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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAMD11_chr1_918923_949574 | 940296 | G | GCCCCC | intron_variant | MODIFIER | HG01123.hp2 HG01978.hp2 HG02148.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0052a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0052t0014others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0083 a0001c0001t0001g0092 others(12): Show |
17 | 434 | 0.0392 | 5 | c.119 others(22): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD12_chr8_118372984_118626963 | 118393230 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(112): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0013 others(112): Show |
115 | 188 | 0.6117 | 5 | c.323 others(24): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118397791 | A | AAATTT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(112): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0013 others(112): Show |
115 | 188 | 0.6117 | 5 | c.323 others(24): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118453468 | C | CAGTTT | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0027 a0001c0001t0002g0151 a0001c0001t0002g0153 others(7): Show |
10 | 188 | 0.0532 | 5 | c.193 others(24): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118500067 | C | CTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG02257.hp2 HG02895.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0124 a0001c0001t0002g0143 a0001c0001t0003g0165 others(5): Show |
8 | 188 | 0.0426 | 5 | c.193 others(24): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118507991 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0061 others(38): Show |
41 | 188 | 0.2181 | 5 | c.193 others(24): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118509755 | G | GTTTAA | intron_variant | MODIFIER | HG00597.hp1 HG01071.hp1 HG01243.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0005 a0001c0001t0002g0041 a0001c0001t0002g0177 others(10): Show |
13 | 188 | 0.0692 | 5 | c.193 others(24): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118515185 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0013 a0001c0001t0002g0056 a0001c0001t0002g0067 others(21): Show |
24 | 188 | 0.1277 | 5 | c.192 others(24): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD15_chr14_77372379_77397163 | 77389496 | A | ATTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG02071.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0022 a0003c0003t0003g0034 a0003c0003t0003g0097 others(3): Show |
9 | 314 | 0.0287 | 5 | c.178 others(24): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54684617 | C | CCCCCG | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG00741.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0044 a0001c0001t0002g0148 a0001c0001t0002g0163 others(13): Show |
16 | 262 | 0.0611 | 5 | c.197 others(24): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54757425 | G | GTGTTT | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0262 a0001c0001t0003g0230 a0001c0001t0003g0252 others(11): Show |
14 | 262 | 0.0534 | 5 | c.117 others(24): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD7_chr3_169906572_169944175 | 169935499 | T | TTTTTG | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01192.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0073 a0001c0001t0004g0017 a0001c0001t0004g0027 others(12): Show |
19 | 416 | 0.0457 | 5 | c.104 others(22): Show |
SAMD7 | ENSG00000187033.9 | transcript | ENST00000335556.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SAMD8_chr10_75106656_75187123 | 75109818 | T | TTTTTG | upstream_gene_variant | MODIFIER | HG01069.hp2 HG02451.hp2 HG02622.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0168 a0001c0001t0005g0010 a0001c0001t0005g0287 others(8): Show |
12 | 324 | 0.0370 | 5 | c.-19 others(16): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 1837 | chr10 | TogoVar | |||||||
SAMD9_chr7_93094518_93122979 | 93096894 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG01891.hp2 others(6): Show |
a0002a0006 | a0002c0003a0006c0008a0006c0014 | a0002c0003t0002a0006c0008t0001a0006c0014t0008 | a0002c0003t0002g0062 a0006c0008t0001g0013 a0006c0008t0001g0102 others(2): Show |
9 | 392 | 0.0230 | 5 | c.*44 others(16): Show |
SAMD9 | ENSG00000205413.8 | transcript | ENST00000379958.3 | protein_coding | 2623 | chr7 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36896884 | T | TGGACA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(70): Show | a0001c0001t0002g0335 a0001c0001t0003g0131 a0001c0001t0003g0154 others(228): Show |
231 | 340 | 0.6794 | 5 | c.174 others(22): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 15/15 | chr20 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36912889 | G | GTTTTT | intron_variant | MODIFIER | HG01361.hp1 HG02055.hp1 HG02109.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0059 a0001c0001t0001g0086 a0001c0001t0001g0119 others(11): Show |
14 | 340 | 0.0412 | 5 | c.106 others(22): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 9/15 | chr20 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36939075 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0051 others(51): Show |
54 | 340 | 0.1588 | 5 | c.348 others(22): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 3/15 | chr20 | TogoVar | |||||||
SAMM50_chr22_43950442_44001529 | 43958476 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(40): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0004 | a0001c0002t0001g0281 a0001c0002t0002g0024 a0001c0002t0002g0025 others(37): Show |
43 | 378 | 0.1138 | 5 | c.21+ others(20): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SAMM50_chr22_43950442_44001529 | 43962881 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00639.hp1 others(39): Show |
a0001a0002 | a0001c0002a0001c0008a0002c0001others(3): Show | a0001c0002t0001a0001c0008t0001a0002c0001t0001others(3): Show | a0001c0002t0001g0188 a0001c0008t0001g0178 a0001c0008t0001g0181 others(37): Show |
42 | 378 | 0.1111 | 5 | c.22- others(18): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SAMM50_chr22_43950442_44001529 | 43978432 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(206): Show |
a0001a0002a0009 | a0001c0002a0001c0004a0001c0006others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(9): Show | a0001c0002t0001g0022 a0001c0002t0001g0166 a0001c0002t0001g0189 others(186): Show |
209 | 378 | 0.5529 | 5 | c.936 others(20): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SAMM50_chr22_43950442_44001529 | 43999834 | G | GAAAAA | downstream_gene_variant | MODIFIER | HG00544.hp1 HG02056.hp1 HG02056.hp2 others(6): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001 | a0001c0002t0002g0023 a0001c0002t0002g0184 a0001c0002t0002g0270 others(6): Show |
9 | 378 | 0.0238 | 5 | c.*34 others(16): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 3306 | chr22 | TogoVar | |||||||
SAMSN1_chr21_14480228_14551315 | 14509139 | A | AAAAAG | intron_variant | MODIFIER | HG00621.hp1 HG02056.hp2 HG02602.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0077 others(24): Show |
29 | 408 | 0.0711 | 5 | c.561 others(22): Show |
SAMSN1 | ENSG00000155307.19 | transcript | ENST00000400566.6 | protein_coding | 5/7 | chr21 | TogoVar | |||||||
SAMSN1_chr21_14480228_14551315 | 14509158 | A | AGAAAG | intron_variant | MODIFIER | HG01975.hp2 HG02155.hp2 NA18612.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0176 a0001c0001t0001g0195 a0001c0001t0001g0206 others(14): Show |
17 | 408 | 0.0417 | 5 | c.561 others(22): Show |
SAMSN1 | ENSG00000155307.19 | transcript | ENST00000400566.6 | protein_coding | 5/7 | chr21 | TogoVar | |||||||
SAMSN1_chr21_14480228_14551315 | 14530333 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(168): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(155): Show |
171 | 408 | 0.4191 | 5 | c.58- others(20): Show |
SAMSN1 | ENSG00000155307.19 | transcript | ENST00000400566.6 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
SAP130_chr2_127936222_128033059 | 128003957 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG02055.hp1 HG02897.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0018 | a0001c0001t0001a0003c0018t0001 | a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0138 others(4): Show |
7 | 350 | 0.0200 | 5 | c.870 others(22): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | TogoVar | |||||||
SAP18_chr13_21135119_21154097 | 21153231 | A | AGACGT | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01175.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(1): Show | a0001c0002t0002g0078 a0001c0002t0004g0009 a0001c0002t0004g0014 others(4): Show |
14 | 426 | 0.0329 | 5 | c.*58 others(16): Show |
SAP18 | ENSG00000150459.13 | transcript | ENST00000382533.9 | protein_coding | 4135 | chr13 | TogoVar | |||||||
SAP30BP_chr17_75662338_75713059 | 75687917 | G | GTGTGT | intron_variant | MODIFIER | HG00280.hp2 NA18995.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 |
3 | 370 | 0.0081 | 5 | c.265 others(22): Show |
SAP30BP | ENSG00000161526.15 | transcript | ENST00000584667.6 | protein_coding | 3/10 | chr17 | TogoVar | |||||||
SAPCD2_chr9_137057127_137075557 | 137067774 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00639.hp1 others(59): Show |
a0001a0008a0011 | a0001c0001a0001c0012a0008c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0096 a0001c0001t0002g0002 a0001c0001t0002g0007 others(7): Show |
62 | 414 | 0.1498 | 5 | c.572 others(22): Show |
SAPCD2 | ENSG00000186193.9 | transcript | ENST00000409687.5 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
SAR1A_chr10_70142289_70175514 | 70149547 | A | ATTTTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0027others(8): Show | a0001c0001t0003g0002 a0001c0001t0003g0040 a0001c0001t0003g0071 others(25): Show |
48 | 420 | 0.1143 | 5 | c.*29 others(16): Show |
SAR1A | ENSG00000079332.16 | transcript | ENST00000373241.9 | protein_coding | 7/7 | 2928 | chr10 | TogoVar | ||||||
SAR1A_chr10_70142289_70175514 | 70162421 | G | GGGAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(169): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(65): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 others(129): Show |
172 | 420 | 0.4095 | 5 | c.-16 others(20): Show |
SAR1A | ENSG00000079332.16 | transcript | ENST00000373241.9 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134612641 | T | TAAAAA | intron_variant | MODIFIER | HG01928.hp1 HG02004.hp1 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0003g0168 others(5): Show |
8 | 322 | 0.0248 | 5 | c.244 others(18): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 4/6 | chr5 | TogoVar | |||||||
SARAF_chr8_30058003_30088064 | 30060229 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00673.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0016 others(13): Show |
16 | 360 | 0.0444 | 5 | c.*36 others(16): Show |
SARAF | ENSG00000133872.14 | transcript | ENST00000256255.11 | protein_coding | 2773 | chr8 | TogoVar | |||||||
SARAF_chr8_30058003_30088064 | 30086802 | C | CCATGG | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02922.hp2 NA21309.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0011 | a0001c0004t0001g0244 a0001c0004t0001g0245 a0001c0004t0011g0243 |
3 | 360 | 0.0083 | 5 | c.-38 others(16): Show |
SARAF | ENSG00000133872.14 | transcript | ENST00000256255.11 | protein_coding | 3739 | chr8 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668425 | T | TCTCCC | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG03098.hp2 others(3): Show |
a0001a0003a0007 | a0001c0001a0001c0030a0001c0057others(3): Show | a0001c0001t0001a0001c0030t0002a0001c0057t0002others(3): Show | a0001c0001t0001g0258 a0001c0030t0002g0231 a0001c0057t0002g0032 others(3): Show |
6 | 262 | 0.0229 | 5 | c.249 others(24): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133698009 | T | TAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG02647.hp1 others(2): Show |
a0001a0002 | a0001c0030a0002c0003a0002c0005others(2): Show | a0001c0030t0002a0002c0003t0002a0002c0005t0003others(2): Show | a0001c0030t0002g0241 a0002c0003t0002g0011 a0002c0005t0003g0092 others(2): Show |
5 | 262 | 0.0191 | 5 | c.166 others(24): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 13/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133722121 | C | CACAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(132): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0006a0001c0007others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0078 a0001c0001t0001g0132 a0001c0001t0001g0133 others(132): Show |
135 | 262 | 0.5153 | 5 | c.916 others(22): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 6/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133736390 | G | GTTTGT | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01192.hp2 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0042a0001c0043others(11): Show | a0001c0001t0003a0001c0042t0001a0001c0043t0001others(12): Show | a0001c0001t0003g0047 a0001c0042t0001g0091 a0001c0043t0001g0083 others(17): Show |
20 | 262 | 0.0763 | 5 | c.-31 others(22): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 1/20 | chr9 | TogoVar | |||||||
SARM1_chr17_28366694_28409049 | 28387213 | A | ATTCTT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0014others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0015 others(46): Show |
72 | 336 | 0.2143 | 5 | c.163 others(22): Show |
SARM1 | ENSG00000004139.14 | transcript | ENST00000585482.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SARNP_chr12_55752270_55822724 | 55755940 | C | CAAAGT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(272): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(267): Show |
275 | 276 | 0.9964 | 5 | c.*15 others(16): Show |
SARNP | ENSG00000205323.9 | transcript | ENST00000336133.8 | protein_coding | 1329 | chr12 | TogoVar | |||||||
SARNP_chr12_55752270_55822724 | 55778979 | G | GCAAAA | intron_variant | MODIFIER | HG02818.hp2 HG03471.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0140 a0001c0001t0001g0165 |
3 | 276 | 0.0109 | 5 | c.501 others(24): Show |
SARNP | ENSG00000205323.9 | transcript | ENST00000336133.8 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
SARNP_chr12_55752270_55822724 | 55799559 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG03225.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0217 others(4): Show |
7 | 276 | 0.0254 | 5 | c.251 others(21): Show |
SARNP | ENSG00000205323.9 | transcript | ENST00000336133.8 | protein_coding | 4/10 | chr12 | TogoVar | |||||||
SARS1_chr1_109208918_109243182 | 109226677 | A | AAAAAT | intron_variant | MODIFIER | HG00741.hp1 HG01952.hp2 HG03492.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0033 a0001c0001t0001g0121 a0001c0001t0001g0123 others(3): Show |
6 | 402 | 0.0149 | 5 | c.208 others(22): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SARS2_chr19_38910266_38935763 | 38913768 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01255.hp1 HG01361.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(11): Show |
21 | 420 | 0.0500 | 5 | c.*18 others(16): Show |
SARS2 | ENSG00000104835.15 | transcript | ENST00000221431.11 | protein_coding | 1497 | chr19 | TogoVar | |||||||
SART1_chr11_65956734_65985137 | 65961205 | A | AAAAAC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp1 others(126): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0004a0001c0005others(11): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0015others(17): Show | a0001c0003t0002g0067 a0001c0003t0002g0162 a0001c0003t0002g0163 others(95): Show |
129 | 384 | 0.3359 | 5 | c.-57 others(14): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 528 | chr11 | TogoVar | |||||||
SART3_chr12_108517214_108566173 | 108545967 | C | CAAAAA | intron_variant | MODIFIER | HG01192.hp1 HG01361.hp2 HG02647.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0211 a0002c0002t0001g0222 a0002c0002t0001g0232 others(3): Show |
6 | 394 | 0.0152 | 5 | c.545 others(20): Show |
SART3 | ENSG00000075856.12 | transcript | ENST00000546815.6 | protein_coding | 3/18 | chr12 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148359325 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp1 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(17): Show | a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0191 others(40): Show |
43 | 322 | 0.1335 | 5 | c.156 others(24): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148360636 | A | ACCCCC | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp2 HG01258.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(7): Show | a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0198 others(19): Show |
22 | 322 | 0.0683 | 5 | c.156 others(24): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148381617 | C | CTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01258.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0116 a0001c0001t0001g0166 a0001c0001t0001g0177 others(21): Show |
24 | 322 | 0.0745 | 5 | c.157 others(22): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148506145 | T | TTGAAC | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0017 | a0001c0001t0001g0107 a0001c0001t0011g0321 a0001c0001t0017g0231 others(1): Show |
4 | 322 | 0.0124 | 5 | c.730 others(22): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SAT1_chrX_23778173_23791210 | 23780476 | A | ATATAT | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 330 | 0.0030 | 5 | c.-28 others(16): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 2696 | chrX | TogoVar |