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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN3_chr11_66541903_66568334 | 66560624 | C | T | stop_gained | HIGH | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show |
a0002a0011a0013others(1): Show | a0002c0002a0002c0008a0002c0011others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001others(8): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010others(67): Show | 150 | 400 | 0.3750 | 0 | c.172 others(4): Show |
p.Arg others(4): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 15/21 | 1764/2882 | 1729/2706 | 577/901 | chr11 | 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 | |
ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 373 | 390 | 0.9564 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | 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 | ||
ARL9_chr4_56500791_56529453 | 56505976 | TAAAC | T | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0003t0004a0003c0007t0001 | a0003c0003t0001g0008a0003c0003t0001g0010a0003c0003t0001g0015others(41): Show | 61 | 416 | 0.1466 | -4 | c.118 others(11): Show |
p.Gln others(4): Show |
ARL9 | ENSG00000196503.5 | transcript | ENST00000640821.3 | protein_coding | 1/4 | 190/1447 | 118/798 | 40/265 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
ARMS2_chr10_122449653_122462352 | 122454839 | C | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(58): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(2): Show | a0003c0003t0001g0003a0003c0003t0001g0016a0003c0003t0001g0018others(4): Show | 61 | 424 | 0.1439 | 0 | c.112 others(3): Show |
p.Arg others(3): Show |
ARMS2 | ENSG00000254636.1 | transcript | ENST00000528446.1 | protein_coding | 1/2 | 187/818 | 112/324 | 38/107 | chr10 | 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 | ||||||
ARSH_chrX_3001546_3039111 | 3033029 | T | TGG | frameshift_variant | HIGH | NA18940.hp1 | a0010 | a0010c0013 | a0010c0013t0011 | a0010c0013t0011g0047 | 1 | 248 | 0.0040 | 2 | c.133 others(11): Show |
p.Lys others(5): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 9/9 | 1403/2482 | 1336/1689 | 446/562 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARSH_chrX_3001546_3039111 | 3033099 | GT | G | frameshift_variant | HIGH | NA18940.hp1 | a0010 | a0010c0013 | a0010c0013t0011 | a0010c0013t0011g0047 | 1 | 248 | 0.0040 | -1 | c.140 others(5): Show |
p.Ser others(5): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 9/9 | 1472/2482 | 1405/1689 | 469/562 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARSH_chrX_3001546_3039111 | 3033205 | T | TG | frameshift_variant | HIGH | NA18940.hp1 | a0010 | a0010c0013 | a0010c0013t0011 | a0010c0013t0011g0047 | 1 | 248 | 0.0040 | 1 | c.151 others(5): Show |
p.Asp others(5): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 9/9 | 1578/2482 | 1511/1689 | 504/562 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ARSH_chrX_3001546_3039111 | 3033340 | CT | C | frameshift_variant | HIGH | NA18940.hp1 | a0010 | a0010c0013 | a0010c0013t0011 | a0010c0013t0011g0047 | 1 | 248 | 0.0040 | -1 | c.164 others(5): Show |
p.Cys others(5): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 9/9 | 1712/2482 | 1645/1689 | 549/562 | chrX | 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 | ||
B4GALT2_chr1_43974210_43996168 | 43990356 | C | CG | frameshift_variant | HIGH | HG00741.hp1 HG01928.hp1 HG01978.hp2 others(4): Show |
a0000 | a0000c0004a0000c0007 | a0000c0004t0001a0000c0007t0003 | a0000c0004t0001g0014a0000c0004t0001g0028a0000c0004t0001g0145others(4): Show | 7 | 406 | 0.0172 | 1 | c.102 others(5): Show |
p.Tyr others(5): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 7/7 | 1384/2193 | 1030/1119 | 344/372 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
BBOF1_chr14_74014349_74071092 | 74022956 | A | T | stop_gained | HIGH | NA18940.hp1 | a0014 | a0014c0019 | a0014c0019t0002 | a0014c0019t0002g0291 | 1 | 386 | 0.0026 | 0 | c.97A others(2): Show |
p.Lys others(3): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 2/12 | 227/3113 | 97/1590 | 33/529 | chr14 | TogoVar | ||
BRD4_chr19_15230519_15337539 | 15238833 | T | TG | frameshift_variant | HIGH | HG01175.hp2 HG01496.hp1 HG01952.hp2 others(9): Show |
a0002a0003a0008 | a0002c0007a0003c0006a0003c0011others(2): Show | a0002c0007t0003a0002c0007t0033a0003c0006t0001others(6): Show | a0002c0007t0003g0145a0002c0007t0003g0168a0002c0007t0033g0006others(9): Show | 12 | 208 | 0.0577 | 1 | c.392 others(5): Show |
p.Gln others(6): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 19/20 | 4213/7231 | 3929/4089 | 1310/1362 | chr19 | TogoVar | ||
BTNL2_chr6_32388339_32412181 | 32394744 | C | A | stop_gained others(1): Show |
HIGH | HG00438.hp2 HG02015.hp2 HG02129.hp2 others(42): Show |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0001a0004c0003t0003g0015a0004c0003t0003g0042others(10): Show | 45 | 453 | 0.0993 | 0 | c.136 others(4): Show |
p.Glu others(4): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 6/8 | 1418/1564 | 1360/1449 | 454/482 | chr6 | TogoVar | ||
BTNL2_chr6_32388339_32412181 | 32403192 | TG | T | frameshift_variant | HIGH | HG00423.hp1 HG00673.hp1 HG00738.hp2 others(66): Show |
a0003a0006a0009others(1): Show | a0003c0004a0003c0008a0003c0021others(3): Show | a0003c0004t0002a0003c0008t0001a0003c0021t0002others(3): Show | a0003c0004t0002g0044a0003c0004t0002g0070a0003c0004t0002g0071others(35): Show | 69 | 453 | 0.1523 | -1 | c.451 others(4): Show |
p.His others(5): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 3/8 | 509/1564 | 451/1449 | 151/482 | 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 | ||||||
C3orf52_chr3_112081389_112123210 | 112109537 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0011a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0067a0001c0001t0001g0118a0001c0001t0002g0002others(98): Show | 157 | 372 | 0.4220 | 1 | c.397 others(6): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAND1_chr12_67264358_67324953 | 67292641 | A | T | stop_gained | HIGH | NA18940.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0182 | 1 | 328 | 0.0031 | 0 | c.232 others(3): Show |
p.Lys others(3): Show |
CAND1 | ENSG00000111530.13 | transcript | ENST00000545606.6 | protein_coding | 3/15 | 592/11176 | 232/3693 | 78/1230 | chr12 | 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 | ||||||
CBLC_chr19_44772890_44805652 | 44793589 | A | AC | frameshift_variant | HIGH | HG00738.hp2 HG01123.hp1 HG01884.hp1 others(44): Show |
a0000 | a0000c0002a0000c0004a0000c0007others(1): Show | a0000c0002t0001a0000c0004t0001a0000c0007t0001others(1): Show | a0000c0002t0001g0012a0000c0002t0001g0013a0000c0002t0001g0032others(41): Show | 47 | 344 | 0.1366 | 1 | c.125 others(5): Show |
p.Gln others(5): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 8/11 | 1298/1576 | 1256/1425 | 419/474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
CC2D1A_chr19_13901201_13935879 | 13919913 | G | T | stop_gained | HIGH | NA18940.hp2 | a0012 | a0012c0029 | a0012c0029t0001 | a0012c0029t0001g0043 | 1 | 370 | 0.0027 | 0 | c.131 others(4): Show |
p.Glu others(4): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 12/29 | 1559/3581 | 1318/2856 | 440/951 | chr19 | TogoVar | ||
CC2D1A_chr19_13901201_13935879 | 13919922 | G | T | stop_gained | HIGH | NA18940.hp2 | a0012 | a0012c0029 | a0012c0029t0001 | a0012c0029t0001g0043 | 1 | 370 | 0.0027 | 0 | c.132 others(4): Show |
p.Glu others(4): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 12/29 | 1568/3581 | 1327/2856 | 443/951 | chr19 | TogoVar | ||
CC2D1A_chr19_13901201_13935879 | 13927986 | G | T | stop_gained | HIGH | NA18940.hp1 | a0018 | a0018c0021 | a0018c0021t0001 | a0018c0021t0001g0052 | 1 | 370 | 0.0027 | 0 | c.241 others(4): Show |
p.Glu others(4): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 23/29 | 2651/3581 | 2410/2856 | 804/951 | chr19 | 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 | ||||||
CCDC30_chr1_42458286_42662190 | 42497175 | C | T | stop_gained | HIGH | NA18940.hp2 | a0008 | a0008c0027 | a0008c0027t0014 | a0008c0027t0014g0273 | 1 | 324 | 0.0031 | 0 | c.319 others(3): Show |
p.Arg others(4): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 5/21 | 1023/6683 | 319/2817 | 107/938 | chr1 | TogoVar | ||
CCDC7_chr10_32441140_32887864 | 32518506 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00558.hp2 HG00597.hp2 HG00609.hp1 others(44): Show |
a0001a0020 | a0001c0002a0020c0018 | a0001c0002t0001a0020c0018t0001 | a0001c0002t0001g0125a0001c0002t0001g0126a0001c0002t0001g0127others(44): Show | 47 | 368 | 0.1277 | 0 | c.993 others(5): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 12/43 | chr10 | 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 | ||
CD207_chr2_70825211_70840816 | 70835707 | G | A | stop_gained | HIGH | NA18940.hp1 NA18944.hp1 NA18961.hp2 others(5): Show |
a0008 | a0008c0017a0008c0019a0008c0036 | a0008c0017t0002a0008c0019t0001a0008c0036t0001 | a0008c0017t0002g0023a0008c0019t0001g0053a0008c0019t0001g0127others(1): Show | 8 | 444 | 0.0180 | 0 | c.70C others(2): Show |
p.Arg others(3): Show |
CD207 | ENSG00000116031.9 | transcript | ENST00000410009.5 | protein_coding | 1/6 | 110/1866 | 70/987 | 24/328 | chr2 | 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 | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(115): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0019others(44): Show | 118 | 416 | 0.2837 | 2 | c.647 others(13): 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 | ||
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 | ||
CENPI_chrX_101093204_101171126 | 101148072 | G | GA | frameshift_variant | HIGH | NA18940.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0065 | 1 | 282 | 0.0036 | 1 | c.201 others(5): Show |
p.Thr others(5): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 20/22 | 2166/5584 | 2012/2271 | 671/756 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CLN3_chr16_28472279_28497074 | 28477518 | A | C | stop_lost | HIGH | NA18940.hp1 | a0000 | a0000c0006 | a0000c0006t0005 | a0000c0006t0005g0257 | 1 | 360 | 0.0028 | 0 | c.131 others(4): Show |
p.Ter others(11): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 16/16 | 1446/1685 | 1315/1317 | 439/438 | chr16 | TogoVar | ||
CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 355 | 424 | 0.8373 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17457514 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0065others(135): Show | 138 | 218 | 0.6330 | -1 | c.311 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COG6_chr13_39650662_39757628 | 39679963 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(123): Show | 134 | 370 | 0.3622 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0021a0001c0037others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(270): Show | 276 | 360 | 0.7667 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CSTL1_chr20_23434685_23449930 | 23443932 | A | G | splice_acceptor_variant others(1): Show |
HIGH | NA18940.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0050 | 1 | 452 | 0.0022 | 0 | c.220 others(5): Show |
CSTL1 | ENSG00000125823.13 | transcript | ENST00000347397.5 | protein_coding | 2/3 | chr20 | TogoVar | ||||||
CT45A1_chrX_135708639_135728228 | 135718988 | T | TA | frameshift_variant | HIGH | NA18940.hp1 | a0005 | a0005c0003 | a0005c0003t0002 | a0005c0003t0002g0022 | 1 | 57 | 0.0175 | 1 | c.51d others(3): Show |
p.Arg others(4): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/5 | 110/823 | 52/570 | 18/189 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CTAG2_chrX_154646977_154658579 | 154653401 | C | CA | frameshift_variant | HIGH | NA18940.hp1 | a0000 | a0000c0011 | a0000c0011t0001 | a0000c0011t0001g0016 | 1 | 314 | 0.0032 | 1 | c.114 others(4): Show |
p.Ala others(4): Show |
CTAG2 | ENSG00000126890.14 | transcript | ENST00000369585.4 | protein_coding | 1/3 | 178/759 | 114/543 | 38/180 | chrX | TogoVar | ||
CXXC4_chr4_104463308_104499894 | 104491452 | A | AC | frameshift_variant | HIGH | HG01099.hp1 HG01243.hp1 HG01928.hp1 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(7): Show | a0002c0002t0001g0010a0002c0002t0001g0041a0002c0002t0001g0095others(12): Show | 20 | 332 | 0.0602 | 1 | c.350 others(4): Show |
p.Gly others(5): Show |
CXXC4 | ENSG00000168772.12 | transcript | ENST00000394767.3 | protein_coding | 2/3 | 801/5569 | 350/1104 | 117/367 | chr4 | TogoVar | ||
CXorf51A_chrX_146809106_146819744 | 146811328 | AGGTTTGT others(3365): Show |
A | exon_loss_variant | HIGH | HG01071.hp2 HG02683.hp1 HG02683.hp2 others(10): Show |
a0000 | a0000c0002 | a0000c0002t0002 | a0000c0002t0002g0004 | 13 | 264 | 0.0492 | -3372 | c.24_ others(8): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 2/2 | chrX | TogoVar | ||||||
CYP4B1_chr1_46794046_46824413 | 46815074 | GAT | G | frameshift_variant others(1): Show |
HIGH | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(66): Show |
a0003 | a0003c0003a0003c0018a0003c0019 | a0003c0003t0001a0003c0003t0003a0003c0018t0003others(1): Show | a0003c0003t0001g0009a0003c0003t0001g0035a0003c0003t0001g0103others(37): Show | 69 | 400 | 0.1725 | -2 | c.884 others(9): Show |
p.Asp others(5): Show |
CYP4B1 | ENSG00000142973.16 | transcript | ENST00000371923.9 | protein_coding | 8/12 | 920/2174 | 884/1539 | 295/512 | chr1 | TogoVar | ||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(28): Show | 268 | 456 | 0.5877 | 0 | c.349 others(3): Show |
p.Arg others(4): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | 589/3135 | 349/735 | 117/244 | chr5 | TogoVar |