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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAXO1_chr9_18922650_19038209 | 18975203 | CTGCAGGC others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(242): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0006a0001c0027others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(64): Show | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0001g0244others(239): Show | 245 | 364 | 0.6731 | -24 | c.39- others(41): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
SBF1_chr22_50440000_50480035 | 50452540 | GAAACCCC others(17): Show |
G | intron_variant | MODIFIER | NA18949.hp1 | a0016 | a0016c0053 | a0016c0053t0138 | a0016c0053t0138g0271 | 1 | 402 | 0.0025 | -24 | c.504 others(43): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 36/40 | chr22 | TogoVar | ||||||
SBF2_chr11_9773668_10299219 | 10179363 | AAACAAAA others(17): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01192.hp2 others(10): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0193a0001c0001t0001g0211a0001c0001t0002g0221others(10): Show | 13 | 224 | 0.0580 | -24 | c.141 others(43): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | ||||||
SBK1_chr16_28287525_28328849 | 28320769 | TTGCCCGT others(17): Show |
T | disruptive_inframe_deletion | MODERATE | HG00621.hp1 NA18951.hp1 NA18962.hp2 |
a0002 | a0002c0005a0002c0006 | a0002c0005t0012a0002c0005t0014a0002c0006t0013 | a0002c0005t0012g0277a0002c0005t0014g0186a0002c0006t0013g0268 | 3 | 384 | 0.0078 | -24 | c.114 others(33): Show |
p.Val others(13): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 1923/4986 | 1140/1275 | 380/424 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
SBK1_chr16_28287525_28328849 | 28322917 | GCGCTCTC others(17): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0030a0001c0001t0054others(7): Show | a0001c0001t0006g0001a0001c0001t0006g0022a0001c0001t0006g0023others(16): Show | 19 | 384 | 0.0495 | -24 | c.*19 others(35): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 1998 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
SBK1_chr16_28287525_28328849 | 28322919 | GCTCTCTC others(17): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02451.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0141a0001c0001t0166 | a0001c0001t0141g0017a0001c0001t0166g0289 | 2 | 384 | 0.0052 | -24 | c.*20 others(35): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 2010 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
SBK2_chr19_55523611_55542133 | 55527810 | ACACACAT others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00544.hp1 others(98): Show |
a0000a0001a0002others(3): Show | a0000c0003a0001c0001a0001c0004others(6): Show | a0000c0003t0003a0000c0003t0008a0000c0003t0014others(24): Show | a0000c0003t0003g0128a0000c0003t0003g0255a0000c0003t0008g0262others(77): Show | 101 | 434 | 0.2327 | -24 | c.*18 others(35): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 800 | chr19 | TogoVar | ||||||
SBK2_chr19_55523611_55542133 | 55533659 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(104): Show |
a0000a0001a0003others(2): Show | a0000c0003a0000c0017a0001c0001others(6): Show | a0000c0003t0001a0000c0003t0002a0000c0003t0018others(18): Show | a0000c0003t0001g0224a0000c0003t0001g0235a0000c0003t0001g0246others(61): Show | 107 | 434 | 0.2465 | -24 | c.254 others(41): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 2/3 | chr19 | TogoVar | ||||||
SBK2_chr19_55523611_55542133 | 55539894 | TGTGCACA others(17): Show |
T | upstream_gene_variant | MODIFIER | HG03669.hp1 | a0000 | a0000c0003 | a0000c0003t0001 | a0000c0003t0001g0224 | 1 | 434 | 0.0023 | -24 | c.-28 others(35): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 2762 | chr19 | TogoVar | ||||||
SBNO1_chr12_123284109_123369847 | 123338888 | ACCCCGAC others(17): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02055.hp1 others(22): Show |
a0001 | a0001c0005a0001c0008a0001c0012 | a0001c0005t0006a0001c0005t0012a0001c0005t0016others(9): Show | a0001c0005t0006g0104a0001c0005t0006g0105a0001c0005t0006g0106others(22): Show | 25 | 260 | 0.0962 | -24 | c.651 others(41): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 5/31 | chr12 | TogoVar | ||||||
SBSN_chr19_35518367_35533311 | 35520374 | ACACATAT others(17): Show |
A | downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 450 | 0.0022 | -24 | c.*31 others(35): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 2992 | chr19 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154784120 | GATATATA others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(76): Show |
a0001a0002a0006 | a0001c0001a0001c0006a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0065a0001c0001t0001g0085a0001c0001t0001g0089others(76): Show | 79 | 282 | 0.2801 | -24 | c.160 others(41): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SCAF8_chr6_154728416_154839221 | 154794778 | GGGGTGTG others(17): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 282 | 0.0036 | -24 | c.476 others(39): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SCAF8_chr6_154728416_154839221 | 154794780 | GGTGTGTG others(17): Show |
G | intron_variant | MODIFIER | NA20752.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0255 | 1 | 282 | 0.0036 | -24 | c.476 others(39): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SCAI_chr9_124937608_125148528 | 125004734 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | NA18978.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0062 | a0001c0001t0002g0004a0001c0001t0062g0129 | 2 | 306 | 0.0065 | -24 | c.862 others(41): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | ||||||
SCAI_chr9_124937608_125148528 | 125004759 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0113 | 1 | 306 | 0.0033 | -24 | c.862 others(41): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78423012 | GCGCGCAC others(17): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 332 | 0.0030 | -24 | c.632 others(41): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SCAMP2_chr15_74838730_74878365 | 74865950 | CGAAGGAA others(17): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG03669.hp1 HG03834.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0295a0001c0001t0001g0342others(15): Show | 19 | 386 | 0.0492 | -24 | c.57+ others(39): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
SCAMP5_chr15_74990563_75026495 | 74990994 | CTCTTTCT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0220 | 2 | 370 | 0.0054 | -24 | c.-47 others(35): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4568 | chr15 | TogoVar | ||||||
SCAPER_chr15_76342904_76910340 | 76637732 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0175 | 1 | 312 | 0.0032 | -24 | c.264 others(45): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | ||||||
SCAPER_chr15_76342904_76910340 | 76637734 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0174 | 1 | 312 | 0.0032 | -24 | c.264 others(45): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | ||||||
SCAPER_chr15_76342904_76910340 | 76637742 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02109.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0167a0001c0010t0001g0168 | 2 | 312 | 0.0064 | -24 | c.264 others(45): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | ||||||
SCAPER_chr15_76342904_76910340 | 76873331 | AAGGCAGG others(17): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02135.hp1 HG02630.hp1 others(11): Show |
a0002a0003a0011 | a0002c0002a0003c0003a0011c0024 | a0002c0002t0002a0003c0003t0002a0003c0003t0007others(1): Show | a0002c0002t0002g0194a0002c0002t0002g0228a0002c0002t0002g0233others(11): Show | 14 | 312 | 0.0449 | -24 | c.6+1 others(39): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 2/31 | chr15 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27865577 | TTATATAT others(17): Show |
T | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02055.hp2 HG03209.hp1 others(1): Show |
a0002a0003 | a0002c0016a0003c0011a0003c0014 | a0002c0016t0009a0003c0011t0049a0003c0014t0031others(1): Show | a0002c0016t0009g0066a0003c0011t0049g0014a0003c0014t0031g0021others(1): Show | 4 | 314 | 0.0127 | -24 | c.*63 others(35): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4305 | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27865775 | ATATATAT others(17): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp1 HG06807.hp1 |
a0005 | a0005c0019 | a0005c0019t0025 | a0005c0019t0025g0191a0005c0019t0025g0192 | 2 | 314 | 0.0064 | -24 | c.*61 others(35): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4107 | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27875194 | CCTTCACT others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00642.hp2 others(41): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(14): Show | a0001c0001t0002g0003a0001c0001t0002g0058a0001c0001t0002g0072others(41): Show | 44 | 314 | 0.1401 | -24 | c.135 others(43): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
SCCPDH_chr1_246719409_246773137 | 246722502 | AATATATA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03579.hp2 NA19043.hp1 |
a0001a0004 | a0001c0005a0004c0006 | a0001c0005t0013a0004c0006t0001 | a0001c0005t0013g0105a0004c0006t0001g0252 | 2 | 410 | 0.0049 | -24 | c.-19 others(35): Show |
SCCPDH | ENSG00000143653.10 | transcript | ENST00000366510.4 | protein_coding | 1906 | chr1 | TogoVar | ||||||
SCD5_chr4_82624539_82803796 | 82712243 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | NA18962.hp2 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041a0001c0001t0002g0127 | 2 | 210 | 0.0095 | -24 | c.233 others(41): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30703940 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01243.hp1 HG01891.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0002c0002t0001a0003c0005t0002 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(18): Show | 21 | 328 | 0.0640 | -24 | c.149 others(43): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SCFD2_chr4_52867982_53371061 | 52875802 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02735.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0081a0001c0001t0002g0072a0001c0001t0008g0111 | 3 | 162 | 0.0185 | -24 | c.196 others(43): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 53284138 | CATGTAAT others(17): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 162 | 0.0062 | -24 | c.113 others(45): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 3/8 | chr4 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51709683 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 402 | 0.0025 | -24 | c.120 others(43): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SCG5_chr15_32636710_32702092 | 32663032 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0174a0001c0001t0001g0187a0001c0001t0001g0205others(4): Show | 7 | 415 | 0.0169 | -24 | c.227 others(43): Show |
SCG5 | ENSG00000166922.9 | transcript | ENST00000300175.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SCGB1C2_chr17_132569_144067 | 141110 | CTGGTGAG others(17): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG03098.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0009 | 4 | 402 | 0.0100 | -24 | c.*21 others(35): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2044 | chr17 | TogoVar | ||||||
SCGB1C2_chr17_132569_144067 | 141265 | CTGGTGAG others(17): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0009 | 1 | 402 | 0.0025 | -24 | c.*23 others(35): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2199 | chr17 | TogoVar | ||||||
SCGB1C2_chr17_132569_144067 | 141508 | ACATGGGG others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01070.hp2 others(44): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0009a0002c0002t0001g0003a0002c0002t0001g0013others(1): Show | 47 | 402 | 0.1169 | -24 | c.*25 others(35): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2442 | chr17 | TogoVar | ||||||
SCGB1C2_chr17_132569_144067 | 141882 | TCTGACCC others(17): Show |
T | downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 402 | 0.0025 | -24 | c.*29 others(35): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2816 | chr17 | TogoVar | ||||||
SCGB2A1_chr11_62203673_62218943 | 62206840 | AAAATAAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02056.hp2 HG02486.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0065a0001c0001t0001g0215others(3): Show | 16 | 442 | 0.0362 | -24 | c.-18 others(35): Show |
SCGB2A1 | ENSG00000124939.6 | transcript | ENST00000244930.6 | protein_coding | 1832 | chr11 | TogoVar | ||||||
SCGB2A1_chr11_62203673_62218943 | 62209635 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | NA18942.hp1 NA18959.hp1 NA18962.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008a0001c0001t0002g0117a0001c0001t0002g0118 | 11 | 442 | 0.0249 | -24 | c.56- others(37): Show |
SCGB2A1 | ENSG00000124939.6 | transcript | ENST00000244930.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SCGB2A1_chr11_62203673_62218943 | 62215478 | GAGCCTAT others(17): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0032a0001c0001t0001g0043others(2): Show | 8 | 442 | 0.0181 | -24 | c.*17 others(35): Show |
SCGB2A1 | ENSG00000124939.6 | transcript | ENST00000244930.6 | protein_coding | 1536 | chr11 | TogoVar | ||||||
SCGB2A2_chr11_62265158_62278160 | 62272976 | GTCTTTGT others(17): Show |
G | stop_lost others(1): Show |
HIGH | HG03704.hp2 | a0000 | a0000c0005 | a0000c0005t0003 | a0000c0005t0003g0062 | 1 | 390 | 0.0026 | -24 | c.265 others(30): Show |
p.Leu others(11): Show |
SCGB2A2 | ENSG00000110484.7 | transcript | ENST00000227918.3 | protein_coding | 3/3 | 324/506 | 265/282 | 89/93 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
SCGB2B2_chr19_34585644_34682159 | 34645511 | CACAGACA others(17): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG02129.hp2 HG02165.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0048a0001c0001t0121a0001c0001t0122others(3): Show | a0001c0001t0048g0337a0001c0001t0048g0339a0001c0001t0121g0330others(4): Show | 7 | 370 | 0.0189 | -24 | c.-20 others(47): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
SCGB2B2_chr19_34585644_34682159 | 34645525 | GACACACA others(17): Show |
G | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0088 | 1 | 370 | 0.0027 | -24 | c.-20 others(47): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
SCGN_chr6_25647215_25706783 | 25658002 | CCTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01109.hp1 HG01516.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0004g0319a0001c0001t0004g0320a0001c0001t0005g0257others(8): Show | 13 | 368 | 0.0353 | -24 | c.154 others(41): Show |
SCGN | ENSG00000079689.15 | transcript | ENST00000377961.3 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SCGN_chr6_25647215_25706783 | 25658003 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0167 | 3 | 368 | 0.0082 | -24 | c.154 others(41): Show |
SCGN | ENSG00000079689.15 | transcript | ENST00000377961.3 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SCHIP1_chr3_159268244_159902359 | 159553967 | CGTGTGTG others(17): Show |
C | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 100 | 0.0100 | -24 | c.64- others(43): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SCHIP1_chr3_159268244_159902359 | 159694537 | CAAGAAAG others(17): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0095others(1): Show | 4 | 100 | 0.0400 | -24 | c.64- others(41): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SCHIP1_chr3_159268244_159902359 | 159704884 | CTTTCTTT others(17): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG02976.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0041a0001c0001t0001g0044a0001c0001t0001g0046others(4): Show | 7 | 100 | 0.0700 | -24 | c.64- others(41): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SCHIP1_chr3_159268244_159902359 | 159882425 | TAAAATCA others(17): Show |
T | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092 | 1 | 100 | 0.0100 | -24 | c.879 others(41): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SCMH1_chr1_41022202_41247306 | 41044430 | AAGGCAGG others(17): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 304 | 0.0033 | -24 | c.149 others(43): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 12/15 | chr1 | TogoVar |