c0008a0001c0011others(32): Show | a0001c0002t0040a0001c0008t0007a0001c0011t0039others(32): Show | a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0011t0039g0061 others(35): Show |
38 | 116 | 0.3276 | -60 | c.298 others(81): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3806279 | CTAGGATG others(53): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG02896.hp1 others(8): Show |
a0001a0009a0012others(3): Show | a0001c0011a0001c0031a0001c0060others(8): Show | a0001c0011t0039a0001c0031t0001a0001c0060t0041others(8): Show | a0001c0011t0039g0061 a0001c0031t0001g0018 a0001c0060t0041g0080 others(8): Show |
11 | 116 | 0.0948 | -60 | c.714 others(79): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4129309 | CCCCTGGA others(53): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01081.hp1 HG01099.hp2 others(13): Show |
a0001a0003a0006others(7): Show | a0001c0017a0001c0049a0003c0001others(8): Show | a0001c0017t0011a0001c0049t0036a0003c0001t0003others(12): Show | a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0049t0036g0109 others(13): Show |
16 | 116 | 0.1379 | -60 | c.394 others(77): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 26/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEC23A_chr14_39026919_39108235 | 39094315 | TATGCATA others(53): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02970.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(6): Show |
9 | 366 | 0.0246 | -60 | c.222 others(77): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094317 | TGCATATA others(53): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02647.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 others(11): Show |
14 | 366 | 0.0383 | -60 | c.222 others(77): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SELPLG_chr12_108616895_108638894 | 108623635 | GAGTGGTC others(53): Show |
G | conservative_inframe_deletion | MODERATE | HG01081.hp1 HG01168.hp2 HG01169.hp1 others(28): Show |
a0004a0012 | a0004c0004a0012c0010 | a0004c0004t0003a0004c0004t0006a0012c0010t0003 | a0004c0004t0003g0020 a0004c0004t0003g0058 a0004c0004t0003g0067 others(26): Show |
31 | 486 | 0.0638 | -60 | c.613 others(67): Show |
p.Ala others(13): Show |
SELPLG | ENSG00000110876.10 | transcript | ENST00000550948.2 | protein_coding | 2/2 | 832/2573 | 613/1239 | 205/412 | chr12 | TogoVar | |||
SEMA3A_chr7_83950777_84199789 | 84013535 | TCTTCCAA others(53): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0025a0001c0003t0008 | a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 others(2): Show |
5 | 276 | 0.0181 | -60 | c.810 others(75): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 7/16 | chr7 | TogoVar | |||||||
SENP3_chr17_7556919_7576969 | 7571852 | TATATATA others(53): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0159 | a0001c0001t0159g0050 | 1 | 446 | 0.0022 | -60 | c.*37 others(69): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 377 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPTIN5_chr22_19709503_19728319 | 19725888 | ACCGTGAG others(53): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp1 HG03453.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0031 |
4 | 384 | 0.0104 | -60 | c.*34 others(71): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 2570 | chr22 | TogoVar | |||||||
SEPTIN5_chr22_19709503_19728319 | 19725945 | AGGGCGGT others(53): Show |
A | downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 384 | 0.0026 | -60 | c.*34 others(71): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 2627 | chr22 | TogoVar | |||||||
SEPTIN5_chr22_19709503_19728319 | 19726764 | ACGCTGTG others(53): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp2 HG03195.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0064 |
5 | 384 | 0.0130 | -60 | c.*42 others(71): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 3446 | chr22 | TogoVar | |||||||
SEPTIN7_chr7_35796057_35912110 | 35838274 | TTCCTTCC others(53): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 346 | 0.0029 | -60 | c.169 others(77): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77335796 | GTATATGT others(53): Show |
G | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 150 | 0.0067 | -60 | c.76+ others(77): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77456598 | CGGCCAGT others(53): Show |
C | intron_variant | MODIFIER | HG02738.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0038 | a0001c0001t0001g0099 a0001c0001t0038g0118 |
2 | 150 | 0.0133 | -60 | c.722 others(79): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77335796 | GTATATGT others(53): Show |
G | intron_variant | MODIFIER | NA18969.hp1 NA18983.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0060 | a0001c0001t0001g0147 a0001c0001t0015g0148 a0001c0001t0060g0151 |
3 | 158 | 0.0190 | -60 | c.22+ others(77): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77456598 | CGGCCAGT others(53): Show |
C | intron_variant | MODIFIER | HG02738.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0048 | a0001c0001t0001g0004 a0001c0001t0048g0131 |
2 | 158 | 0.0127 | -60 | c.668 others(79): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158156855 | AATAAATA others(53): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02055.hp2 others(18): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0004others(3): Show | a0001c0001t0006a0001c0001t0010a0001c0003t0007others(5): Show | a0001c0001t0006g0007 a0001c0001t0006g0187 a0001c0001t0010g0342 others(15): Show |
21 | 366 | 0.0574 | -60 | c.91+ others(75): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 2/16 | chr6 | TogoVar | |||||||
SERPINB9_chr6_2882270_2908309 | 2907242 | GTGTGTGT others(53): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(66): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(36): Show | a0001c0001t0001g0017 a0001c0001t0001g0100 a0001c0001t0001g0103 others(57): Show |
69 | 462 | 0.1494 | -60 | c.-41 others(71): Show |
SERPINB9 | ENSG00000170542.6 | transcript | ENST00000380698.5 | protein_coding | 3934 | chr6 | TogoVar | |||||||
SERPINB9_chr6_2882270_2908309 | 2907550 | CGAGGTTG others(53): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(67): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(37): Show | a0001c0001t0001g0017 a0001c0001t0001g0100 a0001c0001t0001g0103 others(58): Show |
70 | 462 | 0.1515 | -60 | c.-44 others(71): Show |
SERPINB9 | ENSG00000170542.6 | transcript | ENST00000380698.5 | protein_coding | 4242 | chr6 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222556736 | CCCCATCC others(53): Show |
C | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0018 | 1 | 272 | 0.0037 | -60 | c.649 others(77): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3PXD2B_chr5_172328499_172459525 | 172368570 | TATGTTAT others(53): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0003a0001c0005a0001c0012 | a0001c0003t0005a0001c0005t0081a0001c0012t0023 | a0001c0003t0005g0017 a0001c0003t0005g0020 a0001c0005t0081g0216 others(2): Show |
5 | 280 | 0.0179 | -60 | c.427 others(77): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146064683 | AAAGAAAG others(53): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0207 a0001c0011t0001g0071 |
2 | 272 | 0.0074 | -60 | c.*19 others(71): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1392 | chr5 | TogoVar | |||||||
SH3TC1_chr4_8194290_8246103 | 8207115 | GTGTTCTG others(53): Show |
G | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0274 | 1 | 374 | 0.0027 | -60 | c.172 others(77): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 2/17 | chr4 | TogoVar | |||||||
SH3YL1_chr2_213144_269032 | 235753 | TCAGGGGA others(53): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0234 | 1 | 360 | 0.0028 | -60 | c.292 others(77): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
SH3YL1_chr2_213144_269032 | 235790 | TGGGCCAG others(53): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 360 | 0.0028 | -60 | c.292 others(77): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50707876 | TTTTTCTT others(53): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG03130.hp2 others(3): Show |
a0001a0003 | a0001c0003a0001c0004a0001c0011others(1): Show | a0001c0003t0003a0001c0003t0007a0001c0003t0090others(3): Show | a0001c0003t0003g0253 a0001c0003t0007g0065 a0001c0003t0090g0067 others(3): Show |
6 | 316 | 0.0190 | -60 | c.107 others(79): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 37918374 | CGTGTGTA others(53): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(53): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0049a0001c0001t0068a0001c0002t0022others(21): Show | a0001c0001t0049g0235 a0001c0001t0068g0234 a0001c0002t0022g0157 others(53): Show |
56 | 330 | 0.1697 | -60 | c.*13 others(71): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 6/6 | 1387 | chr9 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12943306 | TGTGTGTG others(53): Show |
T | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0065 | 1 | 214 | 0.0047 | -60 | c.691 others(79): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50618277 | CCCCTTCC others(53): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0010 | 1 | 175 | 0.0057 | -60 | c.295 others(79): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401380 | CCGGCCCC others(53): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 242 | 0.0041 | -60 | c.*44 others(71): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4335 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401384 | CCCCGCTC others(53): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp2 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 a0001c0001t0001g0187 |
2 | 242 | 0.0083 | -60 | c.*44 others(71): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4331 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401398 | GCCCCGCT others(53): Show |
G | downstream_gene_variant | MODIFIER | HG02056.hp2 HG02717.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0001 | a0001c0003t0001g0027 a0001c0003t0001g0030 a0001c0003t0001g0031 others(3): Show |
6 | 242 | 0.0248 | -60 | c.*44 others(71): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4317 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401748 | CACCCCCG others(53): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 242 | 0.0041 | -60 | c.*40 others(71): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3967 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401781 | CCCCGACC others(53): Show |
C | downstream_gene_variant | MODIFIER | NA20752.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0095 | 1 | 242 | 0.0041 | -60 | c.*40 others(71): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3934 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402681 | CGACCCGC others(53): Show |
C | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0226 | 1 | 242 | 0.0041 | -60 | c.*31 others(71): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3034 | chr11 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412583 | GAAAGAAA others(53): Show |
G | intron_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0273 | 1 | 320 | 0.0031 | -60 | c.116 others(79): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SKP2_chr5_36147111_36189319 | 36174823 | GAAGAACA others(53): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0102 | 1 | 402 | 0.0025 | -60 | c.902 others(77): Show |
SKP2 | ENSG00000145604.17 | transcript | ENST00000274255.11 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
SLAMF8_chr1_159821873_159842492 | 159840961 | AAGGCAAG others(53): Show |
A | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 476 | 0.0021 | -60 | c.*57 others(71): Show |
SLAMF8 | ENSG00000158714.11 | transcript | ENST00000289707.10 | protein_coding | 3470 | chr1 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86842786 | TTTTCTTT others(53): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01081.hp2 others(30): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 others(28): Show |
33 | 350 | 0.0943 | -60 | c.377 others(77): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48240012 | TATATATA others(53): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024 | 1 | 266 | 0.0038 | -60 | c.121 others(79): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48240032 | TATATATA others(53): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02055.hp1 HG02145.hp2 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0005 a0001c0001t0002g0006 a0001c0001t0004g0156 others(1): Show |
4 | 266 | 0.0150 | -60 | c.121 others(79): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56916237 | TCCAGTCT others(53): Show |
T | downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0183 | 1 | 420 | 0.0024 | -60 | c.*28 others(71): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 388 | chr16 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1096735 | GGAAGGGA others(53): Show |
G | intron_variant | MODIFIER | HG02486.hp2 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0017 | a0001c0003t0003g0019 a0001c0003t0017g0018 |
2 | 118 | 0.0170 | -60 | c.125 others(77): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45510951 | AACACCCC others(53): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0228 | 1 | 318 | 0.0031 | -60 | c.*46 others(71): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 1613 | chr21 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45542171 | GGACCCCA others(53): Show |
G | intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0029 | 1 | 318 | 0.0031 | -60 | c.-50 others(75): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 1/5 | chr21 | TogoVar | |||||||
SLC25A43_chrX_119394336_119459478 | 119457080 | AAGAAAGA others(53): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0138 | 1 | 314 | 0.0032 | -60 | c.*40 others(71): Show |
SLC25A43 | ENSG00000077713.19 | transcript | ENST00000217909.8 | protein_coding | 2603 | chrX | TogoVar | |||||||
SLC28A1_chr15_84879662_84950798 | 84889661 | TTTCCTTC others(53): Show |
T | intron_variant | MODIFIER | HG02970.hp2 | a0020 | a0020c0059 | a0020c0059t0001 | a0020c0059t0001g0008 | 1 | 396 | 0.0025 | -60 | c.186 others(75): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC28A1_chr15_84879662_84950798 | 84889677 | TTTCCTTC others(53): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00735.hp1 others(11): Show |
a0002a0003a0004others(2): Show | a0002c0001a0003c0005a0003c0007others(4): Show | a0002c0001t0001a0003c0005t0001a0003c0005t0002others(5): Show | a0002c0001t0001g0338 a0002c0001t0001g0339 a0002c0001t0001g0340 others(11): Show |
14 | 396 | 0.0354 | -60 | c.186 others(75): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC2A12_chr6_133982581_134057624 | 134032408 | ATATATAT others(53): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0142 | 1 | 338 | 0.0030 | -60 | c.104 others(77): Show |
SLC2A12 | ENSG00000146411.6 | transcript | ENST00000275230.6 | protein_coding | 1/4 | chr6 | TogoVar |