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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAMD4A_chr14_54562128_54798312 | 54757383 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG02056.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0055 a0001c0001t0001g0091 a0001c0001t0001g0096 others(6): Show |
9 | 262 | 0.0344 | -8 | c.117 others(27): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4B_chr19_39337421_39390700 | 39339705 | CCCCCCCC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp2 HG02630.hp1 HG02895.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0098 a0001c0001t0002g0108 others(8): Show |
18 | 232 | 0.0776 | -8 | c.-31 others(19): Show |
SAMD4B | ENSG00000179134.16 | transcript | ENST00000610417.5 | protein_coding | 2715 | chr19 | TogoVar | |||||||
SAMD5_chr6_147503690_147575021 | 147515176 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01891.hp1 HG01891.hp2 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(24): Show | a0001c0001t0001g0005 a0001c0001t0002g0056 a0001c0001t0009g0057 others(28): Show |
33 | 364 | 0.0907 | -8 | c.459 others(25): Show |
SAMD5 | ENSG00000203727.4 | transcript | ENST00000367474.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SAMD5_chr6_147503690_147575021 | 147515431 | ACCATCCA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02559.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004a0001c0002t0014others(6): Show | a0001c0001t0001g0005 a0001c0002t0004g0083 a0001c0002t0004g0084 others(8): Show |
12 | 364 | 0.0330 | -8 | c.459 others(25): Show |
SAMD5 | ENSG00000203727.4 | transcript | ENST00000367474.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SAMD5_chr6_147503690_147575021 | 147551812 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0225 a0001c0001t0001g0293 a0001c0001t0001g0312 others(165): Show |
177 | 364 | 0.4863 | -8 | c.460 others(27): Show |
SAMD5 | ENSG00000203727.4 | transcript | ENST00000367474.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SAMD7_chr3_169906572_169944175 | 169909828 | GCCTGTAG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01081.hp2 HG02615.hp2 HG02922.hp2 others(13): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003 | a0001c0004t0001g0059 a0001c0004t0001g0063 a0001c0004t0001g0064 others(7): Show |
16 | 416 | 0.0385 | -8 | c.-21 others(19): Show |
SAMD7 | ENSG00000187033.9 | transcript | ENST00000335556.7 | protein_coding | 1743 | chr3 | TogoVar | |||||||
SAMD8_chr10_75106656_75187123 | 75169487 | CAAAGAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(243): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(232): Show |
246 | 324 | 0.7593 | -8 | c.792 others(23): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SAMD9L_chr7_93125056_93153385 | 93130660 | AGTGTGTG others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG00738.hp2 others(39): Show |
a0002a0003a0005others(3): Show | a0002c0003a0002c0006a0003c0005others(6): Show | a0002c0003t0019a0002c0006t0011a0003c0005t0005others(10): Show | a0002c0003t0019g0021 a0002c0006t0011g0126 a0003c0005t0005g0006 others(18): Show |
42 | 402 | 0.1045 | -8 | c.*54 others(17): Show |
SAMD9L | ENSG00000177409.12 | transcript | ENST00000318238.9 | protein_coding | 5/5 | 549 | chr7 | TogoVar | ||||||
SAMD9_chr7_93094518_93122979 | 93094827 | GACACACA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00621.hp2 others(41): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0047 a0001c0001t0003g0023 a0001c0002t0001g0002 others(19): Show |
44 | 392 | 0.1122 | -8 | c.*64 others(19): Show |
SAMD9 | ENSG00000205413.8 | transcript | ENST00000379958.3 | protein_coding | 4690 | chr7 | TogoVar | |||||||
SAMD9_chr7_93094518_93122979 | 93094956 | AACACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp2 HG02970.hp1 HG03209.hp1 others(2): Show |
a0001a0005 | a0001c0002a0005c0007 | a0001c0002t0001a0005c0007t0001 | a0001c0002t0001g0002 a0005c0007t0001g0018 |
5 | 392 | 0.0128 | -8 | c.*63 others(19): Show |
SAMD9 | ENSG00000205413.8 | transcript | ENST00000379958.3 | protein_coding | 4561 | chr7 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36912751 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01517.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0056 others(3): Show |
6 | 340 | 0.0177 | -8 | c.106 others(25): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 9/15 | chr20 | TogoVar | |||||||
SAMHD1_chr20_36885229_36956708 | 36947549 | GGGGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG02055.hp2 HG02559.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0030a0001c0001t0033others(5): Show | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(8): Show |
11 | 340 | 0.0324 | -8 | c.209 others(23): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
SANBR_chr2_61060871_61129280 | 61075983 | CTTTATTT others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 others(1): Show |
4 | 346 | 0.0116 | -8 | c.432 others(23): Show |
SANBR | ENSG00000162929.14 | transcript | ENST00000402291.6 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SAP130_chr2_127936222_128033059 | 127958635 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG00738.hp1 others(56): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0065 others(55): Show |
59 | 350 | 0.1686 | -8 | c.206 others(27): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | TogoVar | |||||||
SAP130_chr2_127936222_128033059 | 128029919 | ATATATAT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 a0001c0001t0004g0058 a0001c0001t0004g0059 |
3 | 350 | 0.0086 | -8 | c.-19 others(19): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1861 | chr2 | TogoVar | |||||||
SAP30BP_chr17_75662338_75713059 | 75687953 | TGTGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG01258.hp1 HG01361.hp1 HG02055.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0017 | a0001c0001t0001g0012 a0001c0001t0001g0190 a0001c0001t0001g0194 others(5): Show |
9 | 370 | 0.0243 | -8 | c.265 others(25): Show |
SAP30BP | ENSG00000161526.15 | transcript | ENST00000584667.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SAP30BP_chr17_75662338_75713059 | 75702307 | AGCCACCG others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01361.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(18): Show |
24 | 370 | 0.0649 | -8 | c.397 others(23): Show |
SAP30BP | ENSG00000161526.15 | transcript | ENST00000584667.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SAR1B_chr5_134596149_134637828 | 134598535 | ATTTTTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01069.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0088 a0001c0001t0001g0227 a0001c0001t0001g0277 others(6): Show |
9 | 322 | 0.0280 | -8 | c.*84 others(19): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 2613 | chr5 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134612641 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG02135.hp1 HG02683.hp1 HG03834.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0003g0171 a0001c0002t0001g0009 a0001c0002t0001g0105 others(17): Show |
21 | 322 | 0.0652 | -8 | c.244 others(21): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 4/6 | chr5 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134621475 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(184): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(178): Show |
187 | 322 | 0.5808 | -8 | c.59- others(21): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 2/6 | chr5 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134627801 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(82): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0030 others(77): Show |
85 | 322 | 0.2640 | -8 | c.-18 others(25): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
SARAF_chr8_30058003_30088064 | 30083751 | TTTCATTC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(296): Show |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(220): Show |
299 | 360 | 0.8306 | -8 | c.-81 others(17): Show |
SARAF | ENSG00000133872.14 | transcript | ENST00000256255.11 | protein_coding | 688 | chr8 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133665205 | TAACCTCG others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG01496.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0002a0001c0006t0002a0002c0002t0001others(3): Show | a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0061 others(9): Show |
12 | 262 | 0.0458 | -8 | c.263 others(27): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 20/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133691169 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01257.hp1 HG01258.hp2 others(5): Show |
a0003a0004 | a0003c0003a0003c0037a0003c0058others(1): Show | a0003c0003t0001a0003c0003t0003a0003c0037t0003others(2): Show | a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0003g0135 others(5): Show |
8 | 262 | 0.0305 | -8 | c.192 others(25): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 15/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133722642 | GCTCTCTC others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(68): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0007others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(23): Show | a0001c0001t0001g0078 a0001c0001t0001g0131 a0001c0001t0001g0132 others(68): Show |
71 | 262 | 0.2710 | -8 | c.916 others(25): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 6/20 | chr9 | TogoVar | |||||||
SARNP_chr12_55752270_55822724 | 55786435 | GGTTTGTT others(1): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG02886.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(2): Show |
5 | 276 | 0.0181 | -8 | c.501 others(25): Show |
SARNP | ENSG00000205323.9 | transcript | ENST00000336133.8 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
SARNP_chr12_55752270_55822724 | 55791694 | CAAAAAAG others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 others(1): Show |
4 | 276 | 0.0145 | -8 | c.407 others(25): Show |
SARNP | ENSG00000205323.9 | transcript | ENST00000336133.8 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
SARNP_chr12_55752270_55822724 | 55811572 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG02622.hp1 HG03654.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0078 others(2): Show |
5 | 276 | 0.0181 | -8 | c.36+ others(23): Show |
SARNP | ENSG00000205323.9 | transcript | ENST00000336133.8 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SARS1_chr1_109208918_109243182 | 109221970 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00609.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0262 others(15): Show |
20 | 402 | 0.0498 | -8 | c.137 others(25): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SARS2_chr19_38910266_38935763 | 38915373 | AGCCCAGA others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02735.hp2 HG03669.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0107 a0001c0001t0005g0113 a0001c0001t0005g0125 |
3 | 420 | 0.0071 | -8 | c.*22 others(17): Show |
SARS2 | ENSG00000104835.15 | transcript | ENST00000221431.11 | protein_coding | 16/16 | 225 | chr19 | TogoVar | ||||||
SARS2_chr19_38910266_38935763 | 38921010 | CACACAGA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(168): Show |
349 | 420 | 0.8310 | -8 | c.589 others(23): Show |
SARS2 | ENSG00000104835.15 | transcript | ENST00000221431.11 | protein_coding | 5/15 | chr19 | TogoVar | |||||||
SART3_chr12_108517214_108566173 | 108541998 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(158): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0001c0014others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(96): Show |
161 | 394 | 0.4086 | -8 | c.906 others(25): Show |
SART3 | ENSG00000075856.12 | transcript | ENST00000546815.6 | protein_coding | 6/18 | chr12 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148352596 | TATAAATA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(23): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(38): Show |
41 | 322 | 0.1273 | -8 | c.156 others(25): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148381617 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02145.hp2 others(6): Show |
a0001a0002a0006others(1): Show | a0001c0003a0002c0004a0006c0012others(1): Show | a0001c0003t0005a0001c0003t0007a0001c0003t0012others(3): Show | a0001c0003t0005g0266 a0001c0003t0005g0272 a0001c0003t0005g0274 others(6): Show |
9 | 322 | 0.0280 | -8 | c.157 others(25): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148387566 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG03209.hp2 HG03654.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0009a0001c0029others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0046 a0001c0001t0002g0023 a0001c0001t0005g0240 others(4): Show |
7 | 322 | 0.0217 | -8 | c.157 others(25): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148421146 | GAAGAAAG others(1): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02723.hp1 HG02818.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0038 a0001c0001t0002g0128 a0001c0001t0002g0205 others(6): Show |
9 | 322 | 0.0280 | -8 | c.286 others(27): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148434063 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02074.hp1 HG02083.hp1 HG02109.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0004others(6): Show | a0001c0001t0001g0191 a0001c0001t0001g0289 a0001c0001t0001g0294 others(13): Show |
16 | 322 | 0.0497 | -8 | c.286 others(25): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148458983 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00544.hp2 others(63): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(27): Show | a0001c0001t0001g0030 a0001c0001t0001g0101 a0001c0001t0002g0001 others(63): Show |
66 | 322 | 0.2050 | -8 | c.387 others(25): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148486936 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG01261.hp2 HG01346.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(13): Show | a0001c0001t0001g0294 a0001c0001t0002g0128 a0001c0001t0002g0264 others(15): Show |
18 | 322 | 0.0559 | -8 | c.628 others(23): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148487032 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp2 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0046 a0001c0001t0001g0156 a0001c0001t0001g0309 others(46): Show |
49 | 322 | 0.1522 | -8 | c.628 others(23): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148489850 | CTGTGTGT others(1): Show |
C | 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 | -8 | c.729 others(25): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148492827 | TATAAATA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01167.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0001c0024others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(14): Show | a0001c0001t0001g0107 a0001c0001t0002g0180 a0001c0001t0002g0205 others(23): Show |
26 | 322 | 0.0808 | -8 | c.729 others(25): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148511324 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01169.hp1 others(38): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(21): Show | a0001c0001t0001g0177 a0001c0001t0001g0289 a0001c0001t0002g0021 others(38): Show |
41 | 322 | 0.1273 | -8 | c.730 others(25): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148514686 | ATTTCAAT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0156 others(40): Show |
43 | 322 | 0.1335 | -8 | c.862 others(23): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148526046 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01099.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0001a0001c0013t0001a0001c0013t0002others(8): Show | a0001c0001t0001g0151 a0001c0013t0001g0164 a0001c0013t0002g0193 others(18): Show |
21 | 322 | 0.0652 | -8 | c.128 others(25): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148537776 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01109.hp1 others(15): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0108 a0001c0001t0002g0146 a0001c0001t0002g0149 others(15): Show |
18 | 322 | 0.0559 | -8 | c.209 others(27): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH3_chrX_129774949_129800201 | 129775931 | AAATTAAT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 307 | 0.0033 | -8 | c.-41 others(19): Show |
SASH3 | ENSG00000122122.10 | transcript | ENST00000356892.4 | protein_coding | 4017 | chrX | TogoVar | |||||||
SASH3_chrX_129774949_129800201 | 129776581 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02809.hp2 HG02818.hp2 HG02886.hp2 others(9): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0193 others(9): Show |
12 | 307 | 0.0391 | -8 | c.-35 others(19): Show |
SASH3 | ENSG00000122122.10 | transcript | ENST00000356892.4 | protein_coding | 3367 | chrX | TogoVar | |||||||
SAT1_chrX_23778173_23791210 | 23781874 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02559.hp1 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0003g0002 |
3 | 330 | 0.0091 | -8 | c.-14 others(19): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 1298 | chrX | TogoVar | |||||||
SAT1_chrX_23778173_23791210 | 23789343 | GAAACGCC others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 330 | 0.0030 | -8 | c.*34 others(19): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 3134 | chrX | TogoVar |