| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AANAT_chr17_76462603_76475117 | 76469325 | C | T | stop_gained others(1): Show |
HIGH | NA19062.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0001 | 1 | 426 | 0.0024 | 0 | c.316 others(3): Show |
p.Gln others(4): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 3/4 | 516/971 | 316/624 | 106/207 | chr17 | TogoVar | ||
| ABCB5_chr7_20610667_20762008 | 20626612 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(68): Show |
a0002a0003a0005others(11): Show | a0002c0003a0003c0002a0003c0010others(14): Show | a0002c0003t0001a0003c0002t0001a0003c0002t0002others(20): Show | a0002c0003t0001g0349a0003c0002t0001g0117a0003c0002t0001g0137others(68): Show | 71 | 360 | 0.1972 | 0 | c.108 others(5): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | chr7 | TogoVar | ||||||
| ACSM2A_chr16_20446521_20492669 | 20480572 | G | T | splice_acceptor_variant others(1): Show |
HIGH | NA19062.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0293 | 1 | 436 | 0.0023 | 0 | c.128 others(6): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 10/13 | chr16 | 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 | |
| AKAP17A_chrX_1586604_1607520 | 1600738 | AG | A | frameshift_variant | HIGH | NA19062.hp1 | a0015 | a0015c0016 | a0015c0016t0019 | a0015c0016t0019g0014 | 1 | 151 | 0.0066 | -1 | c.123 others(5): Show |
p.Ala others(5): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 5/5 | 1419/3199 | 1234/2088 | 412/695 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ANKRD36C_chr2_95844548_95996824 | 95894704 | ATCAACAA others(5608): Show |
A | exon_loss_variant | HIGH | NA19062.hp2 NA19076.hp1 |
a0018 | a0018c0027 | a0018c0027t0001 | a0018c0027t0001g0026a0018c0027t0001g0073 | 2 | 298 | 0.0067 | -5615 | c.336 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 62/88 | chr2 | TogoVar | ||||||
| ANKRD36C_chr2_95844548_95996824 | 95898748 | ATATGGGT others(5609): Show |
A | exon_loss_variant | HIGH | HG02074.hp1 HG02922.hp2 NA19005.hp1 others(1): Show |
a0006a0027 | a0006c0016a0027c0063 | a0006c0016t0001a0027c0063t0001 | a0006c0016t0001g0124a0006c0016t0001g0290a0006c0016t0001g0291others(1): Show | 4 | 298 | 0.0134 | -5616 | c.316 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 58/88 | chr2 | TogoVar | ||||||
| ANLN_chr7_36384862_36458791 | 36425997 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show |
a0002a0004 | a0002c0001a0004c0007 | a0002c0001t0001a0002c0001t0010a0004c0007t0001 | a0002c0001t0001g0001a0002c0001t0001g0009a0002c0001t0001g0015others(58): Show | 64 | 408 | 0.1569 | 1 | c.274 others(7): Show |
ANLN | ENSG00000011426.11 | transcript | ENST00000265748.7 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AOX1_chr2_200581014_200676495 | 200603357 | G | A | splice_donor_variant others(1): Show |
HIGH | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 370 | 0.0027 | 0 | c.588 others(5): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 7/34 | chr2 | TogoVar | ||||||
| ARHGAP23_chr17_38423464_38517385 | 38466571 | A | AC | frameshift_variant | HIGH | HG00741.hp2 HG01361.hp1 HG02738.hp2 others(5): Show |
a0002 | a0002c0015a0002c0022a0002c0023others(2): Show | a0002c0015t0001a0002c0022t0001a0002c0022t0010others(3): Show | a0002c0015t0001g0189a0002c0015t0001g0243a0002c0022t0001g0095others(5): Show | 8 | 309 | 0.0259 | 1 | c.892 others(4): Show |
p.Arg others(5): Show |
ARHGAP23 | ENSG00000275832.5 | transcript | ENST00000622683.5 | protein_coding | 7/24 | 915/5911 | 893/4476 | 298/1491 | INFO_REALIGN_3_PRIME | chr17 | 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 | |
| ARMCX4_chrX_101480456_101500807 | 101493492 | TG | T | frameshift_variant | HIGH | NA19062.hp1 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0002 | 1 | 326 | 0.0031 | -1 | c.490 others(5): Show |
p.Ala others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5417/7729 | 4906/6873 | 1636/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494452 | GA | G | frameshift_variant | HIGH | NA19062.hp1 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0002 | 1 | 326 | 0.0031 | -1 | c.586 others(5): Show |
p.Asn others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6378/7729 | 5867/6873 | 1956/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494469 | CA | C | frameshift_variant | HIGH | NA19062.hp1 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0002 | 1 | 326 | 0.0031 | -1 | c.588 others(5): Show |
p.Lys others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6394/7729 | 5883/6873 | 1961/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494481 | TA | T | frameshift_variant | HIGH | NA19062.hp1 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0002 | 1 | 326 | 0.0031 | -1 | c.589 others(5): Show |
p.Lys others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6405/7729 | 5894/6873 | 1965/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494549 | TG | T | frameshift_variant | HIGH | NA19062.hp1 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0002 | 1 | 326 | 0.0031 | -1 | c.596 others(5): Show |
p.Ser others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6475/7729 | 5964/6873 | 1988/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494557 | TG | T | frameshift_variant | HIGH | NA19062.hp1 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0002 | 1 | 326 | 0.0031 | -1 | c.597 others(5): Show |
p.Asp others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6482/7729 | 5971/6873 | 1991/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494615 | TC | T | frameshift_variant | HIGH | NA19062.hp1 NA19078.hp2 |
a0030a0060 | a0030c0054a0060c0023 | a0030c0054t0001a0060c0023t0002 | a0030c0054t0001g0002a0060c0023t0002g0033 | 2 | 326 | 0.0061 | -1 | c.602 others(5): Show |
p.Pro others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6540/7729 | 6029/6873 | 2010/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494652 | TG | T | frameshift_variant | HIGH | NA19062.hp1 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0002 | 1 | 326 | 0.0031 | -1 | c.606 others(5): Show |
p.Glu others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6578/7729 | 6067/6873 | 2023/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494719 | G | GA | frameshift_variant | HIGH | NA19062.hp1 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0002 | 1 | 326 | 0.0031 | 1 | c.613 others(5): Show |
p.Leu others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6647/7729 | 6136/6873 | 2046/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494754 | TC | T | frameshift_variant | HIGH | NA19062.hp1 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0002 | 1 | 326 | 0.0031 | -1 | c.616 others(5): Show |
p.Pro others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6678/7729 | 6167/6873 | 2056/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494783 | CT | C | frameshift_variant | HIGH | NA19062.hp1 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0002 | 1 | 326 | 0.0031 | -1 | c.619 others(5): Show |
p.Leu others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6708/7729 | 6197/6873 | 2066/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101494797 | GC | G | frameshift_variant | HIGH | NA19062.hp1 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0002 | 1 | 326 | 0.0031 | -1 | c.620 others(5): Show |
p.Ala others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6720/7729 | 6209/6873 | 2070/2290 | chrX | TogoVar | ||
| ARMCX4_chrX_101480456_101500807 | 101494825 | T | TG | frameshift_variant | HIGH | NA19062.hp1 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0002 | 1 | 326 | 0.0031 | 1 | c.623 others(10): Show |
p.Arg others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6748/7729 | 6237/6873 | 2079/2290 | chrX | TogoVar | ||
| ARMCX4_chrX_101480456_101500807 | 101494835 | AG | A | frameshift_variant | HIGH | NA19062.hp1 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0002 | 1 | 326 | 0.0031 | -1 | c.624 others(5): Show |
p.Gly others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 6759/7729 | 6248/6873 | 2083/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ARMCX4_chrX_101480456_101500807 | 101495293 | AT | A | frameshift_variant | HIGH | NA19062.hp1 | a0030 | a0030c0054 | a0030c0054t0001 | a0030c0054t0001g0002 | 1 | 326 | 0.0031 | -1 | c.670 others(5): Show |
p.Phe others(6): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 7219/7729 | 6708/6873 | 2236/2290 | INFO_REALIGN_3_PRIME | chrX | 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 | ||||||
| ATXN7L2_chr1_109478905_109497734 | 109487068 | TGCCAGCT others(4): Show |
T | frameshift_variant | HIGH | NA19062.hp2 | a0008 | a0008c0003 | a0008c0003t0001 | a0008c0003t0001g0002 | 1 | 332 | 0.0030 | -11 | c.362 others(18): Show |
p.Ala others(5): Show |
ATXN7L2 | ENSG00000162650.17 | transcript | ENST00000683729.1 | protein_coding | 4/11 | 411/2448 | 362/2265 | 121/754 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| AVPR2_chrX_153899673_153912166 | 153905563 | GC | G | frameshift_variant | HIGH | NA19062.hp1 | a0007 | a0007c0011 | a0007c0011t0010 | a0007c0011t0010g0005 | 1 | 322 | 0.0031 | -1 | c.60d others(3): Show |
p.Ser others(4): Show |
AVPR2 | ENSG00000126895.16 | transcript | ENST00000646375.2 | protein_coding | 3/4 | 331/1825 | 60/1116 | 20/371 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AVPR2_chrX_153899673_153912166 | 153906238 | T | TG | frameshift_variant | HIGH | NA19062.hp1 | a0007 | a0007c0011 | a0007c0011t0010 | a0007c0011t0010g0005 | 1 | 322 | 0.0031 | 1 | c.738 others(4): Show |
p.Arg others(5): Show |
AVPR2 | ENSG00000126895.16 | transcript | ENST00000646375.2 | protein_coding | 3/4 | 1010/1825 | 739/1116 | 247/371 | INFO_REALIGN_3_PRIME | chrX | 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 | ||||||
| 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 | |
| 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 | ||||||
| CABLES2_chr20_62383634_62412285 | 62406982 | C | CG | frameshift_variant | HIGH | HG00735.hp2 HG01952.hp1 HG02155.hp1 others(6): Show |
a0005a0011 | a0005c0009a0005c0012a0005c0013others(2): Show | a0005c0009t0001a0005c0009t0023a0005c0012t0002others(3): Show | a0005c0009t0001g0055a0005c0009t0001g0057a0005c0009t0001g0058others(6): Show | 9 | 400 | 0.0225 | 1 | c.294 others(4): Show |
p.Ala others(4): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/10 | 303/3783 | 294/1437 | 98/478 | chr20 | TogoVar | ||
| CBX6_chr22_38856422_38877216 | 38866881 | G | GC | frameshift_variant | HIGH | HG01109.hp1 HG02895.hp1 HG03831.hp1 others(6): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0001a0003c0004t0002a0003c0004t0003others(5): Show | a0003c0004t0001g0101a0003c0004t0002g0145a0003c0004t0003g0045others(5): Show | 9 | 406 | 0.0222 | 1 | c.566 others(4): Show |
p.Ala others(5): Show |
CBX6 | ENSG00000183741.12 | transcript | ENST00000407418.8 | protein_coding | 5/5 | 592/6052 | 566/1239 | 189/412 | chr22 | TogoVar | ||
| CBY2_chr13_45697320_45719559 | 45713882 | C | A | stop_gained | HIGH | HG00140.hp2 HG00597.hp2 HG01928.hp1 others(33): Show |
a0003 | a0003c0003a0003c0015a0003c0019 | a0003c0003t0001a0003c0015t0001a0003c0019t0001 | a0003c0003t0001g0003a0003c0003t0001g0004a0003c0003t0001g0007others(6): Show | 36 | 440 | 0.0818 | 0 | c.857 others(3): Show |
p.Ser others(4): Show |
CBY2 | ENSG00000174015.10 | transcript | ENST00000310521.6 | protein_coding | 3/3 | 928/1605 | 857/1347 | 286/448 | chr13 | TogoVar | ||
| CCDC120_chrX_49053999_49074854 | 49065530 | TG | T | frameshift_variant | HIGH | NA19062.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0047 | 1 | 287 | 0.0035 | -1 | c.870 others(4): Show |
p.Ser others(5): Show |
CCDC120 | ENSG00000147144.13 | transcript | ENST00000603986.6 | protein_coding | 8/11 | 1050/3467 | 870/2091 | 290/696 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CD300C_chr17_74536073_74551115 | 74544657 | G | A | stop_gained | HIGH | HG00438.hp2 NA19062.hp2 NA20752.hp1 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0030a0003c0006t0001g0049a0003c0006t0001g0050 | 3 | 408 | 0.0074 | 0 | c.352 others(3): Show |
p.Arg others(4): Show |
CD300C | ENSG00000167850.4 | transcript | ENST00000330793.2 | protein_coding | 2/4 | 685/1524 | 352/675 | 118/224 | chr17 | 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 | 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 | |
| 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 | |
| CEL_chr9_133056981_133076861 | 133071600 | G | GC | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00597.hp2 others(44): Show |
a0001a0002a0004others(11): Show | a0001c0019a0001c0055a0001c0058others(42): Show | a0001c0019t0001a0001c0055t0001a0001c0058t0001others(42): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0055t0001g0001others(44): Show | 47 | 416 | 0.1130 | 1 | c.210 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2129/2381 | 2107/2262 | 703/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CENPVL1_chrX_51705512_51717131 | 51711245 | G | GGA | frameshift_variant | HIGH | NA19062.hp1 | a0000 | a0000c0006 | a0000c0006t0001 | a0000c0006t0001g0000 | 1 | 238 | 0.0042 | 2 | c.735 others(9): Show |
p.Glu others(5): Show |
CENPVL1 | ENSG00000223591.5 | transcript | ENST00000602548.2 | protein_coding | 1/1 | 736/1620 | 736/819 | 246/272 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CES5A_chr16_55841154_55880373 | 55871624 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18992.hp1 NA18994.hp1 NA19000.hp1 others(1): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0004c0006 | a0001c0002t0005a0002c0003t0007a0004c0006t0005 | a0001c0002t0005g0171a0002c0003t0007g0027a0004c0006t0005g0159 | 4 | 449 | 0.0089 | 0 | c.417 others(5): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 3/12 | chr16 | TogoVar |