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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHISA9_chr16_12896598_13245416 | 13204134 | TTATCTAT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00738.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0002g0012 others(40): Show |
43 | 214 | 0.2009 | -12 | c.847 others(27): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13204206 | GTCTGTCT others(5): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0060 | a0001c0002t0060g0183 | 1 | 214 | 0.0047 | -12 | c.847 others(27): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13204210 | GTCTATCT others(5): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 214 | 0.0047 | -12 | c.847 others(27): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13208854 | GGGTGCTT others(5): Show |
G | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0018 | 1 | 214 | 0.0047 | -12 | c.848 others(29): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13222784 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(66): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0008 a0001c0001t0001g0085 a0001c0001t0001g0094 others(66): Show |
69 | 214 | 0.3224 | -12 | c.895 others(29): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13222809 | TATACATA others(5): Show |
T | intron_variant | MODIFIER | HG01993.hp2 NA18941.hp1 NA18970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0067others(2): Show | a0001c0001t0003g0204 a0001c0001t0010g0133 a0001c0001t0067g0015 others(2): Show |
5 | 214 | 0.0234 | -12 | c.895 others(29): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44288014 | TGGCTGGG others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(22): Show |
a0001a0002 | a0001c0010a0001c0016a0001c0048others(20): Show | a0001c0010t0005a0001c0010t0016a0001c0016t0001others(21): Show | a0001c0010t0005g0333 a0001c0010t0016g0050 a0001c0016t0001g0081 others(22): Show |
25 | 380 | 0.0658 | -12 | c.282 others(29): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 3/4 | chr22 | TogoVar | |||||||
SHISAL2A_chr1_52628168_52662065 | 52646492 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02145.hp1 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 others(5): Show |
8 | 444 | 0.0180 | -12 | c.322 others(29): Show |
SHISAL2A | ENSG00000182183.15 | transcript | ENST00000517870.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHISAL2A_chr1_52628168_52662065 | 52653286 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0409 | 1 | 444 | 0.0023 | -12 | c.323 others(29): Show |
SHISAL2A | ENSG00000182183.15 | transcript | ENST00000517870.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHISAL2A_chr1_52628168_52662065 | 52654224 | TATAGATA others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01175.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0138 a0001c0001t0001g0353 others(7): Show |
13 | 444 | 0.0293 | -12 | c.323 others(29): Show |
SHISAL2A | ENSG00000182183.15 | transcript | ENST00000517870.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHISAL2A_chr1_52628168_52662065 | 52654250 | TAGATAGA others(5): Show |
T | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0339 | 1 | 444 | 0.0023 | -12 | c.323 others(29): Show |
SHISAL2A | ENSG00000182183.15 | transcript | ENST00000517870.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHISAL2B_chr5_64685503_64723190 | 64690307 | TGGGGACA others(5): Show |
T | upstream_gene_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 | 1 | 390 | 0.0026 | -12 | c.-31 others(21): Show |
SHISAL2B | ENSG00000145642.12 | transcript | ENST00000389074.6 | protein_coding | 195 | chr5 | TogoVar | |||||||
SHLD1_chr20_5745401_5869395 | 5814651 | CTTCTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0195 | 1 | 328 | 0.0031 | -12 | c.178 others(31): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5817428 | CTCTCTGT others(5): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0240 | 1 | 328 | 0.0031 | -12 | c.178 others(31): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5817432 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG03139.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0004 | a0002c0003t0001g0084 a0002c0003t0004g0042 |
2 | 328 | 0.0061 | -12 | c.178 others(31): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5832797 | TAATAAAT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00621.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0040 a0001c0001t0001g0073 a0001c0001t0001g0148 others(31): Show |
34 | 328 | 0.1037 | -12 | c.179 others(31): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5839486 | AAGATAGA others(5): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0086 | 1 | 328 | 0.0031 | -12 | c.179 others(31): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5841170 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 328 | 0.0031 | -12 | c.179 others(31): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5850112 | CAATAATA others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02615.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(4): Show | a0001c0001t0001g0022 a0001c0001t0001g0264 a0001c0002t0002g0008 others(9): Show |
12 | 328 | 0.0366 | -12 | c.179 others(31): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5860876 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(118): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0323 a0001c0001t0003g0020 a0001c0001t0003g0024 others(118): Show |
121 | 328 | 0.3689 | -12 | c.179 others(29): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD2_chr10_87090206_87196465 | 87129667 | GACACAGG others(5): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG02723.hp2 HG04184.hp1 |
a0001a0014 | a0001c0001a0014c0013 | a0001c0001t0003a0014c0013t0003 | a0001c0001t0003g0266 a0001c0001t0003g0267 a0014c0013t0003g0265 |
3 | 340 | 0.0088 | -12 | c.-5- others(29): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
SHLD2_chr10_87090206_87196465 | 87144616 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0081 a0001c0001t0004g0001 a0001c0001t0004g0012 others(37): Show |
41 | 340 | 0.1206 | -12 | c.-5- others(27): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHLD2_chr10_87090206_87196465 | 87166950 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 340 | 0.0029 | -12 | c.163 others(31): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHMT1_chr17_18322873_18368550 | 18337547 | TCCCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02109.hp1 HG02135.hp1 others(15): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0003a0001c0003t0003a0003c0004t0003others(1): Show | a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 others(15): Show |
18 | 220 | 0.0818 | -12 | c.815 others(29): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 7/11 | chr17 | TogoVar | |||||||
SHOC1_chr9_111681171_111799937 | 111689600 | AATAAATT others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(183): Show |
a0001a0002a0005others(10): Show | a0001c0001a0001c0023a0001c0027others(15): Show | a0001c0001t0001a0001c0023t0001a0001c0027t0001others(17): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(165): Show |
186 | 296 | 0.6284 | -12 | c.442 others(31): Show |
SHOC1 | ENSG00000165181.17 | transcript | ENST00000682961.1 | protein_coding | 27/27 | chr9 | TogoVar | |||||||
SHOC1_chr9_111681171_111799937 | 111689602 | TAAATTTT others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG03139.hp1 others(1): Show |
a0002 | a0002c0010 | a0002c0010t0004 | a0002c0010t0004g0112 a0002c0010t0004g0113 a0002c0010t0004g0114 others(1): Show |
4 | 296 | 0.0135 | -12 | c.442 others(31): Show |
SHOC1 | ENSG00000165181.17 | transcript | ENST00000682961.1 | protein_coding | 27/27 | chr9 | TogoVar | |||||||
SHOC2_chr10_110914604_111018665 | 110940910 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG01261.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0147 others(15): Show |
20 | 386 | 0.0518 | -12 | c.-23 others(33): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHOC2_chr10_110914604_111018665 | 111014636 | TTTTTTTT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 386 | 0.0026 | -12 | c.*28 others(23): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 972 | chr10 | TogoVar | |||||||
SHOX2_chr3_158090905_158111420 | 158096889 | AATATATA others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02080.hp2 HG02132.hp1 HG02273.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0079a0001c0001t0109 | a0001c0001t0016g0050 a0001c0001t0016g0104 a0001c0001t0016g0219 others(3): Show |
7 | 380 | 0.0184 | -12 | c.*11 others(23): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 5/5 | 1126 | chr3 | TogoVar | ||||||
SHOX2_chr3_158090905_158111420 | 158105827 | TCCTCCGC others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG04115.hp2 | a0004 | a0004c0004 | a0004c0004t0116 | a0004c0004t0116g0071 | 1 | 380 | 0.0026 | -12 | c.186 others(19): Show |
p.Gly others(11): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 1/5 | 593/3478 | 186/960 | 62/319 | chr3 | TogoVar | |||
SHOX2_chr3_158090905_158111420 | 158106571 | CAGAGAGA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0032 | a0001c0001t0008g0139 a0001c0001t0032g0058 a0001c0001t0032g0193 |
4 | 380 | 0.0105 | -12 | c.-55 others(21): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 152 | chr3 | TogoVar | |||||||
SHOX_chrX_625791_656584 | 626336 | GTATCTCT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(27): Show | a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0003g0001 others(29): Show |
33 | 220 | 0.1500 | -12 | c.-45 others(23): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4454 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 645390 | ATTTTTTT others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(46): Show |
a0000a0001a0004 | a0000c0002a0001c0001a0004c0004 | a0000c0002t0077a0000c0002t0085a0001c0001t0001others(39): Show | a0000c0002t0077g0031 a0000c0002t0085g0045 a0001c0001t0001g0005 others(45): Show |
49 | 220 | 0.2227 | -12 | c.*77 others(21): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 776 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHOX_chrX_625791_656584 | 655568 | GTCTCTCT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0183a0001c0001t0194 | a0001c0001t0183g0081 a0001c0001t0194g0205 |
2 | 220 | 0.0091 | -12 | c.*10 others(25): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 3985 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655604 | CTCTCTCT others(5): Show |
C | downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0098 | 1 | 220 | 0.0046 | -12 | c.*10 others(25): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4021 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655606 | CTCTCTCT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0125 | a0001c0001t0010g0008 a0001c0001t0125g0008 |
2 | 220 | 0.0091 | -12 | c.*10 others(25): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4023 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655610 | CTCTCTAT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp2 NA19077.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0086a0001c0001t0105a0001c0001t0113 | a0001c0001t0086g0202 a0001c0001t0105g0129 a0001c0001t0113g0058 |
3 | 220 | 0.0136 | -12 | c.*10 others(25): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4027 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655612 | CTCTATAT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02135.hp1 | a0000 | a0000c0002 | a0000c0002t0097 | a0000c0002t0097g0194 | 1 | 220 | 0.0046 | -12 | c.*10 others(25): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4029 | chrX | TogoVar | |||||||
SHOX_chrX_625791_656584 | 655614 | CTATATAT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp2 NA18964.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0049a0001c0001t0127others(1): Show | a0001c0001t0014g0051 a0001c0001t0049g0059 a0001c0001t0127g0043 others(1): Show |
4 | 220 | 0.0182 | -12 | c.*10 others(25): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4031 | chrX | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72748329 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02895.hp1 HG03209.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0190 a0002c0002t0001g0192 a0002c0002t0001g0197 |
3 | 222 | 0.0135 | -12 | c.*19 others(23): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 947 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72763054 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0022 | 1 | 222 | 0.0045 | -12 | c.118 others(33): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72772448 | GTCAGATG others(5): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 222 | 0.0045 | -12 | c.118 others(33): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72796101 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02809.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 others(2): Show |
5 | 222 | 0.0225 | -12 | c.106 others(31): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72833444 | TGATAGAT others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01978.hp1 HG02109.hp2 others(13): Show |
a0002a0005a0006others(1): Show | a0002c0002a0005c0005a0006c0006others(1): Show | a0002c0002t0001a0005c0005t0001a0006c0006t0001others(1): Show | a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0015 others(13): Show |
16 | 222 | 0.0721 | -12 | c.487 others(27): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72833491 | TAGATAGA others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp1 HG01243.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0059 others(17): Show |
21 | 222 | 0.0946 | -12 | c.487 others(29): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72833495 | TAGATAGA others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01255.hp2 HG01433.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0040 others(20): Show |
23 | 222 | 0.1036 | -12 | c.487 others(29): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72833499 | TAGACAGA others(5): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 222 | 0.0045 | -12 | c.487 others(29): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72833534 | CAGATAGA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp1 others(45): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0008a0003c0003others(5): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0005others(8): Show | a0002c0002t0001g0080 a0002c0002t0001g0113 a0002c0002t0001g0114 others(45): Show |
48 | 222 | 0.2162 | -12 | c.487 others(29): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72852098 | CTCTCTCT others(5): Show |
C | upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 222 | 0.0045 | -12 | c.-37 others(23): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3654 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72852104 | CTCTATAT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0083 a0001c0001t0002g0194 |
2 | 222 | 0.0090 | -12 | c.-37 others(23): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3660 | chr3 | TogoVar |