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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARD8_chr19_48203086_48260912 | 48214769 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(65): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0013others(3): Show | a0001c0003t0003a0001c0003t0005a0001c0003t0006others(23): Show | a0001c0003t0003g0010a0001c0003t0003g0042a0001c0003t0003g0128others(60): Show | 68 | 362 | 0.1879 | -9 | c.134 others(26): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 13/13 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48247085 | AGGCCAAG others(2): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG02647.hp2 HG02717.hp1 others(3): Show |
a0001a0004 | a0001c0002a0001c0005a0004c0011 | a0001c0002t0007a0001c0005t0026a0004c0011t0008 | a0001c0002t0007g0118a0001c0002t0007g0119a0001c0005t0026g0120others(2): Show | 6 | 362 | 0.0166 | -9 | c.-44 others(26): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 3/13 | chr19 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202949516 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG01358.hp1 HG01981.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0001g0170a0001c0001t0001g0213a0001c0001t0001g0216others(12): Show | 15 | 334 | 0.0449 | -9 | c.307 others(26): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARHSP1_chr16_8847947_8874006 | 8849752 | GGCCCCTC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0006others(2): Show | a0001c0001t0001g0073a0001c0001t0001g0179a0001c0001t0001g0340others(15): Show | 18 | 470 | 0.0383 | -9 | c.*54 others(20): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3194 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8857263 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(155): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008others(138): Show | 158 | 470 | 0.3362 | -9 | c.281 others(26): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8861989 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01192.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(5): Show | a0001c0001t0002g0200a0001c0001t0002g0201a0001c0001t0002g0414others(14): Show | 18 | 470 | 0.0383 | -9 | c.-7- others(24): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CARM1_chr19_10866553_10928075 | 10871583 | AGCGGCAG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG02698.hp2 HG02738.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0023a0001c0002t0066 | a0001c0002t0023g0111a0001c0002t0023g0112a0001c0002t0023g0113others(1): Show | 4 | 354 | 0.0113 | -9 | c.-11 others(18): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 106 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
CARM1_chr19_10866553_10928075 | 10871589 | AGCGGCGG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01081.hp1 NA18952.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0047 | a0001c0001t0027g0164a0001c0001t0027g0295a0001c0001t0047g0273 | 3 | 354 | 0.0085 | -9 | c.-72 others(16): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 64 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
CARM1_chr19_10866553_10928075 | 10871631 | GGCGGCGG others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01069.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0001t0024a0001c0001t0030others(2): Show | a0001c0001t0008g0020a0001c0001t0008g0134a0001c0001t0008g0142others(13): Show | 16 | 354 | 0.0452 | -9 | c.-63 others(16): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 55 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
CARMIL1_chr6_25274374_25625530 | 25340777 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01074.hp2 others(21): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(13): Show | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0081others(21): Show | 24 | 186 | 0.1290 | -9 | c.138 others(28): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25354330 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(13): Show | a0001c0001t0001g0065a0001c0001t0001g0068a0001c0001t0001g0076others(19): Show | 22 | 186 | 0.1183 | -9 | c.139 others(28): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25390309 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG02717.hp2 |
a0001a0002 | a0001c0002a0001c0009a0002c0007 | a0001c0002t0011a0001c0009t0011a0002c0007t0006 | a0001c0002t0011g0029a0001c0009t0011g0031a0002c0007t0006g0091 | 3 | 186 | 0.0161 | -9 | c.139 others(28): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25390311 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01433.hp1 HG02738.hp1 others(6): Show |
a0001a0002a0005 | a0001c0004a0001c0006a0001c0012others(4): Show | a0001c0004t0004a0001c0006t0002a0001c0012t0006others(4): Show | a0001c0004t0004g0096a0001c0006t0002g0131a0001c0012t0006g0118others(6): Show | 9 | 186 | 0.0484 | -9 | c.139 others(28): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25619733 | CTTTTTTT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01109.hp2 others(14): Show |
a0001a0008 | a0001c0003a0001c0004a0001c0006others(3): Show | a0001c0003t0004a0001c0004t0004a0001c0004t0014others(5): Show | a0001c0003t0004g0022a0001c0003t0004g0092a0001c0004t0004g0023others(14): Show | 17 | 186 | 0.0914 | -9 | c.*17 others(18): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 37/37 | 170 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CARS2_chr13_110636417_110711116 | 110643097 | CAAACTAC others(2): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0018a0001c0003t0001g0234 | 3 | 372 | 0.0081 | -9 | c.141 others(26): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 13/14 | chr13 | TogoVar | ||||||
CASKIN2_chr17_75495261_75520537 | 75517101 | CGCCCTCC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(77): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0002a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0041a0001c0001t0001g0073a0001c0001t0001g0172others(40): Show | 80 | 414 | 0.1932 | -9 | c.-21 others(20): Show |
CASKIN2 | ENSG00000177303.10 | transcript | ENST00000321617.8 | protein_coding | 1565 | chr17 | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41517770 | TAGCAGCA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00735.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0012others(15): Show | 18 | 164 | 0.1098 | -9 | c.*26 others(20): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 27/27 | 2641 | chrX | TogoVar | |||||
CASK_chrX_41509934_41928554 | 41633053 | AAAAAATA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00735.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0012a0001c0001t0002g0020others(7): Show | 10 | 164 | 0.0610 | -9 | c.915 others(26): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 9/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41633056 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 NA18957.hp2 NA18973.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032a0001c0001t0002g0009a0001c0001t0002g0013others(4): Show | 7 | 164 | 0.0427 | -9 | c.915 others(26): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 9/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41822557 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01515.hp1 HG02074.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0002g0047others(4): Show | 7 | 164 | 0.0427 | -9 | c.172 others(28): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | ||||||
CASP4_chr11_104937866_104973574 | 104949330 | TTACTGTG others(2): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG02027.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0035others(6): Show | 20 | 358 | 0.0559 | -9 | c.781 others(24): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 5/8 | chr11 | TogoVar | ||||||
CASP4_chr11_104937866_104973574 | 104961465 | CTTGTCTG others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02717.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0064a0001c0001t0001g0161 | 9 | 358 | 0.0251 | -9 | c.8-6 others(22): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 1/8 | chr11 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687803 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01168.hp2 HG01433.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0008t0002others(1): Show | a0001c0001t0002g0012a0001c0001t0002g0242a0001c0001t0002g0243others(13): Show | 17 | 406 | 0.0419 | -9 | c.-1+ others(24): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74976531 | TCTCCTCC others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(121): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0002a0001c0001t0001g0081a0001c0001t0001g0083others(121): Show | 124 | 228 | 0.5439 | -9 | c.113 others(28): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASTOR2_chr7_74959705_75036528 | 74999601 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01175.hp1 HG01175.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(1): Show | a0001c0001t0001g0126a0001c0001t0001g0129a0001c0001t0001g0145others(4): Show | 7 | 228 | 0.0307 | -9 | c.114 others(26): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASZ1_chr1_10631604_10801646 | 10694584 | CCCGCCGC others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02622.hp2 others(11): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0007a0001c0002t0025others(9): Show | a0001c0001t0001g0061a0001c0001t0001g0092a0001c0002t0007g0060others(11): Show | 14 | 236 | 0.0593 | -9 | c.-23 others(24): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
CATSPER1_chr11_66011752_66031479 | 66016532 | CCCGGCAC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00673.hp1 others(83): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0024others(10): Show | a0001c0001t0001a0001c0003t0001a0001c0024t0001others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0009others(37): Show | 86 | 408 | 0.2108 | -9 | c.*34 others(18): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 219 | chr11 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91640243 | TATTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01069.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0019others(32): Show | 35 | 271 | 0.1292 | -9 | c.143 others(27): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91652670 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01243.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(5): Show | a0001c0001t0001g0058a0001c0001t0001g0157a0001c0001t0001g0158others(12): Show | 15 | 271 | 0.0554 | -9 | c.143 others(28): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91727505 | TACAAATA others(2): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0004a0003c0004t0004 | a0001c0001t0004g0003a0001c0001t0004g0004a0003c0004t0004g0001others(1): Show | 4 | 271 | 0.0148 | -9 | c.79+ others(24): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 2/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91727804 | GGATTTAG others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02080.hp1 HG02109.hp2 others(17): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0002t0001g0140a0001c0002t0001g0142a0002c0003t0001g0138others(17): Show | 20 | 271 | 0.0738 | -9 | c.79+ others(24): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 2/26 | chr14 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5716570 | GTTCCCAG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG02027.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0040a0001c0045a0002c0019others(2): Show | a0001c0040t0001a0001c0045t0001a0002c0019t0001others(2): Show | a0001c0040t0001g0331a0001c0045t0001g0151a0002c0019t0001g0330others(3): Show | 6 | 336 | 0.0179 | -9 | c.-41 others(20): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4066 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5779062 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(100): Show |
a0001a0003a0004others(11): Show | a0001c0001a0003c0004a0003c0005others(16): Show | a0001c0001t0002a0003c0004t0001a0003c0005t0001others(17): Show | a0001c0001t0002g0059a0001c0001t0002g0107a0001c0001t0002g0147others(100): Show | 103 | 336 | 0.3066 | -9 | c.*38 others(18): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 329 | chr19 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244489450 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02523.hp1 HG02886.hp2 HG02896.hp2 others(3): Show |
a0001a0006 | a0001c0001a0001c0006a0006c0010 | a0001c0001t0001a0001c0006t0002a0006c0010t0001 | a0001c0001t0001g0107a0001c0001t0001g0113a0001c0001t0001g0135others(3): Show | 6 | 206 | 0.0291 | -9 | c.327 others(24): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244531235 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 HG01884.hp1 others(23): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0007a0001c0019others(4): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(7): Show | a0001c0003t0001g0031a0001c0003t0001g0044a0001c0003t0001g0045others(23): Show | 26 | 206 | 0.1262 | -9 | c.536 others(28): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555476 | GAGGAAAG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0094a0001c0001t0001g0120others(46): Show | 50 | 342 | 0.1462 | -9 | c.196 others(26): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAVIN1_chr17_42397449_42428256 | 42413566 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG01952.hp1 HG02129.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0015others(3): Show | a0001c0001t0002g0021a0001c0001t0002g0022a0001c0001t0002g0243others(16): Show | 21 | 338 | 0.0621 | -9 | c.472 others(26): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33621287 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0279a0001c0001t0003g0071a0001c0001t0003g0072others(36): Show | 39 | 298 | 0.1309 | -9 | c.510 others(26): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFB_chr16_67024149_67106058 | 67048814 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01993.hp2 HG03225.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0057others(5): Show | 8 | 212 | 0.0377 | -9 | c.282 others(28): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CBLB_chr3_105650461_105874012 | 105679335 | TTAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01123.hp2 others(49): Show |
a0001 | a0001c0001a0001c0016a0001c0017 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(6): Show | a0001c0001t0001g0056a0001c0001t0003g0111a0001c0001t0003g0115others(49): Show | 52 | 380 | 0.1368 | -9 | c.242 others(26): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 16/18 | chr3 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105780653 | GTTTTTTG others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG02080.hp2 NA18951.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0287a0001c0002t0008g0288a0001c0002t0008g0289others(10): Show | 13 | 380 | 0.0342 | -9 | c.420 others(26): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | ||||||
CBLL2_chrX_22267913_22279461 | 22271960 | GTTTTTTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02647.hp1 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0000a0002c0003t0001g0000 | 3 | 346 | 0.0087 | -9 | c.-10 others(20): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119206289 | CCGGCGGC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG02258.hp2 HG02280.hp2 others(17): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(5): Show | a0001c0001t0001g0249a0001c0001t0002g0002a0001c0001t0002g0003others(17): Show | 20 | 364 | 0.0550 | -9 | c.-12 others(18): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 49 | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119264433 | CTTCTCTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG00741.hp2 others(23): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0012 | a0001c0001t0002a0001c0001t0018a0002c0003t0002others(1): Show | a0001c0001t0002g0255a0001c0001t0002g0262a0001c0001t0002g0263others(23): Show | 26 | 364 | 0.0714 | -9 | c.444 others(26): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119270436 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(109): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(12): Show | a0001c0001t0001g0123a0001c0001t0001g0129a0001c0001t0001g0131others(109): Show | 112 | 364 | 0.3077 | -9 | c.444 others(26): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119283625 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG02257.hp2 HG02486.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0022a0001c0002t0024others(1): Show | a0001c0002t0006g0034a0001c0002t0006g0037a0001c0002t0006g0038others(8): Show | 11 | 364 | 0.0302 | -9 | c.143 others(28): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBS_chr21_43048191_43080835 | 43077083 | GAAAAAAA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01261.hp2 HG01928.hp1 HG01934.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0013others(8): Show | 17 | 298 | 0.0571 | -9 | c.-14 others(20): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1249 | chr21 | TogoVar | ||||||
CBX4_chr17_79828156_79844440 | 79834441 | CGTGGTGG others(2): Show |
C | conservative_inframe_deletion | MODERATE | NA18979.hp1 NA18994.hp2 NA19066.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0036a0004c0006t0001g0124 | 3 | 420 | 0.0071 | -9 | c.119 others(18): Show |
p.His others(13): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 5/5 | 1389/2675 | 1192/1683 | 398/560 | chr17 | TogoVar | ||
CC2D2B_chr10_95902975_96038745 | 96025175 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(37): Show |
a0001a0005a0007others(7): Show | a0001c0001a0001c0007a0005c0006others(9): Show | a0001c0001t0001a0001c0007t0001a0005c0006t0001others(9): Show | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0015others(37): Show | 40 | 312 | 0.1282 | -9 | c.394 others(26): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 33/34 | chr10 | TogoVar | ||||||
CCAR1_chr10_68716239_68797377 | 68750207 | CTTTTTTC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(185): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(180): Show | 188 | 360 | 0.5222 | -9 | c.111 others(26): Show |
CCAR1 | ENSG00000060339.14 | transcript | ENST00000265872.11 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |