regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPNE4_chr3_131528569_132040014 | 131547455 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG02922.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0032a0001c0001t0001g0041a0001c0001t0001g0050others(6): Show | 9 | 94 | 0.0957 | -8 | c.130 others(27): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 14/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131570307 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG02647.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0060a0001c0001t0013g0017 | 2 | 94 | 0.0213 | -8 | c.927 others(25): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131586722 | CTCTATCT others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02258.hp1 HG02615.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0021a0001c0001t0001g0023a0001c0001t0002g0070others(9): Show | 12 | 94 | 0.1277 | -8 | c.780 others(23): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 8/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131586726 | ATCTGTCT others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01169.hp1 HG02257.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0005a0001c0001t0009a0001c0005t0004others(1): Show | a0001c0001t0005g0073a0001c0001t0009g0067a0001c0005t0004g0024others(2): Show | 5 | 94 | 0.0532 | -8 | c.780 others(23): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 8/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131596621 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0022a0001c0001t0002g0078a0001c0003t0002g0071others(2): Show | 5 | 94 | 0.0532 | -8 | c.682 others(25): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 7/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131657704 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG03098.hp2 NA18960.hp2 NA18966.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0002t0001a0001c0003t0002 | a0001c0001t0008g0064a0001c0002t0001g0030a0001c0003t0002g0071 | 3 | 94 | 0.0319 | -8 | c.681 others(27): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 7/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131708957 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0003t0001a0001c0005t0015 | a0001c0001t0002g0069a0001c0003t0001g0044a0001c0005t0015g0091 | 3 | 94 | 0.0319 | -8 | c.361 others(25): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131761151 | GAAGAGGG others(1): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01081.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0015others(64): Show | 67 | 94 | 0.7128 | -8 | c.181 others(27): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131792694 | TACATATA others(1): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG03209.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0012a0001c0004t0001 | a0001c0002t0001g0013a0001c0002t0012g0025a0001c0004t0001g0055 | 3 | 94 | 0.0319 | -8 | c.181 others(27): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131799919 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp1 HG02257.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0010a0001c0001t0001g0027a0001c0001t0001g0036others(16): Show | 19 | 94 | 0.2021 | -8 | c.181 others(27): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131801448 | GTGTGTAT others(1): Show |
G | intron_variant | MODIFIER | HG02451.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0074a0001c0002t0001g0006 | 2 | 94 | 0.0213 | -8 | c.181 others(27): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131861402 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01081.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0021a0001c0001t0001g0047others(16): Show | 19 | 94 | 0.2021 | -8 | c.180 others(27): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131876239 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp1 HG01496.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0042a0001c0001t0001g0047a0001c0001t0001g0050others(20): Show | 23 | 94 | 0.2447 | -8 | c.180 others(27): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131911543 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02572.hp1 NA18982.hp1 NA19240.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0002 | a0001c0003t0001g0019a0001c0003t0001g0033a0001c0004t0002g0081 | 3 | 94 | 0.0319 | -8 | c.-1- others(23): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131942463 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02559.hp2 HG03239.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0040a0001c0001t0002g0075a0001c0001t0002g0083others(1): Show | 4 | 94 | 0.0426 | -8 | c.-1- others(25): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 132001553 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02451.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0002g0088others(4): Show | 7 | 94 | 0.0745 | -8 | c.-2+ others(25): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 132005342 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp1 HG01169.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0054others(6): Show | 9 | 94 | 0.0957 | -8 | c.-2+ others(25): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 132026824 | TGCCTTAT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG03516.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0011a0001c0002t0011others(1): Show | a0001c0001t0001g0011a0001c0001t0011g0093a0001c0002t0011g0094others(1): Show | 4 | 94 | 0.0426 | -8 | c.-2+ others(23): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE5_chr6_36735775_36844444 | 36777762 | CCCACCAC others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00609.hp1 others(66): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0014others(66): Show | 69 | 380 | 0.1816 | -8 | c.632 others(25): Show |
CPNE5 | ENSG00000124772.12 | transcript | ENST00000244751.7 | protein_coding | 9/20 | chr6 | TogoVar | ||||||
CPNE5_chr6_36735775_36844444 | 36777766 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG03927.hp1 NA18983.hp2 NA19054.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(1): Show | a0001c0001t0001g0110a0001c0001t0004g0006a0001c0003t0002g0092others(1): Show | 4 | 380 | 0.0105 | -8 | c.632 others(25): Show |
CPNE5 | ENSG00000124772.12 | transcript | ENST00000244751.7 | protein_coding | 9/20 | chr6 | TogoVar | ||||||
CPNE5_chr6_36735775_36844444 | 36782816 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02015.hp2 HG02109.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0001g0176a0001c0001t0001g0312a0001c0001t0005g0268others(5): Show | 8 | 380 | 0.0211 | -8 | c.529 others(25): Show |
CPNE5 | ENSG00000124772.12 | transcript | ENST00000244751.7 | protein_coding | 8/20 | chr6 | TogoVar | ||||||
CPNE5_chr6_36735775_36844444 | 36802217 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02922.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0006 | a0001c0001t0001g0050a0001c0001t0001g0059a0001c0001t0001g0061others(3): Show | 6 | 380 | 0.0158 | -8 | c.184 others(25): Show |
CPNE5 | ENSG00000124772.12 | transcript | ENST00000244751.7 | protein_coding | 3/20 | chr6 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89594642 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(96): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(14): Show | a0001c0001t0001g0269a0001c0002t0001g0287a0001c0002t0001g0322others(90): Show | 99 | 348 | 0.2845 | -8 | c.130 others(25): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE8_chr12_38647203_38910591 | 38882147 | GAGATGAG others(1): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02818.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0002c0005t0001g0023 | 3 | 342 | 0.0088 | -8 | c.99- others(23): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38894658 | ACTCTCTC others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01257.hp1 HG01258.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0084others(21): Show | 24 | 342 | 0.0702 | -8 | c.98+ others(25): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38902315 | GGAAAGAA others(1): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01358.hp2 HG01361.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0166a0001c0001t0003g0188a0001c0001t0003g0189others(18): Show | 21 | 342 | 0.0614 | -8 | c.98+ others(23): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
CPNE9_chr3_9698833_9734908 | 9724719 | CCTATCTA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(147): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(128): Show | 150 | 440 | 0.3409 | -8 | c.124 others(27): Show |
CPNE9 | ENSG00000144550.14 | transcript | ENST00000383832.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPOX_chr3_98574446_98598611 | 98586946 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG01952.hp2 HG02280.hp1 HG02280.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0044a0001c0001t0001g0079a0001c0001t0001g0081others(2): Show | 6 | 448 | 0.0134 | -8 | c.954 others(25): Show |
CPOX | ENSG00000080819.9 | transcript | ENST00000647941.2 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
CPO_chr2_206934518_206974474 | 206943674 | TGATAGAT others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02258.hp1 HG02698.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0008 | a0001c0001t0001a0002c0003t0001a0002c0008t0001 | a0001c0001t0001g0055a0001c0001t0001g0179a0001c0001t0001g0246others(4): Show | 7 | 422 | 0.0166 | -8 | c.68+ others(23): Show |
CPO | ENSG00000144410.5 | transcript | ENST00000272852.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CPO_chr2_206934518_206974474 | 206943728 | TGATAGAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp1 others(56): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(7): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0026a0001c0001t0001g0148a0001c0001t0001g0179others(50): Show | 59 | 422 | 0.1398 | -8 | c.68+ others(23): Show |
CPO | ENSG00000144410.5 | transcript | ENST00000272852.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CPPED1_chr16_12654799_12808887 | 12732475 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00609.hp2 others(38): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0055others(16): Show | a0001c0001t0001g0192a0001c0001t0001g0235a0001c0001t0001g0249others(37): Show | 41 | 290 | 0.1414 | -8 | c.290 others(27): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
CPPED1_chr16_12654799_12808887 | 12744293 | AGAGAAAG others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02615.hp1 others(5): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0011a0002c0002t0023a0002c0002t0060others(3): Show | a0002c0002t0011g0080a0002c0002t0023g0069a0002c0002t0023g0071others(5): Show | 8 | 290 | 0.0276 | -8 | c.289 others(27): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
CPPED1_chr16_12654799_12808887 | 12747432 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01358.hp1 HG01975.hp2 others(27): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0138a0001c0001t0001g0155a0001c0001t0001g0165others(27): Show | 30 | 290 | 0.1035 | -8 | c.289 others(27): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
CPPED1_chr16_12654799_12808887 | 12766269 | AGAGAGAG others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02717.hp1 HG06807.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0029a0003c0003t0007 | a0001c0001t0005g0247a0001c0001t0029g0245a0003c0003t0007g0246 | 3 | 290 | 0.0103 | -8 | c.289 others(27): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
CPPED1_chr16_12654799_12808887 | 12799243 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00673.hp1 others(105): Show |
a0002a0004a0013others(4): Show | a0002c0002a0002c0006a0004c0004others(5): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(46): Show | a0002c0002t0001g0009a0002c0002t0001g0018a0002c0002t0001g0020others(104): Show | 108 | 290 | 0.3724 | -8 | c.70+ others(23): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96707663 | TAATGAAT others(1): Show |
T | intron_variant | MODIFIER | HG02040.hp2 HG03927.hp1 HG04184.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0108a0001c0001t0001g0110a0001c0001t0001g0112others(7): Show | 10 | 126 | 0.0794 | -8 | c.-35 others(27): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96717024 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01975.hp2 HG02630.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0020a0001c0001t0002g0024a0001c0001t0002g0100others(1): Show | 4 | 126 | 0.0318 | -8 | c.-34 others(27): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96850584 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0069 | 3 | 126 | 0.0238 | -8 | c.641 others(27): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96880518 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00733.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063a0001c0001t0001g0117 | 2 | 126 | 0.0159 | -8 | c.849 others(23): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96908107 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG02647.hp1 HG02717.hp1 others(2): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(2): Show | a0001c0001t0001g0026a0001c0002t0001g0123a0001c0007t0001g0038others(2): Show | 5 | 126 | 0.0397 | -8 | c.849 others(27): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96964173 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG03195.hp1 |
a0003a0008 | a0003c0005a0008c0011 | a0003c0005t0001a0008c0011t0002 | a0003c0005t0001g0007a0003c0005t0001g0068a0008c0011t0002g0037 | 3 | 126 | 0.0238 | -8 | c.850 others(25): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 97078763 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG03195.hp1 HG03516.hp1 others(2): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0011 | a0001c0001t0001a0001c0002t0001a0008c0011t0002 | a0001c0001t0001g0026a0001c0001t0001g0028a0001c0002t0001g0079others(2): Show | 5 | 126 | 0.0397 | -8 | c.125 others(29): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 97101935 | TCTCTCTC others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01884.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0023a0001c0001t0001g0041others(1): Show | 4 | 126 | 0.0318 | -8 | c.125 others(29): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPS1_chr2_210551599_210684107 | 210571855 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01884.hp1 HG02717.hp2 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0014a0002c0002t0001a0002c0005t0003others(3): Show | a0001c0001t0014g0153a0002c0002t0001g0170a0002c0005t0003g0136others(5): Show | 8 | 340 | 0.0235 | -8 | c.127 others(25): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CPS1_chr2_210551599_210684107 | 210575516 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(54): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0094others(54): Show | 57 | 340 | 0.1677 | -8 | c.237 others(23): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CPS1_chr2_210551599_210684107 | 210683123 | AGTGCAGT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(133): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(29): Show | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0094others(132): Show | 136 | 340 | 0.4000 | -8 | c.*51 others(19): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4017 | chr2 | TogoVar | ||||||
CPSF1_chr8_144388231_144414335 | 144393380 | AGGGTGGG others(1): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03041.hp1 NA20129.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0032a0001c0005t0001g0166 | 3 | 350 | 0.0086 | -8 | c.428 others(23): Show |
CPSF1 | ENSG00000071894.17 | transcript | ENST00000616140.2 | protein_coding | 37/37 | chr8 | TogoVar | ||||||
CPSF3_chr2_9418654_9478101 | 9430423 | CAGGGAGA others(1): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0163a0001c0002t0001g0164a0001c0002t0001g0165others(1): Show | 4 | 230 | 0.0174 | -8 | c.213 others(23): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CPSF4L_chr17_73243449_73266880 | 73265179 | AAAACAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02080.hp2 NA18953.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0002g0002 | 3 | 398 | 0.0075 | -8 | c.-33 others(19): Show |
CPSF4L | ENSG00000187959.9 | transcript | ENST00000344935.8 | protein_coding | 3300 | chr17 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99440655 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0309a0001c0001t0004g0310a0001c0001t0004g0311others(1): Show | 4 | 364 | 0.0110 | -8 | c.103 others(25): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |