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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPIRE2_chr16_89823475_89876319 | 89849873 | TG | T | intron_variant | MODIFIER | HG01993.hp2 HG02148.hp1 HG02273.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0172 a0001c0001t0001g0216 a0001c0001t0001g0228 others(3): Show |
6 | 356 | 0.0169 | -1 | c.289 others(8): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 2/14 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852210 | TC | T | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00642.hp2 others(40): Show |
a0001a0008 | a0001c0001a0001c0011a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0011t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0056 a0001c0001t0001g0059 others(40): Show |
43 | 356 | 0.1208 | -1 | c.645 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852644 | CT | C | intron_variant | MODIFIER | HG01074.hp1 HG01261.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0077 a0001c0001t0001g0089 others(1): Show |
4 | 356 | 0.0112 | -1 | c.646 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89854670 | GA | G | intron_variant | MODIFIER | HG03669.hp2 HG04115.hp1 HG04204.hp1 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0017 a0001c0009t0001g0018 a0001c0009t0001g0019 |
3 | 356 | 0.0084 | -1 | c.891 others(7): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 5/14 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89856611 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01070.hp1 others(15): Show |
a0001a0002a0015 | a0001c0001a0001c0009a0001c0011others(3): Show | a0001c0001t0001a0001c0009t0001a0001c0011t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0069 others(15): Show |
18 | 356 | 0.0506 | -1 | c.110 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89857136 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01109.hp2 others(25): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0328 others(25): Show |
28 | 356 | 0.0787 | -1 | c.110 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89857881 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG02897.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 others(4): Show |
7 | 356 | 0.0197 | -1 | c.110 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89864995 | CT | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00597.hp2 others(29): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0007others(4): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0014others(5): Show | a0001c0001t0002g0051 a0001c0001t0002g0122 a0002c0002t0002g0022 others(29): Show |
32 | 356 | 0.0899 | -1 | c.177 others(10): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89865004 | CT | C | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp2 HG01346.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0062 a0001c0001t0001g0125 a0001c0001t0001g0178 others(6): Show |
9 | 356 | 0.0253 | -1 | c.177 others(10): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89865965 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(52): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0011a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0223 others(52): Show |
55 | 356 | 0.1545 | -1 | c.177 others(10): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89866599 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(119): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0054 others(119): Show |
122 | 356 | 0.3427 | -1 | c.177 others(10): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89867306 | GC | G | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01516.hp2 others(32): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(4): Show | a0001c0001t0001g0057 a0001c0001t0001g0083 a0001c0001t0001g0105 others(32): Show |
35 | 356 | 0.0983 | -1 | c.177 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 12/14 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89869054 | AT | A | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0008a0001c0011 | a0001c0001t0001a0001c0008t0001a0001c0011t0001 | a0001c0001t0001g0284 a0001c0008t0001g0010 a0001c0011t0001g0318 |
3 | 356 | 0.0084 | -1 | c.180 others(9): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89874773 | AT | A | downstream_gene_variant | MODIFIER | HG01256.hp2 HG02451.hp1 HG03130.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0005others(1): Show | a0001c0001t0001g0139 a0001c0001t0001g0257 a0001c0001t0001g0264 others(3): Show |
6 | 356 | 0.0169 | -1 | c.*45 others(6): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3455 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89875513 | GT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(126): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0077 a0001c0001t0001g0086 others(126): Show |
129 | 356 | 0.3624 | -1 | c.*52 others(6): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 4195 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89875989 | CT | C | downstream_gene_variant | MODIFIER | HG03239.hp2 HG03669.hp2 HG03831.hp2 others(6): Show |
a0001 | a0001c0006a0001c0009a0001c0027 | a0001c0006t0001a0001c0009t0001a0001c0027t0001 | a0001c0006t0001g0007 a0001c0006t0001g0012 a0001c0006t0001g0013 others(6): Show |
9 | 356 | 0.0253 | -1 | c.*57 others(6): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 4671 | chr16 | TogoVar | |||||||
SPNS1_chr16_28969778_28989543 | 28971612 | AT | A | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02257.hp1 HG02280.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(15): Show |
38 | 398 | 0.0955 | -1 | c.-35 others(6): Show |
SPNS1 | ENSG00000169682.18 | transcript | ENST00000311008.16 | protein_coding | 3165 | chr16 | TogoVar | |||||||
SPNS1_chr16_28969778_28989543 | 28971984 | CT | C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01496.hp2 others(78): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0036 others(25): Show |
81 | 398 | 0.2035 | -1 | c.-31 others(6): Show |
SPNS1 | ENSG00000169682.18 | transcript | ENST00000311008.16 | protein_coding | 2793 | chr16 | TogoVar | |||||||
SPNS1_chr16_28969778_28989543 | 28972211 | AT | A | upstream_gene_variant | MODIFIER | HG02630.hp2 HG02723.hp2 HG03516.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0019 others(3): Show |
8 | 398 | 0.0201 | -1 | c.-29 others(6): Show |
SPNS1 | ENSG00000169682.18 | transcript | ENST00000311008.16 | protein_coding | 2566 | chr16 | TogoVar | |||||||
SPNS1_chr16_28969778_28989543 | 28973481 | GA | G | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02257.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 others(16): Show |
56 | 398 | 0.1407 | -1 | c.-16 others(6): Show |
SPNS1 | ENSG00000169682.18 | transcript | ENST00000311008.16 | protein_coding | 1296 | chr16 | TogoVar | |||||||
SPNS1_chr16_28969778_28989543 | 28973784 | TG | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00733.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(14): Show |
36 | 398 | 0.0905 | -1 | c.-13 others(6): Show |
SPNS1 | ENSG00000169682.18 | transcript | ENST00000311008.16 | protein_coding | 993 | chr16 | TogoVar | |||||||
SPNS1_chr16_28969778_28989543 | 28976575 | AT | A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG02074.hp2 others(16): Show |
a0001a0005 | a0001c0002a0005c0014 | a0001c0002t0001a0005c0014t0001 | a0001c0002t0001g0009 a0001c0002t0001g0026 a0001c0002t0001g0040 others(5): Show |
19 | 398 | 0.0477 | -1 | c.307 others(9): Show |
SPNS1 | ENSG00000169682.18 | transcript | ENST00000311008.16 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
SPNS1_chr16_28969778_28989543 | 28977312 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(242): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(56): Show |
245 | 398 | 0.6156 | -1 | c.308 others(8): Show |
SPNS1 | ENSG00000169682.18 | transcript | ENST00000311008.16 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPNS1_chr16_28969778_28989543 | 28980022 | CA | C | intron_variant | MODIFIER | HG01257.hp1 HG01257.hp2 HG03490.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 others(2): Show |
7 | 398 | 0.0176 | -1 | c.663 others(8): Show |
SPNS1 | ENSG00000169682.18 | transcript | ENST00000311008.16 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPNS1_chr16_28969778_28989543 | 28980299 | AT | A | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02486.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 others(7): Show |
31 | 398 | 0.0779 | -1 | c.663 others(8): Show |
SPNS1 | ENSG00000169682.18 | transcript | ENST00000311008.16 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPNS1_chr16_28969778_28989543 | 28982328 | AC | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(207): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 others(54): Show |
210 | 398 | 0.5276 | -1 | c.966 others(7): Show |
SPNS1 | ENSG00000169682.18 | transcript | ENST00000311008.16 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPNS1_chr16_28969778_28989543 | 28987926 | TA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG01257.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(14): Show |
40 | 398 | 0.1005 | -1 | c.*36 others(6): Show |
SPNS1 | ENSG00000169682.18 | transcript | ENST00000311008.16 | protein_coding | 3384 | chr16 | TogoVar | |||||||
SPNS1_chr16_28969778_28989543 | 28988091 | TA | T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01081.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 others(6): Show |
15 | 398 | 0.0377 | -1 | c.*37 others(6): Show |
SPNS1 | ENSG00000169682.18 | transcript | ENST00000311008.16 | protein_coding | 3549 | chr16 | TogoVar | |||||||
SPNS2_chr17_4493881_4544035 | 4494255 | AT | A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG00738.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0025 others(18): Show |
22 | 404 | 0.0545 | -1 | c.-47 others(6): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 4625 | chr17 | TogoVar | |||||||
SPNS2_chr17_4493881_4544035 | 4502379 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(151): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 others(141): Show |
154 | 404 | 0.3812 | -1 | c.370 others(9): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS2_chr17_4493881_4544035 | 4512833 | TC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00639.hp1 others(24): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0195 a0001c0001t0001g0213 others(21): Show |
27 | 404 | 0.0668 | -1 | c.371 others(8): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS2_chr17_4493881_4544035 | 4516288 | TG | T | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG01261.hp1 others(7): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0209 others(7): Show |
10 | 404 | 0.0248 | -1 | c.436 others(9): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS2_chr17_4493881_4544035 | 4516316 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(81): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0065 others(72): Show |
84 | 404 | 0.2079 | -1 | c.436 others(9): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS2_chr17_4493881_4544035 | 4516343 | AC | A | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01175.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0209 others(13): Show |
16 | 404 | 0.0396 | -1 | c.436 others(9): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 2/12 | chr17 | TogoVar | |||||||
SPNS2_chr17_4493881_4544035 | 4527949 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(281): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(253): Show |
284 | 404 | 0.7030 | -1 | c.574 others(9): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS2_chr17_4493881_4544035 | 4532924 | AG | A | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0006a0001c0002t0011others(1): Show | a0001c0002t0004g0069 a0001c0002t0004g0071 a0001c0002t0004g0235 others(6): Show |
9 | 404 | 0.0223 | -1 | c.936 others(7): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS2_chr17_4493881_4544035 | 4539344 | TA | T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(136): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0041 a0001c0001t0001g0225 a0001c0001t0002g0010 others(129): Show |
139 | 404 | 0.3441 | -1 | c.*18 others(6): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 310 | chr17 | TogoVar | |||||||
SPNS2_chr17_4493881_4544035 | 4543886 | CT | C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0036 others(13): Show |
18 | 404 | 0.0446 | -1 | c.*64 others(6): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 4852 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4429395 | TC | T | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02451.hp1 NA18962.hp1 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0001a0001c0004t0001 | a0001c0001t0002g0037 a0001c0003t0001g0123 a0001c0004t0001g0071 |
3 | 362 | 0.0083 | -1 | c.-45 others(6): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 4544 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4429900 | CT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00597.hp2 others(87): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(15): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 others(87): Show |
90 | 362 | 0.2486 | -1 | c.-40 others(6): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 4039 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4430521 | CT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00597.hp2 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(12): Show | a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0113 others(55): Show |
58 | 362 | 0.1602 | -1 | c.-34 others(6): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 3418 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4431110 | CT | C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02630.hp1 HG02738.hp2 others(6): Show |
a0001a0004a0008 | a0001c0001a0004c0017a0008c0019 | a0001c0001t0001a0001c0001t0002a0004c0017t0002others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0002g0037 others(6): Show |
9 | 362 | 0.0249 | -1 | c.-28 others(6): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 2829 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4432045 | CT | C | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01515.hp2 HG02965.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0002a0001c0003t0001a0001c0007t0003others(5): Show | a0001c0001t0002g0205 a0001c0001t0002g0336 a0001c0003t0001g0126 others(8): Show |
11 | 362 | 0.0304 | -1 | c.-19 others(6): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 1894 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4432813 | AT | A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0009a0001c0012others(9): Show | a0001c0004t0001a0001c0009t0001a0001c0009t0002others(13): Show | a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0054 others(46): Show |
49 | 362 | 0.1354 | -1 | c.-11 others(6): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 1126 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4435161 | GC | G | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(23): Show |
a0001a0002a0009 | a0001c0004a0001c0009a0001c0023others(4): Show | a0001c0004t0001a0001c0009t0001a0001c0009t0002others(6): Show | a0001c0004t0001g0056 a0001c0004t0001g0064 a0001c0004t0001g0065 others(23): Show |
26 | 362 | 0.0718 | -1 | c.199 others(8): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4443077 | GT | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00597.hp2 others(101): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(30): Show | a0001c0001t0001g0044 a0001c0001t0001g0111 a0001c0001t0001g0149 others(101): Show |
104 | 362 | 0.2873 | -1 | c.266 others(9): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4447079 | GT | G | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG01891.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0002others(6): Show | a0001c0001t0001g0111 a0001c0001t0001g0332 a0001c0001t0001g0334 others(18): Show |
21 | 362 | 0.0580 | -1 | c.621 others(8): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 5/11 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4450762 | AT | A | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0002g0317 others(5): Show |
8 | 362 | 0.0221 | -1 | c.923 others(9): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4451264 | TC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(134): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(37): Show | a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0131 others(134): Show |
137 | 362 | 0.3785 | -1 | c.924 others(9): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4454610 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(120): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0027 others(119): Show |
123 | 362 | 0.3398 | -1 | c.111 others(10): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |