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 | ||||||
A3GALT2_chr1_33301766_33326098 | 33307198 | G | T | stop_gained | HIGH | HG02145.hp1 HG02280.hp2 HG02970.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0109a0002c0002t0000g0111a0002c0002t0000g0147others(1): Show | 4 | 418 | 0.0096 | 0 | c.591 others(3): Show |
p.Cys others(4): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 5/5 | 591/1023 | 591/1023 | 197/340 | chr1 | TogoVar | ||
ABCA10_chr17_69143007_69233824 | 69219561 | G | A | stop_gained | HIGH | HG02145.hp1 | a0015 | a0015c0030 | a0015c0030t0001 | a0015c0030t0001g0260 | 1 | 348 | 0.0029 | 0 | c.514 others(3): Show |
p.Arg others(4): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 6/39 | 1070/6008 | 514/4632 | 172/1543 | chr17 | TogoVar | ||
ABHD16B_chr20_63856498_63867988 | 63862607 | A | AC | frameshift_variant | HIGH | HG00597.hp2 HG01175.hp2 HG01255.hp2 others(15): Show |
a0003a0006 | a0003c0003a0003c0016a0006c0007 | a0003c0003t0001a0003c0016t0001a0006c0007t0001 | a0003c0003t0001g0000a0003c0016t0001g0000a0006c0007t0001g0000 | 18 | 398 | 0.0452 | 1 | c.107 others(5): Show |
p.Val others(5): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 1/1 | 1115/1491 | 1072/1410 | 358/469 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
ACOXL_chr2_110727573_111123548 | 110995965 | GGTTCTTC others(47): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG01243.hp2 HG01891.hp1 HG02109.hp1 others(8): Show |
a0000a0004a0008 | a0000c0013a0004c0005a0008c0008 | a0000c0013t0001a0004c0005t0001a0004c0005t0002others(2): Show | a0000c0013t0001g0046a0004c0005t0001g0070a0004c0005t0001g0134others(8): Show | 11 | 150 | 0.0733 | -54 | c.124 others(66): Show |
p.Leu others(13): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/18 | 1470/2699 | 1246/1743 | 416/580 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
ACSM6_chr10_95189238_95233929 | 95211883 | G | A | stop_gained | HIGH | HG02145.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0013 | 1 | 314 | 0.0032 | 0 | c.761 others(3): Show |
p.Trp others(4): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 6/11 | 848/1675 | 761/1443 | 254/480 | chr10 | 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 | |||||
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 | ||||||
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 | |
ANKRD36C_chr2_95844548_95996824 | 95918788 | GTTAGATA others(1872): Show |
G | exon_loss_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show |
a0002a0004a0008others(9): Show | a0002c0004a0002c0007a0002c0013others(14): Show | a0002c0004t0001a0002c0007t0001a0002c0013t0001others(14): Show | a0002c0004t0001g0003a0002c0004t0001g0019a0002c0004t0001g0021others(96): Show | 101 | 298 | 0.3389 | -1879 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | 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 | |||||
ANPEP_chr15_89779895_89819852 | 89806360 | C | CG | frameshift_variant | HIGH | HG00735.hp1 HG01255.hp2 HG02145.hp2 others(4): Show |
a0008 | a0008c0015a0008c0021a0008c0022others(2): Show | a0008c0015t0001a0008c0015t0002a0008c0021t0001others(3): Show | a0008c0015t0001g0039a0008c0015t0001g0065a0008c0015t0002g0087others(4): Show | 7 | 404 | 0.0173 | 1 | c.223 others(4): Show |
p.Arg others(4): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 2/21 | 527/3662 | 223/2904 | 75/967 | chr15 | TogoVar | ||
APOBEC3B_chr22_38977347_38997779 | 38991390 | TG | T | frameshift_variant | HIGH | HG02145.hp2 HG02647.hp1 HG02896.hp1 others(3): Show |
a0007 | a0007c0012a0007c0013 | a0007c0012t0001a0007c0013t0001 | a0007c0012t0001g0007a0007c0013t0001g0007 | 6 | 354 | 0.0170 | -1 | c.784 others(4): Show |
p.Val others(5): Show |
APOBEC3B | ENSG00000179750.16 | transcript | ENST00000333467.4 | protein_coding | 6/8 | 891/1590 | 784/1149 | 262/382 | INFO_REALIGN_3_PRIME | chr22 | 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 | ||
ATP5MK_chr10_103384050_103401475 | 103392467 | CTT | C | splice_acceptor_variant others(2): Show |
HIGH | HG01243.hp1 HG01243.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0047 | 11 | 438 | 0.0251 | -2 | c.-9- others(11): Show |
ATP5MK | ENSG00000173915.16 | transcript | ENST00000369815.6 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1783028 | T | C | stop_lost | HIGH | HG01070.hp1 HG01071.hp1 HG01192.hp2 others(25): Show |
a0000 | a0000c0020a0000c0023a0000c0027others(15): Show | a0000c0020t0007a0000c0020t0008a0000c0023t0007others(16): Show | a0000c0020t0007g0008a0000c0020t0007g0050a0000c0020t0007g0075others(25): Show | 28 | 390 | 0.0718 | 0 | c.390 others(4): Show |
p.Ter others(12): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 29/29 | 4142/5095 | 3903/3903 | 1301/1300 | chr19 | TogoVar | ||
BIRC7_chr20_63230905_63245495 | 63237961 | C | CG | frameshift_variant | HIGH | HG00735.hp1 HG00741.hp2 HG01106.hp2 others(9): Show |
a0003 | a0003c0008a0003c0010a0003c0011others(1): Show | a0003c0008t0001a0003c0010t0001a0003c0011t0001others(1): Show | a0003c0008t0001g0003a0003c0008t0001g0018a0003c0010t0001g0001others(4): Show | 12 | 300 | 0.0400 | 1 | c.412 others(4): Show |
p.Asp others(5): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 2/7 | 605/1334 | 413/897 | 138/298 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
BRD2_chr6_32963594_32986501 | 32980395 | C | CG | frameshift_variant | HIGH | HG02109.hp2 HG02145.hp1 HG02572.hp1 others(3): Show |
a0003 | a0003c0012a0003c0029a0003c0030 | a0003c0012t0001a0003c0012t0012a0003c0029t0002others(1): Show | a0003c0012t0001g0003a0003c0012t0001g0007a0003c0012t0012g0015others(3): Show | 6 | 469 | 0.0128 | 1 | c.220 others(5): Show |
p.Glu others(5): Show |
BRD2 | ENSG00000204256.14 | transcript | ENST00000374825.9 | protein_coding | 12/13 | 3971/4956 | 2204/2406 | 735/801 | INFO_REALIGN_3_PRIME | 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 | ||
BZW2_chr7_16641181_16711517 | 16682767 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG01081.hp2 HG01109.hp1 HG01167.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(41): Show | 46 | 418 | 0.1101 | 1 | c.340 others(6): Show |
BZW2 | ENSG00000136261.16 | transcript | ENST00000258761.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C11orf16_chr11_8915076_8937947 | 8921341 | CAT | C | frameshift_variant | HIGH | HG01109.hp2 HG01943.hp1 HG02109.hp1 others(9): Show |
a0000 | a0000c0007a0000c0011a0000c0019 | a0000c0007t0001a0000c0011t0001a0000c0019t0001 | a0000c0007t0001g0031a0000c0007t0001g0036a0000c0007t0001g0067others(6): Show | 12 | 410 | 0.0293 | -2 | c.137 others(11): Show |
p.Ile others(5): Show |
C11orf16 | ENSG00000176029.14 | transcript | ENST00000326053.10 | protein_coding | 6/7 | 1443/1866 | 1377/1404 | 459/467 | chr11 | 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 | ||||||
C1orf127_chr1_10941475_10987076 | 10949622 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02056.hp1 HG02145.hp1 HG02155.hp1 others(20): Show |
a0003a0005a0008others(3): Show | a0003c0006a0003c0014a0005c0008others(4): Show | a0003c0006t0004a0003c0006t0012a0003c0014t0004others(5): Show | a0003c0006t0004g0034a0003c0006t0004g0086a0003c0006t0004g0113others(20): Show | 23 | 392 | 0.0587 | 0 | c.129 others(6): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 11/12 | chr1 | TogoVar | ||||||
C1orf87_chr1_59985394_60078770 | 59990819 | C | A | stop_gained | HIGH | HG02145.hp1 | a0011 | a0011c0020 | a0011c0020t0006 | a0011c0020t0006g0217 | 1 | 382 | 0.0026 | 0 | c.149 others(4): Show |
p.Glu others(4): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 12/12 | 1603/2028 | 1495/1641 | 499/546 | chr1 | TogoVar | ||
C2orf50_chr2_11128128_11156317 | 11133332 | A | AC | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(32): Show | a0001c0001t0003g0004a0001c0001t0003g0010a0001c0001t0003g0039others(59): Show | 77 | 380 | 0.2026 | 1 | c.-1d others(3): Show |
p.Met others(3): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 1/3 | 208/7902 | 1/489 | 1/162 | INFO_REALIGN_3_PRIME | chr2 | 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 | |||||
C4orf47_chr4_185421254_185454826 | 185440720 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 358 | 0.0028 | 0 | c.714 others(5): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | chr4 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(7): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00609.hp2 HG00738.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0032a0001c0001t0001g0143a0001c0001t0001g0190others(21): Show | 24 | 200 | 0.1200 | 14 | c.121 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMP_chr3_48218495_48230485 | 48223513 | T | C | start_lost | HIGH | HG02145.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 1 | 346 | 0.0029 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
CAMP | ENSG00000164047.6 | transcript | ENST00000652295.2 | protein_coding | 1/4 | 19/591 | 2/513 | 1/170 | chr3 | TogoVar | ||
CAPN12_chr19_38725192_38749474 | 38737261 | G | GC | frameshift_variant | HIGH | HG01099.hp1 HG02056.hp2 HG02145.hp2 others(12): Show |
a0004a0024a0025 | a0004c0008a0004c0010a0004c0027others(3): Show | a0004c0008t0001a0004c0008t0003a0004c0008t0005others(6): Show | a0004c0008t0001g0135a0004c0008t0001g0146a0004c0008t0001g0147others(12): Show | 15 | 342 | 0.0439 | 1 | c.125 others(5): Show |
p.Arg others(5): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 10/21 | 1565/3129 | 1256/2160 | 419/719 | chr19 | 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 | |
CBX4_chr17_79828156_79844440 | 79834128 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00558.hp1 HG01099.hp2 others(31): Show |
a0000 | a0000c0002a0000c0009a0000c0013 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(5): Show | a0000c0002t0001g0023a0000c0002t0001g0035a0000c0002t0001g0042others(21): Show | 34 | 420 | 0.0810 | 1 | c.151 others(5): Show |
p.Val others(5): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 5/5 | 1702/2675 | 1513/1683 | 505/560 | chr17 | TogoVar | ||
CCDC77_chr12_396644_447642 | 409154 | GAGATCAC others(786): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01891.hp1 HG02145.hp2 HG02809.hp1 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0011a0006c0006t0012 | a0006c0006t0011g0103a0006c0006t0011g0106a0006c0006t0012g0104others(1): Show | 4 | 432 | 0.0093 | -793 | c.-16 others(14): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr12 | 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 | ||
CCL20_chr2_227808842_227822556 | 227815437 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02055.hp2 HG02145.hp1 HG02258.hp2 others(27): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0003c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0031others(4): Show | 30 | 448 | 0.0670 | 1 | c.77- others(5): Show |
CCL20 | ENSG00000115009.13 | transcript | ENST00000358813.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CD200R1L_chr3_112810711_112851864 | 112827063 | GT | G | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(46): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0001a0003c0006t0001 | a0003c0004t0001g0004a0003c0004t0001g0005a0003c0004t0001g0019others(25): Show | 49 | 408 | 0.1201 | -1 | c.545 others(4): Show |
p.His others(5): Show |
CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/8 | 1143/1603 | 545/753 | 182/250 | chr3 | 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 | |||||
CD72_chr9_35604982_35623413 | 35610302 | T | G | splice_acceptor_variant others(1): Show |
HIGH | HG01256.hp2 HG01346.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 3 | 390 | 0.0077 | 0 | c.*23 others(5): Show |
CD72 | ENSG00000137101.14 | transcript | ENST00000259633.9 | protein_coding | 8/8 | chr9 | TogoVar | ||||||
CEACAM21_chr19_41571166_41591844 | 41585872 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02145.hp2 HG02258.hp2 HG02647.hp2 others(7): Show |
a0004a0010 | a0004c0004a0010c0010 | a0004c0004t0001a0010c0010t0001 | a0004c0004t0001g0019a0004c0004t0001g0023a0004c0004t0001g0047others(3): Show | 10 | 393 | 0.0255 | 0 | c.882 others(5): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
CEL_chr9_133056981_133076861 | 133071270 | G | GC | frameshift_variant | HIGH | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(42): Show |
a0001a0030 | a0001c0019a0001c0020a0001c0054others(40): Show | a0001c0019t0001a0001c0020t0001a0001c0054t0001others(40): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0020t0001g0001others(42): Show | 45 | 416 | 0.1082 | 1 | c.177 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1799/2381 | 1777/2262 | 593/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071370 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00642.hp2 HG02145.hp2 NA18960.hp1 others(5): Show |
a0001a0007 | a0001c0068a0007c0113a0007c0115others(5): Show | a0001c0068t0001a0007c0113t0001a0007c0115t0002others(5): Show | a0001c0068t0001g0008a0007c0113t0001g0003a0007c0115t0002g0001others(5): Show | 8 | 416 | 0.0192 | -32 | c.187 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1898/2381 | 1876/2262 | 626/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071435 | G | GC | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp2 HG01099.hp2 others(20): Show |
a0001a0005a0006others(5): Show | a0001c0019a0001c0055a0001c0063others(19): Show | a0001c0019t0001a0001c0055t0001a0001c0063t0001others(19): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0055t0001g0001others(20): Show | 23 | 416 | 0.0553 | 1 | c.194 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1964/2381 | 1942/2262 | 648/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071533 | G | GC | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(179): Show |
a0001a0002a0004others(26): Show | a0001c0019a0001c0020a0001c0054others(112): Show | a0001c0019t0001a0001c0020t0001a0001c0054t0001others(112): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0020t0001g0001others(140): Show | 182 | 416 | 0.4375 | 1 | c.204 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |