| 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 | ||||||
| AADACL3_chr1_12711110_12733760 | 12716215 | C | A | stop_gained | HIGH | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show |
a0002 | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(11): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(26): Show | 73 | 432 | 0.1690 | 0 | c.39C others(2): Show |
p.Cys others(3): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | 106/4055 | 39/1224 | 13/407 | chr1 | TogoVar | ||
| 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 | ||
| 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 | |
| AKAP17A_chrX_1586604_1607520 | 1601527 | A | AC | frameshift_variant | HIGH | HG00738.hp1 | a0000 | a0000c0018 | a0000c0018t0002 | a0000c0018t0002g0044 | 1 | 151 | 0.0066 | 1 | c.202 others(5): Show |
p.Arg others(5): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 2209/3199 | 2024/2088 | 675/695 | INFO_REALIGN_3_PRIME | chrX | 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 | ||||||
| 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 | ||
| APOBEC3A_chr22_38952609_38968184 | 38962275 | GGCCTTGC others(5902): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(34): Show |
a0000 | a0000c0004a0000c0010 | a0000c0004t0003a0000c0010t0003 | a0000c0004t0003g0004a0000c0004t0003g0045a0000c0004t0003g0050others(2): Show | 37 | 360 | 0.1028 | -5909 | c.585 others(12): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 5/5 | chr22 | 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 | ||
| ARGFX_chr3_121562949_121595622 | 121576882 | C | T | stop_gained | HIGH | HG00738.hp2 HG01192.hp2 HG01361.hp2 |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0006 | a0005c0005t0001g0257a0005c0005t0001g0258a0005c0005t0006g0236 | 3 | 410 | 0.0073 | 0 | c.202 others(3): Show |
p.Arg others(3): Show |
ARGFX | ENSG00000186103.5 | transcript | ENST00000334384.5 | protein_coding | 3/5 | 279/5047 | 202/948 | 68/315 | chr3 | TogoVar | ||
| ARHGEF1_chr19_41878184_41912452 | 41904033 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG00738.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0089 | 1 | 234 | 0.0043 | 0 | c.191 others(6): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 20/28 | chr19 | 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 | |
| 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 | |||||
| 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 | ||||||
| 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 | ||||||
| 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 | ||
| C12orf60_chr12_14798670_14829415 | 14823483 | CTA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(65): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003a0002c0002t0001g0008a0002c0002t0001g0012others(9): Show | 68 | 388 | 0.1753 | -2 | c.550 others(9): Show |
p.Met others(5): Show |
C12orf60 | ENSG00000182993.5 | transcript | ENST00000330828.3 | protein_coding | 2/2 | 656/1586 | 550/738 | 184/245 | INFO_REALIGN_3_PRIME | 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 | ||||||
| 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 | |||||
| C9orf43_chr9_113405747_113434690 | 113428964 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(19): Show |
a0001a0012 | a0001c0001a0012c0007 | a0001c0001t0001a0012c0007t0008 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0084others(1): Show | 22 | 310 | 0.0710 | 0 | c.117 others(6): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 13/13 | chr9 | 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 | |||||
| CAPN15_chr16_522712_559636 | 552143 | T | TG | frameshift_variant | HIGH | HG00735.hp1 HG00738.hp2 HG01099.hp1 others(21): Show |
a0003a0005a0015others(5): Show | a0003c0012a0003c0014a0003c0047others(12): Show | a0003c0012t0001a0003c0012t0002a0003c0014t0001others(18): Show | a0003c0012t0001g0261a0003c0012t0002g0061a0003c0012t0002g0260others(21): Show | 24 | 410 | 0.0585 | 1 | c.244 others(5): Show |
p.Val others(5): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 10/14 | 2951/4888 | 2444/3261 | 815/1086 | INFO_REALIGN_3_PRIME | chr16 | 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 | |
| CBX8_chr17_79787132_79802077 | 79795262 | A | AC | frameshift_variant | HIGH | HG00738.hp2 HG01261.hp2 HG02055.hp2 others(7): Show |
a0003 | a0003c0003a0003c0004 | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0044a0003c0003t0002g0045a0003c0003t0003g0047others(6): Show | 10 | 412 | 0.0243 | 1 | c.542 others(4): Show |
p.Thr others(5): Show |
CBX8 | ENSG00000141570.11 | transcript | ENST00000269385.9 | protein_coding | 5/5 | 621/3752 | 542/1170 | 181/389 | chr17 | 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 | |||||
| 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 | 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 | |||||
| CEACAM4_chr19_41614015_41632074 | 41626899 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00738.hp1 HG02258.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018a0001c0002t0001g0064a0001c0002t0001g0065others(3): Show | 8 | 437 | 0.0183 | 0 | c.64+ others(4): Show |
CEACAM4 | ENSG00000105352.11 | transcript | ENST00000221954.7 | protein_coding | 1/6 | 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 | ||
| CEL_chr9_133056981_133076861 | 133071304 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | HG00438.hp1 HG00738.hp1 HG02647.hp2 others(3): Show |
a0001a0005 | a0001c0056a0001c0057a0001c0061others(3): Show | a0001c0056t0001a0001c0057t0001a0001c0061t0001others(3): Show | a0001c0056t0001g0008a0001c0057t0001g0008a0001c0061t0001g0006others(3): Show | 6 | 416 | 0.0144 | -65 | c.181 others(74): 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 | 133071402 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(25): Show |
a0001a0005a0006others(2): Show | a0001c0019a0001c0054a0001c0056others(24): Show | a0001c0019t0001a0001c0054t0001a0001c0056t0001others(24): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0054t0001g0056others(25): Show | 28 | 416 | 0.0673 | 1 | c.190 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1931/2381 | 1909/2262 | 637/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CEL_chr9_133056981_133076861 | 133071467 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(35): Show |
a0001a0004a0005others(3): Show | a0001c0073a0001c0190a0001c0192others(26): Show | a0001c0073t0001a0001c0190t0001a0001c0192t0001others(26): Show | a0001c0073t0001g0001a0001c0190t0001g0005a0001c0192t0001g0002others(31): Show | 38 | 416 | 0.0914 | 1 | c.196 others(10): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1988/2381 | 1966/2262 | 656/753 | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071501 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(49): Show |
a0001a0004a0005others(10): Show | a0001c0054a0001c0060a0001c0061others(48): Show | a0001c0054t0001a0001c0060t0001a0001c0061t0001others(48): Show | a0001c0054t0001g0056a0001c0060t0001g0001a0001c0061t0001g0006others(48): Show | 52 | 416 | 0.1250 | 1 | c.200 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2030/2381 | 2008/2262 | 670/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CEL_chr9_133056981_133076861 | 133071535 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(39): Show |
a0001a0004a0006others(4): Show | a0001c0192a0001c0194a0001c0195others(22): Show | a0001c0192t0001a0001c0194t0001a0001c0195t0001others(22): Show | a0001c0192t0001g0002a0001c0194t0001g0002a0001c0195t0001g0084others(28): Show | 42 | 416 | 0.1010 | -32 | c.204 others(41): 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 | |
| CEL_chr9_133056981_133076861 | 133071567 | G | GC | frameshift_variant | HIGH | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0004others(19): Show | a0001c0054a0001c0055a0001c0056others(60): Show | a0001c0054t0001a0001c0055t0001a0001c0056t0001others(60): Show | a0001c0054t0001g0056a0001c0055t0001g0001a0001c0056t0001g0008others(73): Show | 85 | 416 | 0.2043 | 1 | c.207 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2096/2381 | 2074/2262 | 692/753 | INFO_REALIGN_3_PRIME | chr9 | 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 | ||
| CES5A_chr16_55841154_55880373 | 55871764 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp1 HG00735.hp1 HG00738.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0323a0001c0001t0001g0338a0001c0001t0001g0340others(17): Show | 21 | 449 | 0.0468 | 0 | c.279 others(5): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
| CHIT1_chr1_203211079_203234673 | 203229634 | C | T | start_lost | HIGH | HG00738.hp2 | a0015 | a0015c0016 | a0015c0016t0001 | a0015c0016t0001g0058 | 1 | 484 | 0.0021 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 1/11 | 40/2248 | 3/1401 | 1/466 | chr1 | 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 | |||||
| CNKSR1_chr1_26172491_26194884 | 26185173 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00738.hp2 HG01109.hp1 others(10): Show |
a0004a0014a0015 | a0004c0005a0004c0017a0014c0014others(1): Show | a0004c0005t0001a0004c0005t0002a0004c0017t0001others(2): Show | a0004c0005t0001g0001a0004c0005t0001g0002a0004c0005t0001g0004others(9): Show | 13 | 372 | 0.0350 | 1 | c.129 others(5): Show |
p.Arg others(5): Show |
CNKSR1 | ENSG00000142675.18 | transcript | ENST00000361530.11 | protein_coding | 14/21 | 1355/2535 | 1298/2142 | 433/713 | INFO_REALIGN_3_PRIME | chr1 | 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 |