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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CASZ1_chr1_10631604_10801646 | 10783246 | A | AGTGTGT | intron_variant | MODIFIER | HG02717.hp1 HG03471.hp1 |
a0002a0014 | a0002c0014a0014c0039 | a0002c0014t0039a0014c0039t0043 | a0002c0014t0039g0148a0014c0039t0043g0066 | 2 | 236 | 0.0085 | 6 | c.-23 others(27): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10785059 | C | CTTTCTG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(138): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(70): Show | a0001c0001t0001g0077a0001c0001t0001g0079a0001c0001t0001g0082others(138): Show | 141 | 236 | 0.5975 | 6 | c.-23 others(27): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10792314 | A | ACCCCTC | intron_variant | MODIFIER | HG00280.hp1 HG01928.hp2 HG03579.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(4): Show | a0001c0001t0001g0181a0001c0001t0001g0213a0001c0001t0006g0214others(6): Show | 9 | 236 | 0.0381 | 6 | c.-23 others(25): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
CATIP_chr2_218351857_218373094 | 218357259 | G | GTCTCTC | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp2 HG01361.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0036a0001c0001t0001g0149others(7): Show | 16 | 366 | 0.0437 | 6 | c.118 others(20): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CATSPER1_chr11_66011752_66031479 | 66027488 | A | ATTTTTT | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG02074.hp1 others(19): Show |
a0002a0004a0017 | a0002c0007a0004c0006a0017c0018 | a0002c0007t0003a0004c0006t0003a0017c0018t0003 | a0002c0007t0003g0040a0004c0006t0003g0012a0004c0006t0003g0013others(6): Show | 22 | 408 | 0.0539 | 6 | c.-11 others(17): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 1010 | chr11 | TogoVar | ||||||
CATSPER2_chr15_43623503_43653844 | 43627676 | T | TTGTGTG | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01891.hp1 HG02129.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0002g0188a0001c0001t0003g0116others(7): Show | 11 | 392 | 0.0281 | 6 | c.*30 others(17): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 826 | chr15 | TogoVar | ||||||
CATSPER2_chr15_43623503_43653844 | 43649321 | T | TGGGCCG | upstream_gene_variant | MODIFIER | HG00408.hp1 NA18953.hp1 NA19058.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007a0002c0002t0002g0145 | 4 | 392 | 0.0102 | 6 | c.-70 others(15): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 478 | chr15 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91586571 | A | AAGAGAG | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG00741.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021a0001c0001t0002g0026a0001c0001t0002g0040others(12): Show | 15 | 271 | 0.0554 | 6 | c.313 others(23): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 26/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91615885 | C | CTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(195): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(195): Show | 198 | 271 | 0.7306 | 6 | c.240 others(25): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 20/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91619861 | T | TTGTGTG | intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 NA18612.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0090a0001c0002t0001g0154a0001c0002t0002g0257 | 3 | 271 | 0.0111 | 6 | c.226 others(25): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 19/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91661524 | C | CATATAT | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG01069.hp2 others(64): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0030others(64): Show | 67 | 271 | 0.2472 | 6 | c.128 others(25): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 14/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91702675 | A | AACACAC | intron_variant | MODIFIER | HG01069.hp2 HG01081.hp2 HG01167.hp2 others(12): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0028a0001c0001t0001g0032a0001c0001t0001g0048others(12): Show | 15 | 271 | 0.0554 | 6 | c.616 others(23): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 7/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91709524 | C | CAAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG02572.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0027a0001c0001t0002g0026a0001c0001t0005g0005others(5): Show | 8 | 271 | 0.0295 | 6 | c.371 others(23): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 5/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91716712 | T | TACACAC | intron_variant | MODIFIER | HG01168.hp1 HG01168.hp2 HG02080.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0197others(8): Show | 11 | 271 | 0.0406 | 6 | c.370 others(23): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 5/26 | chr14 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5716259 | C | CATATAT | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01361.hp2 HG02040.hp2 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0191a0001c0001t0002g0226a0001c0001t0002g0311others(11): Show | 14 | 336 | 0.0417 | 6 | c.-44 others(17): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4377 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5731560 | G | GTTTTTT | intron_variant | MODIFIER | HG02809.hp1 HG02809.hp2 HG02818.hp1 others(5): Show |
a0011a0016a0017others(3): Show | a0011c0008a0016c0013a0017c0014others(3): Show | a0011c0008t0001a0016c0013t0001a0017c0014t0002others(3): Show | a0011c0008t0001g0012a0016c0013t0001g0009a0016c0013t0001g0015others(5): Show | 8 | 336 | 0.0238 | 6 | c.276 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5743606 | G | GAAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01071.hp2 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0054a0001c0001t0001g0062a0001c0001t0001g0063others(18): Show | 21 | 336 | 0.0625 | 6 | c.574 others(21): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5743702 | C | CTCTCTG | intron_variant | MODIFIER | HG00741.hp2 HG02486.hp2 HG02615.hp1 others(8): Show |
a0006a0008a0010others(5): Show | a0006c0007a0008c0009a0010c0011others(5): Show | a0006c0007t0001a0008c0009t0001a0010c0011t0001others(5): Show | a0006c0007t0001g0017a0008c0009t0001g0008a0008c0009t0001g0016others(8): Show | 11 | 336 | 0.0327 | 6 | c.574 others(21): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5772214 | A | ATTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02630.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0002a0002c0002t0001a0003c0004t0001others(2): Show | a0001c0001t0002g0064a0002c0002t0001g0092a0003c0004t0001g0148others(4): Show | 7 | 336 | 0.0208 | 6 | c.176 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5781378 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(118): Show |
a0001a0003a0004others(16): Show | a0001c0001a0003c0004a0003c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0003c0004t0001others(25): Show | a0001c0001t0001g0055a0001c0001t0001g0077a0001c0001t0001g0093others(118): Show | 121 | 336 | 0.3601 | 6 | c.*27 others(17): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 2645 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5781380 | T | TTTTTTC | downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG01891.hp1 others(21): Show |
a0001a0005a0006others(4): Show | a0001c0001a0001c0034a0005c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0034t0001others(7): Show | a0001c0001t0001g0060a0001c0001t0001g0078a0001c0001t0001g0082others(21): Show | 24 | 336 | 0.0714 | 6 | c.*27 others(17): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 2647 | chr19 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244528785 | C | CCACACA | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02451.hp2 others(5): Show |
a0001a0003a0011 | a0001c0001a0003c0005a0011c0017 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0110others(5): Show | 8 | 206 | 0.0388 | 6 | c.536 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244528787 | A | ACGCACG | intron_variant | MODIFIER | HG01261.hp2 HG02615.hp2 HG02895.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0002a0001c0007t0001 | a0001c0003t0002g0030a0001c0007t0001g0003a0001c0007t0001g0146 | 3 | 206 | 0.0146 | 6 | c.536 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244553602 | T | TACACAC | intron_variant | MODIFIER | HG02273.hp1 HG02622.hp1 HG02717.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0102others(15): Show | 18 | 206 | 0.0874 | 6 | c.102 others(23): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244557532 | C | CATATAT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG01109.hp2 others(21): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0021a0001c0001t0001g0035a0001c0001t0001g0040others(21): Show | 24 | 206 | 0.1165 | 6 | c.103 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244558765 | C | CTCTCCT | intron_variant | MODIFIER | HG02886.hp2 HG03540.hp1 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0084a0001c0006t0002g0085 | 2 | 206 | 0.0097 | 6 | c.103 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244578823 | C | CATATAT | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp1 HG01192.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0043a0001c0001t0001g0055a0001c0001t0001g0069others(36): Show | 39 | 206 | 0.1893 | 6 | c.195 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244621103 | T | TATTATA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(118): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0020others(118): Show | 121 | 206 | 0.5874 | 6 | c.264 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244621299 | A | ATATATC | intron_variant | MODIFIER | HG00280.hp1 HG01261.hp2 HG01884.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0033a0001c0001t0001g0096a0001c0001t0001g0097others(19): Show | 22 | 206 | 0.1068 | 6 | c.264 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244624128 | A | ATTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(77): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(17): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0021others(77): Show | 80 | 206 | 0.3884 | 6 | c.264 others(25): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERG_chr19_38330830_38375943 | 38333285 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01070.hp2 HG01361.hp2 others(30): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0004c0006others(3): Show | a0001c0001t0001a0002c0003t0001a0004c0006t0001others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0002c0003t0001g0029others(30): Show | 33 | 376 | 0.0878 | 6 | c.-26 others(17): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 2544 | chr19 | TogoVar | ||||||
CAT_chr11_34433934_34477060 | 34466780 | C | CAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp1 others(34): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004a0001c0002t0001g0023a0001c0002t0001g0024others(19): Show | 37 | 424 | 0.0873 | 6 | c.132 others(25): Show |
CAT | ENSG00000121691.7 | transcript | ENST00000241052.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116523183 | A | AAGAAAG | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0011a0001c0001t0006g0111 | 3 | 342 | 0.0088 | 6 | c.-18 others(17): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1852 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116526072 | C | CCGGGGA | intron_variant | MODIFIER | HG03098.hp2 HG03579.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0012a0001c0001t0006g0013a0001c0001t0006g0014others(1): Show | 4 | 342 | 0.0117 | 6 | c.31- others(19): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555520 | G | GAAAGAA | intron_variant | MODIFIER | HG01261.hp1 HG02886.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0054a0001c0001t0001g0305 | 3 | 342 | 0.0088 | 6 | c.196 others(23): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555542 | G | GAAAGAA | intron_variant | MODIFIER | HG01257.hp1 HG04115.hp2 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0031a0001c0001t0001g0052 | 3 | 342 | 0.0088 | 6 | c.196 others(23): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV2_chr7_116494738_116513541 | 116498910 | C | CCACACA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG02040.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0024 | a0001c0001t0003g0003a0001c0001t0003g0012a0001c0001t0024g0018 | 8 | 374 | 0.0214 | 6 | c.-87 others(15): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 827 | chr7 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42401707 | A | AAGAAAG | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp2 others(30): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0010others(27): Show | 33 | 338 | 0.0976 | 6 | c.*29 others(17): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 741 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42412560 | A | ATTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00642.hp2 others(75): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(67): Show | 78 | 338 | 0.2308 | 6 | c.472 others(23): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42413566 | G | GAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG01192.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0019others(18): Show | 27 | 338 | 0.0799 | 6 | c.472 others(23): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42419305 | G | GTTATTA | intron_variant | MODIFIER | NA18966.hp2 NA19062.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0082a0001c0001t0004g0133a0001c0001t0004g0134 | 3 | 338 | 0.0089 | 6 | c.471 others(23): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42419882 | C | CGTGTGT | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp1 HG01361.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0075a0001c0001t0001g0141a0001c0001t0003g0031others(18): Show | 24 | 338 | 0.0710 | 6 | c.471 others(23): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CAVIN3_chr11_6313946_6325501 | 6318727 | A | AAACAAC | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00733.hp1 others(20): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0010c0020others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0026a0002c0002t0001g0002others(3): Show | 23 | 426 | 0.0540 | 6 | c.*43 others(15): Show |
CAVIN3 | ENSG00000170955.10 | transcript | ENST00000303927.4 | protein_coding | 218 | chr11 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33501630 | C | CTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02630.hp2 HG03516.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0003g0126a0001c0001t0003g0128a0001c0001t0005g0136others(5): Show | 8 | 298 | 0.0269 | 6 | c.34+ others(23): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33547687 | A | ATGTGTG | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00735.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0159a0001c0001t0001g0195a0001c0001t0001g0225others(44): Show | 47 | 298 | 0.1577 | 6 | c.34+ others(23): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88922232 | A | ACTGACC | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0025a0001c0003t0001a0001c0003t0011others(1): Show | a0001c0001t0025g0099a0001c0003t0001g0085a0001c0003t0011g0007others(1): Show | 4 | 284 | 0.0141 | 6 | c.152 others(25): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67075197 | A | ATACGTG | intron_variant | MODIFIER | HG03654.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0192a0001c0001t0005g0193 | 2 | 212 | 0.0094 | 6 | c.400 others(23): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CBFB_chr16_67024149_67106058 | 67075197 | A | ATATGTG | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG00741.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0067others(18): Show | 21 | 212 | 0.0991 | 6 | c.400 others(23): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CBLB_chr3_105650461_105874012 | 105665404 | A | AATATAT | intron_variant | MODIFIER | HG00099.hp2 HG01433.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0174a0001c0001t0009g0184a0001c0001t0009g0185others(2): Show | 5 | 380 | 0.0132 | 6 | c.268 others(25): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105754523 | C | CAGAGAG | intron_variant | MODIFIER | HG02273.hp1 NA18985.hp2 NA19060.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0225a0001c0002t0002g0236a0001c0002t0002g0240others(1): Show | 4 | 380 | 0.0105 | 6 | c.567 others(23): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar |