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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPNE4_chr3_131528569_132040014 | 131978061 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0078 others(1): Show |
4 | 94 | 0.0426 | 8 | c.-2+ others(25): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131978081 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02486.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 others(13): Show |
16 | 94 | 0.1702 | 8 | c.-2+ others(25): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131978302 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0051 |
2 | 94 | 0.0213 | 8 | c.-2+ others(25): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131978486 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | NA18990.hp1 NA19083.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0041 a0001c0001t0006g0003 a0001c0001t0007g0004 |
3 | 94 | 0.0319 | 8 | c.-2+ others(25): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131999241 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02486.hp1 HG02602.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0056 a0001c0001t0002g0072 a0001c0001t0002g0074 others(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 | 132001553 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02615.hp2 HG02683.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0052 others(10): Show |
13 | 94 | 0.1383 | 8 | c.-2+ others(25): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE5_chr6_36735775_36844444 | 36762304 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01891.hp1 others(19): Show |
a0001 | a0001c0002a0001c0003a0001c0008 | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(4): Show | a0001c0002t0001g0010 a0001c0002t0001g0190 a0001c0002t0001g0204 others(19): Show |
22 | 380 | 0.0579 | 8 | c.855 others(23): Show |
CPNE5 | ENSG00000124772.12 | transcript | ENST00000244751.7 | protein_coding | 12/20 | chr6 | TogoVar | |||||||
CPNE5_chr6_36735775_36844444 | 36782816 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02055.hp2 HG03540.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0101 a0001c0001t0001g0256 a0001c0001t0003g0279 others(3): Show |
6 | 380 | 0.0158 | 8 | c.529 others(25): Show |
CPNE5 | ENSG00000124772.12 | transcript | ENST00000244751.7 | protein_coding | 8/20 | chr6 | TogoVar | |||||||
CPNE5_chr6_36735775_36844444 | 36834233 | T | TGGGCAAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(76): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0079 others(76): Show |
79 | 380 | 0.2079 | 8 | c.95+ others(23): Show |
CPNE5 | ENSG00000124772.12 | transcript | ENST00000244751.7 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89598207 | C | CCTATCTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02723.hp2 others(11): Show |
a0001 | a0001c0007a0001c0023 | a0001c0007t0006a0001c0023t0001 | a0001c0007t0006g0064 a0001c0007t0006g0071 a0001c0007t0006g0157 others(11): Show |
14 | 348 | 0.0402 | 8 | c.*15 others(19): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 962 | chr16 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38710268 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG01070.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0003g0016 others(46): Show |
49 | 342 | 0.1433 | 8 | c.915 others(25): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 13/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38717427 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02976.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0112 others(7): Show |
10 | 342 | 0.0292 | 8 | c.914 others(25): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 13/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38717429 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG01255.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0003g0053 a0001c0001t0003g0136 a0001c0001t0003g0182 others(22): Show |
25 | 342 | 0.0731 | 8 | c.914 others(25): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 13/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38742673 | T | TATAAATA others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0103 a0001c0001t0007g0334 a0001c0001t0007g0335 others(3): Show |
6 | 342 | 0.0175 | 8 | c.723 others(27): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38742711 | T | TAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(134): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0233 others(134): Show |
137 | 342 | 0.4006 | 8 | c.723 others(27): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38756039 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00735.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0251 a0001c0001t0002g0276 a0001c0001t0004g0030 others(44): Show |
47 | 342 | 0.1374 | 8 | c.722 others(25): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38760435 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01167.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0025 others(19): Show |
22 | 342 | 0.0643 | 8 | c.722 others(23): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38772928 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03017.hp2 HG03239.hp1 |
a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0001 a0001c0003t0011g0002 a0001c0003t0011g0003 |
3 | 342 | 0.0088 | 8 | c.471 others(25): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 7/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38795867 | G | GGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00642.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0097 others(31): Show |
34 | 342 | 0.0994 | 8 | c.408 others(27): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 6/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38902296 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01256.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0104 others(25): Show |
28 | 342 | 0.0819 | 8 | c.98+ others(23): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38902315 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 NA19084.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 |
3 | 342 | 0.0088 | 8 | c.98+ others(23): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38902315 | G | GGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02040.hp2 HG04228.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008a0001c0002t0010 | a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0069 others(3): Show |
6 | 342 | 0.0175 | 8 | c.98+ others(23): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CPNE9_chr3_9698833_9734908 | 9714072 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0156 others(4): Show |
7 | 440 | 0.0159 | 8 | c.651 others(23): Show |
CPNE9 | ENSG00000144550.14 | transcript | ENST00000383832.8 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CPNE9_chr3_9698833_9734908 | 9717670 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00741.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0051 a0001c0001t0001g0070 others(32): Show |
36 | 440 | 0.0818 | 8 | c.932 others(23): Show |
CPNE9 | ENSG00000144550.14 | transcript | ENST00000383832.8 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CPNE9_chr3_9698833_9734908 | 9725674 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02965.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0073 a0001c0001t0001g0364 |
3 | 440 | 0.0068 | 8 | c.124 others(25): Show |
CPNE9 | ENSG00000144550.14 | transcript | ENST00000383832.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CPOX_chr3_98574446_98598611 | 98576720 | A | ACAATACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 3 | 448 | 0.0067 | 8 | c.*39 others(19): Show |
CPOX | ENSG00000080819.9 | transcript | ENST00000647941.2 | protein_coding | 2725 | chr3 | TogoVar | |||||||
CPO_chr2_206934518_206974474 | 206943674 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01517.hp1 HG01978.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0003t0001 | a0001c0001t0001g0139 a0001c0001t0001g0180 a0001c0001t0001g0181 others(6): Show |
9 | 422 | 0.0213 | 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 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02300.hp1 NA18946.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0170 a0001c0001t0001g0183 others(1): Show |
4 | 422 | 0.0095 | 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 | 12697382 | C | CCATCCCC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(246): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0002a0002c0006others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(92): Show | a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0164 others(245): Show |
249 | 290 | 0.8586 | 8 | c.715 others(25): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12732499 | G | GAGAGAGG others(1): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02647.hp1 HG02886.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0003a0002c0002t0008 | a0001c0001t0005g0267 a0002c0002t0003g0057 a0002c0002t0008g0047 others(1): Show |
4 | 290 | 0.0138 | 8 | c.290 others(27): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12747432 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02129.hp1 HG02257.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(7): Show | a0001c0001t0001g0240 a0001c0001t0005g0238 a0001c0001t0008g0227 others(8): Show |
11 | 290 | 0.0379 | 8 | c.289 others(27): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 96717024 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02809.hp1 NA18945.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0001a0001c0004t0001a0002c0003t0001 | a0001c0002t0001g0066 a0001c0002t0001g0086 a0001c0002t0001g0093 others(3): Show |
6 | 126 | 0.0476 | 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 | 96724490 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0041 |
2 | 126 | 0.0159 | 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 | 96730866 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02647.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0120 a0001c0008t0001g0116 |
2 | 126 | 0.0159 | 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 | 96787525 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01517.hp1 others(15): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0031 others(15): Show |
18 | 126 | 0.1429 | 8 | c.433 others(25): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96850584 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG03453.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0009 a0001c0002t0001g0058 a0001c0002t0001g0065 others(6): Show |
9 | 126 | 0.0714 | 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 | 96908747 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01261.hp1 HG01261.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0042 others(12): Show |
15 | 126 | 0.1191 | 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 | 96908747 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG02040.hp1 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0104 a0001c0002t0001g0049 others(14): Show |
17 | 126 | 0.1349 | 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 | 97078763 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01978.hp2 NA18962.hp1 NA19009.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0056 a0001c0001t0001g0109 a0001c0002t0001g0113 |
3 | 126 | 0.0238 | 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 | 210554836 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG04115.hp1 NA18994.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0002g0026 a0001c0001t0006g0037 a0001c0001t0010g0045 others(1): Show |
4 | 340 | 0.0118 | 8 | c.-18 others(19): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1762 | chr2 | TogoVar | |||||||
CPS1_chr2_210551599_210684107 | 210591041 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03225.hp1 NA21309.hp1 |
a0001a0003 | a0001c0030a0001c0032a0003c0031 | a0001c0030t0007a0001c0032t0026a0003c0031t0002 | a0001c0030t0007g0074 a0001c0032t0026g0012 a0003c0031t0002g0014 |
3 | 340 | 0.0088 | 8 | c.947 others(23): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CPS1_chr2_210551599_210684107 | 210668076 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01192.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0007a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0007g0249 a0002c0002t0001g0172 a0002c0002t0002g0244 others(8): Show |
12 | 340 | 0.0353 | 8 | c.400 others(23): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92168248 | C | CAAAAAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(101): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(45): Show | a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0025 others(95): Show |
104 | 388 | 0.2680 | 8 | c.*65 others(19): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 16/16 | 6523 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CPSF2_chr14_92116969_92177145 | 92173330 | T | TATACATA others(1): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG01256.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017a0001c0001t0126 | a0001c0001t0005g0002 a0001c0001t0017g0002 a0001c0001t0126g0002 |
5 | 388 | 0.0129 | 8 | c.*11 others(21): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1186 | chr14 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92173425 | A | ATATATGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG01167.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0012others(20): Show | a0001c0001t0005g0002 a0001c0001t0005g0040 a0001c0001t0005g0041 others(37): Show |
49 | 388 | 0.1263 | 8 | c.*11 others(21): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1281 | chr14 | TogoVar | |||||||
CPSF3_chr2_9418654_9478101 | 9457147 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03195.hp1 HG03540.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0081 a0001c0001t0001g0145 a0001c0002t0001g0151 others(2): Show |
5 | 230 | 0.0217 | 8 | c.169 others(25): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99440655 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03041.hp2 HG03130.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0003t0002g0096 |
3 | 364 | 0.0082 | 8 | c.103 others(25): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99446771 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02615.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0007a0001c0002t0002others(1): Show | a0001c0001t0002g0044 a0001c0001t0007g0140 a0001c0002t0002g0112 others(3): Show |
6 | 364 | 0.0165 | 8 | c.155 others(25): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99457842 | C | CATCCGAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01175.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0002others(1): Show | a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 others(34): Show |
37 | 364 | 0.1017 | 8 | c.*13 others(19): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 470 | chr7 | TogoVar | |||||||
CPSF6_chr12_69234569_69279358 | 69272869 | A | AGTGTGTG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG01978.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0043a0001c0001t0051others(1): Show | a0001c0001t0023g0010 a0001c0001t0043g0022 a0001c0001t0051g0175 others(1): Show |
7 | 392 | 0.0179 | 8 | c.*33 others(19): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 10/10 | 10339 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |