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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPTY2D1_chr11_18601403_18639342 | 18632353 | TG | T | intron_variant | MODIFIER | HG02280.hp1 HG02965.hp1 HG03516.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0009 | a0001c0001t0001a0001c0001t0025a0002c0003t0001others(1): Show | a0001c0001t0001g0359 a0001c0001t0025g0260 a0002c0003t0001g0095 others(1): Show |
4 | 444 | 0.0090 | -1 | c.60+ others(8): Show |
SPTY2D1 | ENSG00000179119.15 | transcript | ENST00000336349.6 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
SPZ1_chr5_80315002_80326842 | 80316968 | GT | G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(202): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(7): Show |
205 | 434 | 0.4724 | -1 | c.-32 others(6): Show |
SPZ1 | ENSG00000164299.7 | transcript | ENST00000296739.6 | protein_coding | 3033 | chr5 | TogoVar | |||||||
SPZ1_chr5_80315002_80326842 | 80316999 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0013a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(19): Show |
369 | 434 | 0.8502 | -1 | c.-32 others(6): Show |
SPZ1 | ENSG00000164299.7 | transcript | ENST00000296739.6 | protein_coding | 3002 | chr5 | TogoVar | |||||||
SPZ1_chr5_80315002_80326842 | 80317347 | AT | A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 434 | 0.0069 | -1 | c.-28 others(6): Show |
SPZ1 | ENSG00000164299.7 | transcript | ENST00000296739.6 | protein_coding | 2654 | chr5 | TogoVar | |||||||
SPZ1_chr5_80315002_80326842 | 80317729 | AT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01256.hp2 others(4): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0002 | a0002c0002t0001g0000 a0004c0004t0002g0000 |
7 | 434 | 0.0161 | -1 | c.-24 others(6): Show |
SPZ1 | ENSG00000164299.7 | transcript | ENST00000296739.6 | protein_coding | 2272 | chr5 | TogoVar | |||||||
SPZ1_chr5_80315002_80326842 | 80319289 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(346): Show |
a0001a0003a0005others(8): Show | a0001c0001a0001c0013a0003c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(14): Show |
349 | 434 | 0.8042 | -1 | c.-92 others(5): Show |
SPZ1 | ENSG00000164299.7 | transcript | ENST00000296739.6 | protein_coding | 712 | chr5 | TogoVar | |||||||
SPZ1_chr5_80315002_80326842 | 80321231 | AG | A | frameshift_variant | HIGH | HG01243.hp2 HG02055.hp2 HG03453.hp2 |
a0006 | a0006c0006 | a0006c0006t0004 | a0006c0006t0004g0000 | 3 | 434 | 0.0069 | -1 | c.101 others(5): Show |
p.Glu others(5): Show |
SPZ1 | ENSG00000164299.7 | transcript | ENST00000296739.6 | protein_coding | 1/1 | 1232/1841 | 1018/1293 | 340/430 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
SPZ1_chr5_80315002_80326842 | 80321473 | AG | A | frameshift_variant | HIGH | NA19062.hp2 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 434 | 0.0023 | -1 | c.126 others(5): Show |
p.Gly others(5): Show |
SPZ1 | ENSG00000164299.7 | transcript | ENST00000296739.6 | protein_coding | 1/1 | 1476/1841 | 1262/1293 | 421/430 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
SPZ1_chr5_80315002_80326842 | 80321842 | AT | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(138): Show |
a0001a0007a0008others(2): Show | a0001c0001a0007c0007a0008c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0007c0007t0002others(4): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0007c0007t0002g0000 others(4): Show |
141 | 434 | 0.3249 | -1 | c.*33 others(5): Show |
SPZ1 | ENSG00000164299.7 | transcript | ENST00000296739.6 | protein_coding | 1 | chr5 | TogoVar | |||||||
SPZ1_chr5_80315002_80326842 | 80323918 | CA | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(106): Show |
a0001a0009a0011 | a0001c0001a0001c0013a0009c0009others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(3): Show |
109 | 434 | 0.2512 | -1 | c.*24 others(6): Show |
SPZ1 | ENSG00000164299.7 | transcript | ENST00000296739.6 | protein_coding | 2077 | chr5 | TogoVar | |||||||
SPZ1_chr5_80315002_80326842 | 80323935 | AT | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(127): Show |
a0001a0007a0008others(2): Show | a0001c0001a0007c0007a0008c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(6): Show |
130 | 434 | 0.2995 | -1 | c.*24 others(6): Show |
SPZ1 | ENSG00000164299.7 | transcript | ENST00000296739.6 | protein_coding | 2094 | chr5 | TogoVar | |||||||
SQLE_chr8_124993505_125027283 | 124999650 | TC | T | frameshift_variant | HIGH | HG02895.hp2 | a0004 | a0004c0016 | a0004c0016t0005 | a0004c0016t0005g0100 | 1 | 378 | 0.0027 | -1 | c.254 others(4): Show |
p.Pro others(4): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 1/11 | 1153/2962 | 254/1725 | 85/574 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
SQLE_chr8_124993505_125027283 | 125001675 | TA | T | intron_variant | MODIFIER | HG01099.hp1 HG01168.hp1 HG02572.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0132 a0001c0001t0001g0151 a0001c0001t0002g0158 others(4): Show |
7 | 378 | 0.0185 | -1 | c.292 others(9): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SQLE_chr8_124993505_125027283 | 125005370 | AT | A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(166): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(106): Show |
169 | 378 | 0.4471 | -1 | c.545 others(8): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SQLE_chr8_124993505_125027283 | 125006620 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG01261.hp1 HG01516.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(2): Show | a0001c0001t0001g0035 a0001c0001t0007g0042 a0001c0001t0007g0045 others(3): Show |
9 | 378 | 0.0238 | -1 | c.726 others(8): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SQLE_chr8_124993505_125027283 | 125013356 | CT | C | intron_variant | MODIFIER | HG02132.hp2 HG04199.hp2 NA18948.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 others(3): Show |
6 | 378 | 0.0159 | -1 | c.120 others(10): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SQLE_chr8_124993505_125027283 | 125014509 | GA | G | intron_variant | MODIFIER | HG02145.hp1 HG02922.hp2 HG02970.hp2 |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0087 a0001c0003t0008g0088 a0001c0003t0008g0089 |
3 | 378 | 0.0079 | -1 | c.120 others(10): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 7/10 | chr8 | TogoVar | |||||||
SQLE_chr8_124993505_125027283 | 125019867 | AC | A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(88): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0018 | a0001c0001t0001a0001c0002t0003a0001c0002t0012others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(46): Show |
91 | 378 | 0.2407 | -1 | c.144 others(9): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
SQLE_chr8_124993505_125027283 | 125022474 | TA | T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(213): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(140): Show |
216 | 378 | 0.5714 | -1 | c.*53 others(5): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 192 | chr8 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45633126 | TA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00639.hp1 others(30): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0018others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0018t0001others(5): Show | a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0240 others(29): Show |
33 | 340 | 0.0971 | -1 | c.-19 others(6): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 1902 | chr15 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45633693 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(97): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0018others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0018t0001others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0020 others(95): Show |
100 | 340 | 0.2941 | -1 | c.-14 others(6): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 1335 | chr15 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45633713 | AG | A | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0317 others(1): Show |
4 | 340 | 0.0118 | -1 | c.-14 others(6): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 1315 | chr15 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45636406 | CT | C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp2 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(77): Show |
86 | 340 | 0.2529 | -1 | c.-18 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45636988 | CT | C | intron_variant | MODIFIER | HG01169.hp2 HG01884.hp1 HG02257.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0007t0001a0002c0002t0001 | a0001c0001t0001g0015 a0001c0001t0001g0213 a0001c0001t0001g0214 others(11): Show |
15 | 340 | 0.0441 | -1 | c.-18 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45649785 | AT | A | intron_variant | MODIFIER | HG00423.hp2 NA18992.hp2 NA19081.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0301 a0002c0002t0001g0300 a0002c0002t0001g0302 |
3 | 340 | 0.0088 | -1 | c.-17 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45652638 | CT | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00558.hp1 others(43): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(5): Show | a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 others(42): Show |
46 | 340 | 0.1353 | -1 | c.-17 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45653246 | CG | C | intron_variant | MODIFIER | HG00621.hp2 HG01109.hp1 HG01346.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0026 others(26): Show |
29 | 340 | 0.0853 | -1 | c.-17 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45654115 | CA | C | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01361.hp1 others(18): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0042 a0001c0001t0001g0082 a0001c0001t0001g0104 others(18): Show |
21 | 340 | 0.0618 | -1 | c.-17 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45655999 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0099 a0001c0001t0001g0171 others(20): Show |
25 | 340 | 0.0735 | -1 | c.-17 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45656456 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(139): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(133): Show |
142 | 340 | 0.4177 | -1 | c.-17 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45661290 | TA | T | intron_variant | MODIFIER | HG00609.hp2 HG01496.hp1 HG01952.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0043 others(23): Show |
28 | 340 | 0.0824 | -1 | c.235 others(8): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45665537 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(182): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0018others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0015 others(176): Show |
185 | 340 | 0.5441 | -1 | c.405 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45665584 | CT | C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02896.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0006t0001others(2): Show | a0001c0001t0001g0100 a0001c0001t0001g0232 a0002c0002t0001g0153 others(4): Show |
7 | 340 | 0.0206 | -1 | c.405 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45667941 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(149): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0018others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0018t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0021 others(144): Show |
152 | 340 | 0.4471 | -1 | c.406 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45674440 | TA | T | intron_variant | MODIFIER | HG01069.hp2 HG02293.hp1 HG02895.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0126 others(7): Show |
10 | 340 | 0.0294 | -1 | c.654 others(8): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45674677 | GA | G | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG01106.hp2 others(16): Show |
a0001a0010 | a0001c0001a0010c0009 | a0001c0001t0001a0010c0009t0001 | a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0106 others(16): Show |
19 | 340 | 0.0559 | -1 | c.654 others(8): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45676226 | GA | G | frameshift_variant | HIGH | NA19075.hp1 | a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0203 | 1 | 340 | 0.0029 | -1 | c.785 others(4): Show |
p.Asn others(5): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 6/10 | 882/1701 | 785/1353 | 262/450 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
SQOR_chr15_45630029_45696281 | 45676283 | CA | C | frameshift_variant | HIGH | NA19075.hp1 | a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0203 | 1 | 340 | 0.0029 | -1 | c.840 others(4): Show |
p.Lys others(5): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 6/10 | 937/1701 | 840/1353 | 280/450 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
SQOR_chr15_45630029_45696281 | 45683026 | CA | C | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00735.hp2 others(46): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0073 others(45): Show |
49 | 340 | 0.1441 | -1 | c.104 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45684078 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(66): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(6): Show | a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0069 others(66): Show |
69 | 340 | 0.2029 | -1 | c.104 others(10): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45687946 | TG | T | intron_variant | MODIFIER | HG00558.hp1 HG02165.hp2 HG02523.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0001g0170 others(1): Show |
4 | 340 | 0.0118 | -1 | c.104 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45689417 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01070.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0027 a0001c0001t0001g0114 a0001c0001t0002g0004 others(25): Show |
29 | 340 | 0.0853 | -1 | c.129 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45690082 | CT | C | intron_variant | MODIFIER | HG00741.hp1 HG01496.hp2 HG02257.hp2 others(12): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0003a0005c0008t0001 | a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0078 others(12): Show |
15 | 340 | 0.0441 | -1 | c.129 others(9): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQOR_chr15_45630029_45696281 | 45692204 | AT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(78): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0069 others(78): Show |
81 | 340 | 0.2382 | -1 | c.*11 others(6): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 924 | chr15 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45694120 | TA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01074.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0128 a0001c0001t0001g0180 a0001c0003t0001g0034 others(18): Show |
21 | 340 | 0.0618 | -1 | c.*30 others(6): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 2840 | chr15 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45694981 | AT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp2 others(59): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0056 a0001c0001t0001g0078 others(59): Show |
62 | 340 | 0.1824 | -1 | c.*39 others(6): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 3701 | chr15 | TogoVar | |||||||
SQSTM1_chr5_179815905_179843078 | 179816412 | CT | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00609.hp1 others(68): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0029 others(64): Show |
71 | 462 | 0.1537 | -1 | c.-45 others(6): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 4492 | chr5 | TogoVar | |||||||
SQSTM1_chr5_179815905_179843078 | 179816773 | CT | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00609.hp1 others(52): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0029 others(48): Show |
55 | 462 | 0.1191 | -1 | c.-41 others(6): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 4131 | chr5 | TogoVar | |||||||
SQSTM1_chr5_179815905_179843078 | 179818012 | CA | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(102): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(91): Show |
105 | 462 | 0.2273 | -1 | c.-29 others(6): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 2892 | chr5 | TogoVar | |||||||
SQSTM1_chr5_179815905_179843078 | 179819326 | GC | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(337): Show |
382 | 462 | 0.8268 | -1 | c.-16 others(6): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 1578 | chr5 | TogoVar |