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 | ||||||
ABCA10_chr17_69143007_69233824 | 69154324 | C | CACCTGGA others(1): Show |
frameshift_variant others(1): Show |
HIGH | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(33): Show |
a0005a0006a0007 | a0005c0005a0006c0007a0006c0016others(1): Show | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(4): Show | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213others(32): Show | 36 | 348 | 0.1035 | 8 | c.369 others(19): Show |
p.Glu others(6): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 31/39 | 4252/6008 | 3696/4632 | 1232/1543 | chr17 | TogoVar | ||
ABCA10_chr17_69143007_69233824 | 69193976 | AAT | A | frameshift_variant | HIGH | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(34): Show |
a0005a0006a0007others(1): Show | a0005c0005a0006c0007a0006c0016others(2): Show | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(5): Show | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213others(33): Show | 37 | 348 | 0.1063 | -2 | c.135 others(11): Show |
p.Ile others(5): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 13/39 | 1914/6008 | 1357/4632 | 453/1543 | chr17 | TogoVar | ||
ACOX2_chr3_58500136_58542190 | 58531789 | G | GCTTCTTA others(4): Show |
frameshift_variant | HIGH | HG03209.hp1 | a0005 | a0005c0019 | a0005c0019t0002 | a0005c0019t0002g0266 | 1 | 364 | 0.0028 | 11 | c.606 others(18): Show |
p.Leu others(5): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 6/15 | 769/2297 | 606/2046 | 202/681 | chr3 | 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 | |
AGAP6_chr10_49983406_50015499 | 49988768 | A | AC | frameshift_variant | HIGH | HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show |
a0003 | a0003c0003a0003c0014a0003c0031 | a0003c0003t0003a0003c0003t0009a0003c0003t0010others(3): Show | a0003c0003t0003g0011a0003c0003t0003g0017a0003c0003t0003g0024others(25): Show | 39 | 406 | 0.0961 | 1 | c.55d others(3): Show |
p.Gln others(4): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 1/8 | 366/2684 | 56/2061 | 19/686 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
AGAP6_chr10_49983406_50015499 | 50008914 | CAA | C | frameshift_variant | HIGH | HG00140.hp1 HG00609.hp2 HG00741.hp1 others(36): Show |
a0003 | a0003c0003a0003c0014a0003c0031 | a0003c0003t0003a0003c0003t0009a0003c0003t0010others(3): Show | a0003c0003t0003g0011a0003c0003t0003g0017a0003c0003t0003g0024others(25): Show | 39 | 406 | 0.0961 | -2 | c.791 others(9): Show |
p.Lys others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 8/8 | 1101/2684 | 791/2061 | 264/686 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
AGAP9_chr10_47496854_47528638 | 47515631 | ACTATGGC others(11078): Show |
A | exon_loss_variant | HIGH | HG01192.hp1 HG01884.hp2 HG03209.hp2 |
a0005 | a0005c0006 | a0005c0006t0006 | a0005c0006t0006g0177a0005c0006t0006g0178a0005c0006t0006g0179 | 3 | 206 | 0.0146 | -11085 | c.-31 others(14): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 4/8 | chr10 | TogoVar | ||||||
AKR1E2_chr10_4821207_4853062 | 4847211 | C | T | stop_gained | HIGH | HG01175.hp2 HG01346.hp2 HG01928.hp1 others(8): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0007 | a0003c0004t0005g0023a0003c0004t0005g0039a0003c0004t0005g0045others(6): Show | 11 | 358 | 0.0307 | 0 | c.901 others(3): Show |
p.Arg others(4): Show |
AKR1E2 | ENSG00000165568.18 | transcript | ENST00000298375.12 | protein_coding | 9/10 | 1019/1613 | 901/963 | 301/320 | chr10 | 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 | ||||||
ALG1L2_chr3_130076831_130103390 | 130096091 | GC | G | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(48): Show |
a0002a0003a0005 | a0002c0002a0002c0004a0002c0007others(6): Show | a0002c0002t0001a0002c0004t0001a0002c0004t0002others(8): Show | a0002c0002t0001g0005a0002c0002t0001g0008a0002c0002t0001g0019others(33): Show | 51 | 261 | 0.1954 | -1 | c.469 others(4): Show |
p.Leu others(5): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 6/8 | 655/969 | 469/648 | 157/215 | INFO_REALIGN_3_PRIME | chr3 | 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 | |||||
AOC3_chr17_42846199_42863124 | 42856481 | C | A | stop_gained | HIGH | HG03209.hp1 | a0011 | a0011c0015 | a0011c0015t0003 | a0011c0015t0003g0001 | 1 | 284 | 0.0035 | 0 | c.222 others(4): Show |
p.Cys others(4): Show |
AOC3 | ENSG00000131471.7 | transcript | ENST00000308423.7 | protein_coding | 4/4 | 2368/4011 | 2223/2292 | 741/763 | chr17 | 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 | ||
ARFGAP1_chr20_63267813_63294790 | 63278938 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG00621.hp1 HG00741.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0018 | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0004others(8): Show | 12 | 342 | 0.0351 | 1 | c.572 others(4): Show |
p.Pro others(5): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 7/13 | 685/3250 | 573/1221 | 191/406 | INFO_REALIGN_3_PRIME | chr20 | 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 | |
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 | ||||||
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 | |||||
ATP6V1B1_chr2_70930900_70970431 | 70935956 | T | C | start_lost | HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(149): Show |
a0002a0004a0005others(4): Show | a0002c0003a0002c0006a0002c0008others(18): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003others(21): Show | a0002c0003t0001g0021a0002c0003t0001g0271a0002c0003t0001g0280others(144): Show | 152 | 440 | 0.3455 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | 57/1907 | 2/1542 | 1/513 | chr2 | 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 | ||
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 | ||||||
BABAM1_chr19_17262443_17284337 | 17267528 | G | T | splice_donor_variant others(1): Show |
HIGH | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 424 | 0.0024 | 0 | c.-14 others(5): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 1/8 | chr19 | TogoVar | ||||||
BEST1_chr11_61945351_61969461 | 61955084 | TCCACCC | T | splice_acceptor_variant others(2): Show |
HIGH | HG01496.hp1 HG02109.hp1 HG02257.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0022a0001c0002t0001g0045others(4): Show | 14 | 410 | 0.0342 | -6 | c.153 others(17): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 2/10 | 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 | |||||
BSPH1_chr19_47963046_47997170 | 47992080 | A | T | start_lost | HIGH | HG01167.hp1 HG01169.hp2 HG02280.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0015a0003c0004t0001g0016a0003c0004t0001g0017others(1): Show | 4 | 444 | 0.0090 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/6 | 91/654 | 2/399 | 1/132 | chr19 | 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 | ||
C12orf54_chr12_48477498_48501524 | 48494980 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01099.hp1 HG01167.hp1 HG02258.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0001g0091others(11): Show | 37 | 436 | 0.0849 | 0 | c.*40 others(5): Show |
C12orf54 | ENSG00000177627.11 | transcript | ENST00000548364.7 | protein_coding | 8/8 | chr12 | 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 | ||||||
C17orf107_chr17_4894536_4907934 | 4900416 | G | A | stop_gained | HIGH | HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(4): Show | a0002c0002t0001g0001a0002c0002t0002g0001a0002c0002t0006g0001others(4): Show | 94 | 442 | 0.2127 | 0 | c.456 others(3): Show |
p.Trp others(4): Show |
C17orf107 | ENSG00000205710.4 | transcript | ENST00000381365.4 | protein_coding | 3/3 | 683/3201 | 456/573 | 152/190 | chr17 | TogoVar | ||
C1QTNF8_chr16_1083226_1101244 | 1093978 | G | GC | frameshift_variant | HIGH | HG01109.hp2 HG01243.hp2 HG02647.hp2 others(6): Show |
a0000 | a0000c0002 | a0000c0002t0009 | a0000c0002t0009g0008a0000c0002t0009g0159 | 9 | 396 | 0.0227 | 1 | c.281 others(4): Show |
p.Leu others(4): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/5 | 555/3406 | 281/759 | 94/252 | chr16 | TogoVar | ||
C1orf105_chr1_172415685_172473829 | 172462246 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00741.hp1 HG01081.hp2 others(11): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0006 | a0003c0003t0002g0009a0003c0003t0002g0094a0003c0003t0002g0108others(8): Show | 14 | 320 | 0.0438 | 0 | c.341 others(5): Show |
C1orf105 | ENSG00000180999.11 | transcript | ENST00000367727.9 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
C2orf92_chr2_97664713_97708066 | 97702739 | GA | G | frameshift_variant | HIGH | HG01243.hp1 HG01358.hp1 HG02451.hp1 others(12): Show |
a0004a0006 | a0004c0004a0006c0010 | a0004c0004t0001a0006c0010t0001 | a0004c0004t0001g0018a0004c0004t0001g0080a0004c0004t0001g0081others(11): Show | 15 | 310 | 0.0484 | -1 | c.743 others(4): Show |
p.Asn others(5): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 8/8 | 819/1139 | 743/798 | 248/265 | 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 | |||||
C6orf52_chr6_10666422_10699616 | 10694492 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00544.hp1 HG01243.hp2 HG02055.hp2 others(27): Show |
a0002a0003 | a0002c0002a0002c0003a0003c0004 | a0002c0002t0002a0002c0003t0002a0002c0003t0004others(1): Show | a0002c0002t0002g0041a0002c0002t0002g0042a0002c0003t0002g0017others(23): Show | 30 | 284 | 0.1056 | 0 | c.-12 others(5): Show |
C6orf52 | ENSG00000137434.12 | transcript | ENST00000259983.8 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
CAGE1_chr6_7321659_7394742 | 7374133 | T | G | splice_acceptor_variant others(1): Show |
HIGH | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 360 | 0.0028 | 0 | c.688 others(5): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 4/13 | chr6 | 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 | |
CBS_chr21_43048191_43080835 | 43063074 | A | ATGATCTG others(61): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(37): Show |
a0002a0008 | a0002c0003a0008c0015 | a0002c0003t0001a0002c0003t0003a0002c0003t0004others(2): Show | a0002c0003t0001g0110a0002c0003t0001g0175a0002c0003t0003g0119others(26): Show | 40 | 298 | 0.1342 | 68 | c.832 others(75): Show |
p.Ile others(5): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/17 | 982/2495 | 832/1656 | 278/551 | chr21 | 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 | |||||
CCNB1IP1_chr14_20306370_20338279 | 20329173 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02572.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 2 | 418 | 0.0048 | 0 | c.-23 others(6): Show |
CCNB1IP1 | ENSG00000100814.19 | transcript | ENST00000358932.9 | protein_coding | 2/6 | chr14 | 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 | ||
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 | 133071304 | CCCCCCCC others(91): Show |
C | frameshift_variant | HIGH | HG00735.hp2 HG02165.hp2 HG02602.hp1 others(4): Show |
a0005a0030 | a0005c0081a0005c0085a0005c0086others(4): Show | a0005c0081t0001a0005c0085t0001a0005c0086t0001others(4): Show | a0005c0081t0001g0010a0005c0085t0001g0010a0005c0086t0001g0007others(4): Show | 7 | 416 | 0.0168 | -98 | c.181 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1832/2381 | 1810/2262 | 604/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071469 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG02071.hp2 HG02109.hp2 HG02280.hp1 others(8): Show |
a0001a0013a0068 | a0001c0076a0013c0013a0013c0033others(4): Show | a0001c0076t0002a0013c0013t0001a0013c0033t0001others(4): Show | a0001c0076t0002g0071a0013c0013t0001g0001a0013c0013t0001g0055others(8): Show | 11 | 416 | 0.0264 | -32 | c.197 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |