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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNRNP200_chr2_96269338_96310546 | 96280848 | C | CT | intron_variant | MODIFIER | HG00621.hp2 HG01106.hp1 HG01175.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0087 others(22): Show |
30 | 352 | 0.0852 | 1 | c.502 others(9): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 35/44 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96281163 | C | CT | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01175.hp1 others(14): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0134 a0001c0002t0001g0060 a0001c0002t0001g0115 others(12): Show |
17 | 352 | 0.0483 | 1 | c.502 others(9): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 35/44 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96284749 | C | CT | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00733.hp1 others(127): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(12): Show | a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0046 others(72): Show |
130 | 352 | 0.3693 | 1 | c.416 others(9): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 30/44 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96286725 | A | AG | frameshift_variant | HIGH | NA19062.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0139 | 1 | 352 | 0.0028 | 1 | c.379 others(5): Show |
p.Gln others(6): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 28/45 | 3900/7194 | 3791/6411 | 1264/2136 | chr2 | TogoVar | |||
SNRNP200_chr2_96269338_96310546 | 96294132 | C | CA | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02056.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0053 others(8): Show |
13 | 352 | 0.0369 | 1 | c.184 others(9): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 14/44 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96294437 | T | TA | intron_variant | MODIFIER | HG00733.hp1 HG01070.hp2 HG01071.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0013 a0001c0003t0001g0045 a0001c0003t0001g0169 |
8 | 352 | 0.0227 | 1 | c.184 others(9): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 14/44 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96294678 | C | CA | intron_variant | MODIFIER | HG00673.hp1 NA18939.hp2 NA18946.hp2 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0023 a0001c0006t0001g0180 a0001c0006t0001g0181 others(2): Show |
7 | 352 | 0.0199 | 1 | c.184 others(9): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 14/44 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96298033 | A | AC | intron_variant | MODIFIER | HG02922.hp2 NA19043.hp2 NA19240.hp1 |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0190 a0001c0007t0004g0191 a0001c0007t0004g0192 |
3 | 352 | 0.0085 | 1 | c.111 others(9): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 9/44 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96300762 | C | CA | intron_variant | MODIFIER | HG00673.hp1 HG01256.hp2 NA18939.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0002t0001g0126 others(7): Show |
12 | 352 | 0.0341 | 1 | c.630 others(8): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 5/44 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96303888 | C | CA | intron_variant | MODIFIER | HG00673.hp1 HG01071.hp2 HG01081.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0188 a0001c0002t0001g0019 a0001c0002t0001g0185 others(9): Show |
17 | 352 | 0.0483 | 1 | c.210 others(8): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 2/44 | chr2 | TogoVar | |||||||
SNRNP200_chr2_96269338_96310546 | 96308247 | C | CT | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG02056.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0048 others(6): Show |
13 | 352 | 0.0369 | 1 | c.-28 others(6): Show |
SNRNP200 | ENSG00000144028.15 | transcript | ENST00000323853.10 | protein_coding | 2702 | chr2 | TogoVar | |||||||
SNRNP25_chr16_48828_62669 | 49492 | A | AT | upstream_gene_variant | MODIFIER | HG00639.hp2 HG03041.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0010 |
6 | 424 | 0.0142 | 1 | c.-45 others(12): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 4335 | chr16 | TogoVar | |||||||
SNRNP25_chr16_48828_62669 | 49640 | G | GT | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01123.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0014 others(9): Show |
38 | 424 | 0.0896 | 1 | c.-43 others(12): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 4187 | chr16 | TogoVar | |||||||
SNRNP25_chr16_48828_62669 | 52019 | C | CA | upstream_gene_variant | MODIFIER | HG01928.hp1 HG01978.hp2 HG01993.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0041 others(5): Show |
12 | 424 | 0.0283 | 1 | c.-19 others(12): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 1808 | chr16 | TogoVar | |||||||
SNRNP25_chr16_48828_62669 | 52446 | C | CA | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0002 a0001c0001t0014g0002 |
9 | 424 | 0.0212 | 1 | c.-15 others(12): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 1381 | chr16 | TogoVar | |||||||
SNRNP25_chr16_48828_62669 | 52765 | C | CA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG01346.hp2 others(32): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0009a0002c0003t0002 | a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0009g0017 others(1): Show |
35 | 424 | 0.0826 | 1 | c.-12 others(12): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 1062 | chr16 | TogoVar | |||||||
SNRNP25_chr16_48828_62669 | 53449 | C | CG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(419): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(55): Show |
422 | 424 | 0.9953 | 1 | c.-56 others(10): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 378 | chr16 | TogoVar | |||||||
SNRNP25_chr16_48828_62669 | 54099 | C | CG | intron_variant | MODIFIER | HG00738.hp2 HG02258.hp1 HG02280.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0003g0020 a0001c0001t0006g0005 a0001c0001t0007g0005 others(5): Show |
14 | 424 | 0.0330 | 1 | c.42+ others(6): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNRNP25_chr16_48828_62669 | 54869 | C | CG | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0030 |
7 | 424 | 0.0165 | 1 | c.43- others(7): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNRNP25_chr16_48828_62669 | 56952 | G | GC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(420): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(55): Show |
423 | 424 | 0.9976 | 1 | c.315 others(8): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNRNP27_chr2_69888956_69910236 | 69889977 | C | CT | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG02145.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0044 others(4): Show |
12 | 440 | 0.0273 | 1 | c.-40 others(12): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 3978 | chr2 | TogoVar | |||||||
SNRNP27_chr2_69888956_69910236 | 69891672 | C | CT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG00642.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0019 others(22): Show |
41 | 440 | 0.0932 | 1 | c.-23 others(12): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 2283 | chr2 | TogoVar | |||||||
SNRNP27_chr2_69888956_69910236 | 69892185 | C | CT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(229): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0036 others(90): Show |
232 | 440 | 0.5273 | 1 | c.-18 others(12): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 1770 | chr2 | TogoVar | |||||||
SNRNP27_chr2_69888956_69910236 | 69893994 | A | AG | frameshift_variant | HIGH | NA19072.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 1 | 440 | 0.0023 | 1 | c.11d others(3): Show |
p.Ser others(3): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 1/6 | 41/1425 | 12/468 | 4/155 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SNRNP27_chr2_69888956_69910236 | 69896676 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(152): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0063 a0001c0001t0001g0128 others(66): Show |
155 | 440 | 0.3523 | 1 | c.268 others(8): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNRNP27_chr2_69888956_69910236 | 69897137 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(320): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0036 others(130): Show |
323 | 440 | 0.7341 | 1 | c.269 others(8): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNRNP27_chr2_69888956_69910236 | 69898412 | G | GT | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0104 others(1): Show |
4 | 440 | 0.0091 | 1 | c.348 others(8): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNRNP27_chr2_69888956_69910236 | 69899984 | A | AT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(93): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0036 a0001c0001t0002g0037 a0001c0001t0002g0100 others(30): Show |
96 | 440 | 0.2182 | 1 | c.348 others(9): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNRNP27_chr2_69888956_69910236 | 69901172 | C | CA | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02523.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0063 a0001c0001t0002g0024 others(5): Show |
15 | 440 | 0.0341 | 1 | c.349 others(9): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNRNP27_chr2_69888956_69910236 | 69902938 | C | CT | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG01109.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0045 others(28): Show |
51 | 440 | 0.1159 | 1 | c.349 others(8): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNRNP27_chr2_69888956_69910236 | 69904188 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(160): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0104 others(78): Show |
163 | 440 | 0.3705 | 1 | c.414 others(7): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNRNP27_chr2_69888956_69910236 | 69904822 | G | GC | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0005g0001 a0001c0001t0005g0003 a0001c0001t0005g0006 others(33): Show |
58 | 440 | 0.1318 | 1 | c.*52 others(5): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 6/6 | 524 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNRNP27_chr2_69888956_69910236 | 69906559 | C | CT | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01256.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0045 others(5): Show |
11 | 440 | 0.0250 | 1 | c.*22 others(12): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 1324 | chr2 | TogoVar | |||||||
SNRNP27_chr2_69888956_69910236 | 69906728 | A | AT | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG01109.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(23): Show |
38 | 440 | 0.0864 | 1 | c.*24 others(12): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 1493 | chr2 | TogoVar | |||||||
SNRNP27_chr2_69888956_69910236 | 69908286 | C | CT | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02965.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 a0001c0001t0004g0052 a0001c0001t0004g0054 |
3 | 440 | 0.0068 | 1 | c.*39 others(12): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 3051 | chr2 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453854 | A | AT | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02280.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0052 a0001c0001t0002g0005 a0001c0001t0002g0066 others(10): Show |
13 | 186 | 0.0699 | 1 | c.-43 others(12): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4284 | chr12 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453874 | T | TC | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG02647.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0001c0001t0009a0002c0004t0009 | a0001c0001t0004g0090 a0001c0001t0009g0112 a0002c0004t0009g0106 |
3 | 186 | 0.0161 | 1 | c.-43 others(12): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4264 | chr12 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123455990 | G | GA | upstream_gene_variant | MODIFIER | HG01978.hp2 NA18906.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0005 | a0001c0002t0004g0098 a0001c0003t0005g0069 |
2 | 186 | 0.0108 | 1 | c.-22 others(12): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 2148 | chr12 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123456070 | C | CT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01071.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0066 a0001c0001t0002g0078 a0001c0001t0002g0086 others(8): Show |
14 | 186 | 0.0753 | 1 | c.-21 others(12): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 2068 | chr12 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123457574 | C | CT | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01515.hp1 HG01517.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0003a0001c0002t0004a0001c0007t0003others(1): Show | a0001c0001t0003g0003 a0001c0001t0003g0101 a0001c0001t0003g0105 others(3): Show |
7 | 186 | 0.0376 | 1 | c.-64 others(10): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 564 | chr12 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123458592 | C | CT | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01081.hp1 others(63): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0061 others(46): Show |
66 | 186 | 0.3548 | 1 | c.-4+ others(7): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123460602 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0003t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(38): Show |
79 | 186 | 0.4247 | 1 | c.-4+ others(8): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123460956 | C | CT | intron_variant | MODIFIER | HG01099.hp1 HG01346.hp2 HG01891.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0011 a0001c0001t0002g0066 a0001c0001t0002g0080 others(18): Show |
27 | 186 | 0.1452 | 1 | c.-4+ others(8): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123460982 | T | TA | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01192.hp2 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0008t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 others(17): Show |
28 | 186 | 0.1505 | 1 | c.-4+ others(8): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123461282 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG01516.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0038 others(5): Show |
8 | 186 | 0.0430 | 1 | c.-4+ others(8): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123461722 | A | AT | intron_variant | MODIFIER | HG00738.hp2 HG01978.hp1 HG02055.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 others(9): Show |
12 | 186 | 0.0645 | 1 | c.-4+ others(8): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123463364 | G | GT | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 a0001c0001t0004g0065 a0001c0001t0004g0076 others(1): Show |
5 | 186 | 0.0269 | 1 | c.-3- others(8): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123463930 | A | AT | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01069.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 others(29): Show |
48 | 186 | 0.2581 | 1 | c.-3- others(8): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123464240 | G | GT | intron_variant | MODIFIER | HG01099.hp1 HG01433.hp1 HG01496.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0057 others(15): Show |
22 | 186 | 0.1183 | 1 | c.-3- others(8): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123466090 | C | CG | frameshift_variant | HIGH | HG00738.hp2 HG02055.hp1 HG02486.hp2 others(1): Show |
a0002 | a0002c0004a0002c0009 | a0002c0004t0001a0002c0004t0002a0002c0004t0009others(1): Show | a0002c0004t0001g0062 a0002c0004t0002g0079 a0002c0004t0009g0106 others(1): Show |
4 | 186 | 0.0215 | 1 | c.553 others(4): Show |
p.Glu others(5): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 2/2 | 635/1477 | 554/741 | 185/246 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |