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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2M_chr12_9062708_9120919 | 9093580 | CTATGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(47): Show |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0021others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0021t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(38): Show | 50 | 332 | 0.1506 | -5 | c.212 others(18): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | ||||||
ACOT8_chr20_45836721_45862392 | 45857313 | C | CATCT | frameshift_variant others(1): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG02165.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0022a0001c0002t0001g0035others(3): Show | 11 | 422 | 0.0261 | 4 | c.-2_ others(8): Show |
p.Met others(3): Show |
ACOT8 | ENSG00000101473.17 | transcript | ENST00000217455.9 | protein_coding | 1/6 | 79/1154 | 2/960 | 1/319 | chr20 | TogoVar | ||
ADGRE1_chr19_6882579_6945450 | 6921702 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(88): Show |
a0004a0006a0007others(24): Show | a0004c0004a0006c0006a0007c0007others(24): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004others(40): Show | a0004c0004t0001g0033a0004c0004t0001g0049a0004c0004t0001g0066others(87): Show | 91 | 338 | 0.2692 | 1 | c.162 others(7): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ADGRV1_chr5_90553797_91169437 | 90756446 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00621.hp1 HG01167.hp1 HG01192.hp1 others(41): Show |
a0002a0005a0012others(16): Show | a0002c0001a0002c0008a0005c0006others(19): Show | a0002c0001t0001a0002c0001t0002a0002c0008t0001others(20): Show | a0002c0001t0001g0016a0002c0001t0001g0018a0002c0001t0001g0029others(41): Show | 44 | 158 | 0.2785 | 1 | c.115 others(8): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 55/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AGAP3_chr7_151081475_151149434 | 151086813 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(332): Show | 344 | 354 | 0.9718 | 1 | c.73d others(3): Show |
p.Ala others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 341/3494 | 74/2736 | 25/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
AGAP3_chr7_151081475_151149434 | 151086821 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 1 | c.81d others(3): Show |
p.Gln others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 349/3494 | 82/2736 | 28/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
AGAP3_chr7_151081475_151149434 | 151086831 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 1 | c.91d others(3): Show |
p.Val others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 359/3494 | 92/2736 | 31/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
AKR1C8_chr10_5148920_5190150 | 5159943 | GTGATTGA others(229): Show |
G | frameshift_variant others(3): Show |
HIGH | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(40): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0002a0003c0006t0002 | a0003c0004t0002g0005a0003c0004t0002g0008a0003c0004t0002g0009others(27): Show | 43 | 408 | 0.1054 | -236 | c.457 others(11): Show |
p.Ala others(5): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 5/9 | 564/1247 | 457/981 | 153/326 | chr10 | TogoVar | ||
AMD1_chr6_110869785_110900713 | 110892724 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(206): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(77): Show | 209 | 394 | 0.5305 | 1 | c.616 others(6): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ANKDD1B_chr5_75606453_75676846 | 75669297 | G | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(139): Show |
a0001a0006a0007others(10): Show | a0001c0001a0001c0019a0001c0035others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(122): Show | 142 | 372 | 0.3817 | 0 | c.143 others(4): Show |
p.Trp others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 13/14 | 1621/2575 | 1439/1587 | 480/528 | chr5 | TogoVar | ||
ANKRD24_chr19_4177689_4229814 | 4217491 | C | CG | frameshift_variant | HIGH | HG00597.hp2 HG00639.hp1 HG01243.hp1 others(15): Show |
a0007a0012a0015others(5): Show | a0007c0011a0007c0041a0007c0042others(7): Show | a0007c0011t0001a0007c0011t0002a0007c0041t0001others(10): Show | a0007c0011t0001g0016a0007c0011t0001g0035a0007c0011t0001g0065others(15): Show | 18 | 356 | 0.0506 | 1 | c.233 others(5): Show |
p.Gly others(5): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 18/22 | 2425/3838 | 2337/3441 | 779/1146 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
ANKRD30B_chr18_14743172_14859667 | 14803765 | TGTGTTTA others(10880): Show |
T | exon_loss_variant | HIGH | HG03139.hp1 HG03927.hp1 NA18951.hp2 others(1): Show |
a0015a0031a0042 | a0015c0023a0015c0048a0031c0047others(1): Show | a0015c0023t0001a0015c0048t0001a0031c0047t0001others(1): Show | a0015c0023t0001g0134a0015c0048t0001g0096a0031c0047t0001g0255others(1): Show | 4 | 316 | 0.0127 | -10887 | c.228 others(17): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97151924 | C | T | stop_gained | HIGH | HG03834.hp2 HG03927.hp1 HG04115.hp2 |
a0016 | a0016c0023a0016c0053 | a0016c0023t0001a0016c0053t0001 | a0016c0023t0001g0091a0016c0023t0001g0093a0016c0053t0001g0104 | 3 | 212 | 0.0142 | 0 | c.114 others(4): Show |
p.Arg others(4): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 13/76 | 1734/6534 | 1147/5748 | 383/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97204663 | ACTGTAGG others(1865): Show |
A | exon_loss_variant | HIGH | HG03927.hp2 | a0035 | a0035c0062 | a0035c0062t0004 | a0035c0062t0004g0042 | 1 | 212 | 0.0047 | -1872 | c.306 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 51/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97207905 | TTTATTAT others(1859): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00423.hp1 HG01099.hp2 others(46): Show |
a0002a0004a0011others(7): Show | a0002c0002a0004c0005a0004c0024others(8): Show | a0002c0002t0001a0002c0002t0002a0004c0005t0004others(11): Show | a0002c0002t0001g0017a0002c0002t0001g0052a0002c0002t0001g0053others(46): Show | 49 | 212 | 0.2311 | -1866 | c.319 others(15): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 54/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97224796 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(144): Show |
a0000a0001a0002others(32): Show | a0000c0016a0001c0001a0001c0036others(40): Show | a0000c0016t0006a0001c0001t0001a0001c0001t0002others(46): Show | a0000c0016t0006g0018a0000c0016t0006g0076a0000c0016t0006g0108others(144): Show | 147 | 212 | 0.6934 | 1 | c.387 others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 66/75 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97264169 | TAGCATTG others(84): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG00099.hp1 HG00423.hp1 HG00597.hp2 others(64): Show |
a0001a0002a0004others(17): Show | a0001c0001a0001c0046a0002c0002others(20): Show | a0001c0001t0002a0001c0046t0002a0002c0002t0002others(22): Show | a0001c0001t0002g0020a0001c0001t0002g0021a0001c0001t0002g0022others(64): Show | 67 | 212 | 0.3160 | -91 | c.*7- others(100): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 76/76 | 14097 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
ANKUB1_chr3_149756100_149797554 | 149767338 | T | A | stop_gained | HIGH | HG03927.hp1 | a0011 | a0011c0025 | a0011c0025t0001 | a0011c0025t0001g0211 | 1 | 372 | 0.0027 | 0 | c.132 others(4): Show |
p.Lys others(4): Show |
ANKUB1 | ENSG00000206199.11 | transcript | ENST00000446160.7 | protein_coding | 5/6 | 1512/2207 | 1324/1635 | 442/544 | chr3 | TogoVar | ||
ANKZF1_chr2_219224806_219241679 | 219233853 | C | T | stop_gained | HIGH | HG03927.hp2 | a0017 | a0017c0013 | a0017c0013t0001 | a0017c0013t0001g0002 | 1 | 376 | 0.0027 | 0 | c.958 others(3): Show |
p.Arg others(4): Show |
ANKZF1 | ENSG00000163516.14 | transcript | ENST00000323348.10 | protein_coding | 8/14 | 1083/2540 | 958/2181 | 320/726 | chr2 | TogoVar | ||
ANLN_chr7_36384862_36458791 | 36425997 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show |
a0002a0004 | a0002c0001a0004c0007 | a0002c0001t0001a0002c0001t0010a0004c0007t0001 | a0002c0001t0001g0001a0002c0001t0001g0009a0002c0001t0001g0015others(58): Show | 64 | 408 | 0.1569 | 1 | c.274 others(7): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
APOL4_chr22_36184128_36206809 | 36191797 | ACT | A | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp2 HG00621.hp2 others(126): Show |
a0002 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0029others(13): Show | a0002c0002t0002g0007a0002c0002t0002g0009a0002c0002t0002g0011others(74): Show | 129 | 434 | 0.2972 | -2 | c.323 others(9): Show |
p.Glu others(5): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 4/4 | 399/3069 | 323/1047 | 108/348 | chr22 | TogoVar | ||
ARHGAP33_chr19_35770564_35793822 | 35787193 | A | AC | frameshift_variant | HIGH | HG00621.hp2 HG03098.hp1 HG03927.hp2 others(6): Show |
a0002a0019 | a0002c0011a0002c0013a0002c0014others(2): Show | a0002c0011t0001a0002c0013t0001a0002c0014t0001others(2): Show | a0002c0011t0001g0003a0002c0011t0001g0065a0002c0013t0001g0005others(4): Show | 9 | 420 | 0.0214 | 1 | c.263 others(5): Show |
p.Pro others(5): Show |
ARHGAP33 | ENSG00000004777.19 | transcript | ENST00000007510.9 | protein_coding | 21/21 | 2729/4352 | 2634/3864 | 878/1287 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
ARHGEF5_chr7_144350402_144385632 | 144365108 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG00597.hp2 HG00673.hp1 others(14): Show |
a0009a0015a0016others(11): Show | a0009c0073a0015c0024a0016c0054others(12): Show | a0009c0073t0001a0015c0024t0001a0016c0054t0001others(12): Show | a0009c0073t0001g0049a0015c0024t0001g0089a0015c0024t0001g0092others(14): Show | 17 | 288 | 0.0590 | 1 | c.244 others(5): Show |
p.Thr others(5): Show |
ARHGEF5 | ENSG00000050327.15 | transcript | ENST00000056217.10 | protein_coding | 2/15 | 2557/5482 | 2445/4794 | 815/1597 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
ARL13B_chr3_93975155_94060678 | 94043038 | G | GA | frameshift_variant | HIGH | HG00438.hp2 HG00733.hp2 HG01175.hp1 others(14): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0001a0003c0003t0006a0003c0006t0001 | a0003c0003t0001g0037a0003c0003t0001g0043a0003c0003t0001g0089others(14): Show | 17 | 264 | 0.0644 | 1 | c.830 others(4): Show |
p.Asn others(5): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/10 | 1100/3971 | 831/1287 | 277/428 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
ARPC5L_chr9_124857130_124882733 | 124862400 | A | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(111): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0019others(42): Show | 114 | 404 | 0.2822 | 0 | c.-98 others(6): Show |
ARPC5L | ENSG00000136950.13 | transcript | ENST00000353214.6 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102869497 | TCCTGAGT others(29): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(163): Show | 173 | 362 | 0.4779 | -36 | c.-19 others(44): Show |
p.Met others(3): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 1/11 | 105/2450 | 1/1128 | 1/375 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
ASAH2B_chr10_50734936_50764255 | 50745132 | T | C | start_lost | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(135): Show | 347 | 414 | 0.8382 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/6 | 149/5145 | 2/483 | 1/160 | chr10 | TogoVar | ||
ATAT1_chr6_30621874_30651821 | 30642841 | A | AC | frameshift_variant | HIGH | HG00738.hp1 HG00741.hp2 HG01109.hp2 others(13): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0005t0001 | a0002c0003t0001g0001a0002c0003t0001g0002a0002c0003t0001g0004others(12): Show | 16 | 405 | 0.0395 | 1 | c.805 others(4): Show |
p.Arg others(5): Show |
ATAT1 | ENSG00000137343.18 | transcript | ENST00000376485.9 | protein_coding | 10/13 | 818/1456 | 806/1266 | 269/421 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
ATM_chr11_108218067_108374102 | 108250683 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(157): Show | 160 | 304 | 0.5263 | 1 | c.123 others(7): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 9/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATP2B3_chrX_153512642_153587929 | 153580152 | G | GC | frameshift_variant | HIGH | HG03927.hp1 NA19083.hp1 |
a0000 | a0000c0013a0000c0018 | a0000c0013t0041a0000c0018t0013 | a0000c0013t0041g0041a0000c0018t0013g0090 | 2 | 267 | 0.0075 | 1 | c.352 others(5): Show |
p.Pro others(6): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 22/22 | 4005/6774 | 3525/3663 | 1175/1220 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AVPI1_chr10_97672424_97692241 | 97679916 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0009others(48): Show | 101 | 446 | 0.2265 | 0 | c.-10 others(5): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 1/2 | chr10 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 379511 | C | CG | frameshift_variant | HIGH | HG00544.hp1 HG01255.hp1 HG01952.hp2 others(7): Show |
a0003a0005a0018others(1): Show | a0003c0006a0005c0009a0018c0026others(1): Show | a0003c0006t0001a0005c0009t0001a0018c0026t0004others(1): Show | a0003c0006t0001g0026a0003c0006t0001g0088a0003c0006t0001g0102others(7): Show | 10 | 184 | 0.0544 | 1 | c.230 others(5): Show |
p.Gly others(5): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 15/20 | 2609/3750 | 2304/3120 | 768/1039 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
BRIX1_chr5_34910711_34930996 | 34925207 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(26): Show | 80 | 440 | 0.1818 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BRIX1_chr5_34910711_34930996 | 34925223 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0001g0026others(19): Show | 50 | 440 | 0.1136 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BTN3A2_chr6_26360198_26383312 | 26368051 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00642.hp1 HG00733.hp1 others(32): Show |
a0004a0005 | a0004c0005a0005c0006 | a0004c0005t0003a0004c0005t0049a0005c0006t0003 | a0004c0005t0003g0001a0004c0005t0003g0029a0004c0005t0003g0030others(6): Show | 35 | 382 | 0.0916 | 0 | c.-6+ others(4): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(115): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(241): Show | 406 | 414 | 0.9807 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1127383 | C | T | start_lost | HIGH | HG03927.hp1 | a0009 | a0009c0003 | a0009c0003t0011 | a0009c0003t0011g0274 | 1 | 326 | 0.0031 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/5 | 937/2138 | 3/585 | 1/194 | chr7 | TogoVar | ||
CATSPER2_chr15_43623503_43653844 | 43632936 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(113): Show | 176 | 392 | 0.4490 | 0 | c.117 others(6): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | chr15 | TogoVar | ||||||
CCDC138_chr2_108781771_108881578 | 108788018 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0129others(75): Show | 79 | 220 | 0.3591 | 1 | c.94- others(5): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC187_chr9_136244973_136309094 | 136253933 | C | CCCACCAG others(21): Show |
frameshift_variant others(1): Show |
HIGH | HG03239.hp1 HG03927.hp2 |
a0058 | a0058c0038 | a0058c0038t0002 | a0058c0038t0002g0067a0058c0038t0002g0200 | 2 | 400 | 0.0050 | 28 | c.586 others(37): Show |
p.Asn others(6): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 26/26 | 6158/10119 | 5894/6234 | 1965/2077 | chr9 | TogoVar | ||
CCDC198_chr14_57464300_57498857 | 57481662 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(133): Show | 261 | 362 | 0.7210 | 0 | c.394 others(5): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
CCHCR1_chr6_31137439_31162802 | 31157072 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(67): Show | 187 | 455 | 0.4110 | 0 | c.234 others(3): Show |
p.Trp others(3): Show |
CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 2/18 | 436/2971 | 234/2616 | 78/871 | chr6 | TogoVar | ||
CD40_chr20_46113314_46134858 | 46128304 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp1 HG01361.hp1 HG01361.hp2 others(39): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0048a0001c0001t0001g0071others(34): Show | 42 | 416 | 0.1010 | 1 | c.647 others(6): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CD40_chr20_46113314_46134858 | 46128304 | C | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG01433.hp1 HG02145.hp1 HG03927.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0061others(6): Show | 15 | 416 | 0.0361 | 3 | c.647 others(14): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH15_chr16_89166748_89200492 | 89195074 | C | A | stop_gained | HIGH | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(38): Show |
a0004a0005a0016others(2): Show | a0004c0005a0004c0019a0005c0006others(3): Show | a0004c0005t0001a0004c0019t0005a0005c0006t0001others(3): Show | a0004c0005t0001g0017a0004c0005t0001g0019a0004c0005t0001g0042others(28): Show | 41 | 406 | 0.1010 | 0 | c.236 others(4): Show |
p.Tyr others(4): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 14/14 | 2448/2866 | 2364/2445 | 788/814 | chr16 | TogoVar | ||
CEACAM21_chr19_41571166_41591844 | 41586462 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0063others(39): Show | 163 | 393 | 0.4148 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
CELA1_chr12_51323442_51351679 | 51329814 | A | AG | frameshift_variant | HIGH | HG00099.hp2 HG00423.hp2 HG00639.hp2 others(43): Show |
a0002 | a0002c0004a0002c0007a0002c0009 | a0002c0004t0002a0002c0007t0002a0002c0009t0002 | a0002c0004t0002g0006a0002c0004t0002g0008a0002c0004t0002g0017others(19): Show | 46 | 406 | 0.1133 | 1 | c.628 others(4): Show |
p.Leu others(5): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 7/8 | 669/953 | 628/777 | 210/258 | chr12 | TogoVar | ||
CELA1_chr12_51323442_51351679 | 51346628 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0002a0003 | a0002c0002a0002c0003a0002c0004others(5): Show | a0002c0002t0002a0002c0003t0001a0002c0003t0002others(6): Show | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0018others(115): Show | 211 | 406 | 0.5197 | -1 | c.10d others(3): Show |
p.Leu others(3): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1/8 | 51/953 | 10/777 | 4/258 | chr12 | TogoVar | ||
CEP89_chr19_32870925_32976958 | 32879164 | A | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(46): Show |
a0000 | a0000c0005a0000c0007a0000c0012 | a0000c0005t0005a0000c0005t0019a0000c0005t0020others(7): Show | a0000c0005t0005g0097a0000c0005t0005g0098a0000c0005t0005g0099others(46): Show | 49 | 386 | 0.1269 | 0 | c.235 others(4): Show |
p.Ter others(11): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 19/19 | 2434/5673 | 2350/2352 | 784/783 | chr19 | TogoVar | ||
CHIT1_chr1_203211079_203234673 | 203217822 | C | CAGACCAT others(17): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show |
a0001a0009a0013others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(41): Show | 175 | 484 | 0.3616 | 24 | c.104 others(33): Show |
p.Val others(37): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1109/2248 | 1072/1401 | 358/466 | chr1 | TogoVar |