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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOT8_chr20_45836721_45862392 | 45857313 | C | CATCT | frameshift_variant others(1): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG02165.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0022a0001c0002t0001g0035others(3): Show | 11 | 422 | 0.0261 | 4 | c.-2_ others(8): Show |
p.Met others(3): Show |
ACOT8 | ENSG00000101473.17 | transcript | ENST00000217455.9 | protein_coding | 1/6 | 79/1154 | 2/960 | 1/319 | chr20 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20465682 | C | T | stop_gained | HIGH | HG00673.hp2 HG02071.hp1 HG02083.hp2 others(31): Show |
a0006 | a0006c0006a0006c0016 | a0006c0006t0002a0006c0006t0003a0006c0006t0009others(2): Show | a0006c0006t0002g0036a0006c0006t0002g0037a0006c0006t0002g0270others(28): Show | 34 | 436 | 0.0780 | 0 | c.343 others(3): Show |
p.Arg others(4): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 3/14 | 512/2894 | 343/1734 | 115/577 | chr16 | TogoVar | ||
ACTR3C_chr7_150242212_150328545 | 150286477 | G | A | stop_gained | HIGH | HG00741.hp1 HG02698.hp1 HG02976.hp1 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0095a0003c0003t0001g0136a0003c0003t0001g0177others(5): Show | 8 | 294 | 0.0272 | 0 | c.361 others(3): Show |
p.Gln others(4): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 5/8 | 489/1157 | 361/633 | 121/210 | chr7 | TogoVar | ||
ADAMTS16_chr5_5135330_5325304 | 5200168 | C | A | stop_gained | HIGH | NA18978.hp2 | a0017 | a0017c0051 | a0017c0051t0001 | a0017c0051t0001g0009 | 1 | 332 | 0.0030 | 0 | c.135 others(4): Show |
p.Cys others(4): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 9/23 | 1488/4979 | 1350/3675 | 450/1224 | chr5 | TogoVar | ||
ADGRA2_chr8_37791883_37849896 | 37841784 | C | CG | frameshift_variant | HIGH | HG00408.hp2 HG00673.hp1 HG01192.hp1 others(10): Show |
a0004a0008a0015others(1): Show | a0004c0011a0004c0015a0008c0019others(4): Show | a0004c0011t0001a0004c0015t0001a0008c0019t0001others(4): Show | a0004c0011t0001g0041a0004c0011t0001g0073a0004c0011t0001g0306others(10): Show | 13 | 370 | 0.0351 | 1 | c.345 others(5): Show |
p.Ala others(6): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 19/19 | 3838/6944 | 3452/4017 | 1151/1338 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
AGTR2_chrX_116165744_116179974 | 116172323 | AC | A | frameshift_variant | HIGH | NA18978.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0012 | 1 | 332 | 0.0030 | -1 | c.45d others(3): Show |
p.Ser others(4): Show |
AGTR2 | ENSG00000180772.8 | transcript | ENST00000371906.5 | protein_coding | 3/3 | 213/2862 | 45/1092 | 15/363 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AGTR2_chrX_116165744_116179974 | 116172674 | AT | A | frameshift_variant | HIGH | NA18978.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0012 | 1 | 332 | 0.0030 | -1 | c.402 others(4): Show |
p.Phe others(5): Show |
AGTR2 | ENSG00000180772.8 | transcript | ENST00000371906.5 | protein_coding | 3/3 | 570/2862 | 402/1092 | 134/363 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AGTR2_chrX_116165744_116179974 | 116172819 | AT | A | frameshift_variant | HIGH | NA18978.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0012 | 1 | 332 | 0.0030 | -1 | c.543 others(4): Show |
p.Arg others(5): Show |
AGTR2 | ENSG00000180772.8 | transcript | ENST00000371906.5 | protein_coding | 3/3 | 711/2862 | 543/1092 | 181/363 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AKNAD1_chr1_108810901_108862094 | 108825266 | AAGATGAT others(4064): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00558.hp1 HG01070.hp1 HG01074.hp2 others(29): Show |
a0004a0031 | a0004c0006a0004c0008a0004c0043others(2): Show | a0004c0006t0001a0004c0008t0001a0004c0008t0002others(3): Show | a0004c0006t0001g0018a0004c0006t0001g0026a0004c0006t0001g0028others(23): Show | 32 | 398 | 0.0804 | -4071 | c.183 others(19): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 11/16 | chr1 | 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 | ||
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 | |||||
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 | |
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 | ||
ATP4A_chr19_35545031_35568658 | 35563432 | A | AC | frameshift_variant | HIGH | HG01175.hp2 HG01346.hp2 HG01952.hp1 others(8): Show |
a0003 | a0003c0006a0003c0011a0003c0016others(3): Show | a0003c0006t0001a0003c0011t0002a0003c0016t0001others(3): Show | a0003c0006t0001g0071a0003c0006t0001g0073a0003c0006t0001g0074others(7): Show | 11 | 426 | 0.0258 | 1 | c.107 others(4): Show |
p.Gly others(4): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 2/22 | 136/3721 | 107/3108 | 36/1035 | 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 | ||||||
BEND2_chrX_18157931_18225886 | 18165127 | A | AG | frameshift_variant | HIGH | NA18978.hp2 | a0008 | a0008c0008 | a0008c0008t0009 | a0008c0008t0009g0287 | 1 | 295 | 0.0034 | 1 | c.228 others(5): Show |
p.Leu others(5): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 14/14 | 2417/4614 | 2281/2400 | 761/799 | chrX | TogoVar | ||
BTAF1_chr10_91918770_92036437 | 91994534 | G | T | splice_acceptor_variant others(1): Show |
HIGH | NA18978.hp2 | a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0304 | 1 | 330 | 0.0030 | 0 | c.320 others(6): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 22/37 | chr10 | 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 | ||
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 | ||||||
CBLL2_chrX_22267913_22279461 | 22273107 | G | GGGACA | frameshift_variant | HIGH | NA18978.hp1 | a0011 | a0011c0006 | a0011c0006t0001 | a0011c0006t0001g0000 | 1 | 346 | 0.0029 | 5 | c.117 others(12): Show |
p.Ile others(4): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 1/1 | 201/1549 | 122/1278 | 41/425 | INFO_REALIGN_3_PRIME | chrX | 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 | ||
CD36_chr7_80633642_80684274 | 80673379 | CTATATTG others(7): Show |
C | frameshift_variant | HIGH | NA18956.hp1 NA18978.hp1 |
a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0071a0004c0007t0004g0074 | 2 | 392 | 0.0051 | -14 | c.122 others(23): Show |
p.Tyr others(5): Show |
CD36 | ENSG00000135218.19 | transcript | ENST00000447544.7 | protein_coding | 13/15 | 1514/4598 | 1226/1419 | 409/472 | INFO_REALIGN_3_PRIME | chr7 | 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 | ||
CHIT1_chr1_203211079_203234673 | 203217822 | C | CAGACCAT others(17): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show |
a0001a0009a0013others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(41): Show | 175 | 484 | 0.3616 | 24 | c.104 others(33): Show |
p.Val others(37): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1109/2248 | 1072/1401 | 358/466 | chr1 | TogoVar | ||
CLDN34_chrX_9962358_9973352 | 9967491 | A | AC | frameshift_variant | HIGH | NA18978.hp2 NA18985.hp1 |
a0004 | a0004c0006a0004c0007 | a0004c0006t0006a0004c0007t0001 | a0004c0006t0006g0000a0004c0007t0001g0000 | 2 | 330 | 0.0061 | 1 | c.140 others(4): Show |
p.Gly others(4): Show |
CLDN34 | ENSG00000234469.4 | transcript | ENST00000445307.4 | protein_coding | 1/1 | 141/995 | 141/645 | 47/214 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CLDN34_chrX_9962358_9973352 | 9967798 | G | GA | frameshift_variant | HIGH | NA18978.hp2 | a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0000 | 1 | 330 | 0.0030 | 1 | c.443 others(4): Show |
p.Asn others(5): Show |
CLDN34 | ENSG00000234469.4 | transcript | ENST00000445307.4 | protein_coding | 1/1 | 444/995 | 444/645 | 148/214 | INFO_REALIGN_3_PRIME | chrX | 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 | |||||
COL6A2_chr21_46093112_46134801 | 46125455 | A | AC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(17): Show | a0001c0001t0001g0035a0001c0001t0001g0114a0001c0001t0001g0155others(80): Show | 100 | 372 | 0.2688 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL9A2_chr1_40295489_40322286 | 40307478 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(38): Show |
a0003a0008a0009others(1): Show | a0003c0005a0003c0008a0003c0028others(3): Show | a0003c0005t0001a0003c0008t0001a0003c0028t0001others(3): Show | a0003c0005t0001g0004a0003c0005t0001g0045a0003c0005t0001g0046others(19): Show | 41 | 438 | 0.0936 | 0 | c.976 others(3): Show |
p.Gln others(4): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 19/32 | 1065/2852 | 976/2070 | 326/689 | chr1 | TogoVar | ||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0021a0001c0037others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(270): Show | 276 | 360 | 0.7667 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CST11_chr20_23445412_23457876 | 23452607 | G | A | stop_gained | HIGH | NA18952.hp1 NA18978.hp2 NA18980.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0014 | 4 | 446 | 0.0090 | 0 | c.205 others(3): Show |
p.Arg others(3): Show |
CST11 | ENSG00000125831.10 | transcript | ENST00000377009.8 | protein_coding | 1/3 | 270/576 | 205/417 | 69/138 | chr20 | TogoVar | ||
CT47C1_chrX_119067993_119081765 | 119073387 | C | CG | frameshift_variant | HIGH | NA18978.hp2 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0001 | 1 | 310 | 0.0032 | 1 | c.166 others(4): Show |
p.Glu others(4): Show |
CT47C1 | ENSG00000277535.4 | transcript | ENST00000620151.4 | protein_coding | 1/3 | 400/1772 | 167/975 | 56/324 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CT47C1_chrX_119067993_119081765 | 119073429 | C | CCT | frameshift_variant | HIGH | NA18978.hp2 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0001 | 1 | 310 | 0.0032 | 2 | c.205 others(9): Show |
p.Pro others(4): Show |
CT47C1 | ENSG00000277535.4 | transcript | ENST00000620151.4 | protein_coding | 1/3 | 439/1772 | 206/975 | 69/324 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CT47C1_chrX_119067993_119081765 | 119073438 | T | TG | frameshift_variant | HIGH | NA18978.hp2 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0001 | 1 | 310 | 0.0032 | 1 | c.216 others(4): Show |
p.Asn others(4): Show |
CT47C1 | ENSG00000277535.4 | transcript | ENST00000620151.4 | protein_coding | 1/3 | 450/1772 | 217/975 | 73/324 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CT47C1_chrX_119067993_119081765 | 119073769 | G | GC | frameshift_variant | HIGH | NA18978.hp2 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0001 | 1 | 310 | 0.0032 | 1 | c.546 others(4): Show |
p.Ala others(5): Show |
CT47C1 | ENSG00000277535.4 | transcript | ENST00000620151.4 | protein_coding | 1/3 | 780/1772 | 547/975 | 183/324 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CT47C1_chrX_119067993_119081765 | 119073803 | T | TC | frameshift_variant | HIGH | NA18978.hp2 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0001 | 1 | 310 | 0.0032 | 1 | c.580 others(4): Show |
p.Gln others(5): Show |
CT47C1 | ENSG00000277535.4 | transcript | ENST00000620151.4 | protein_coding | 1/3 | 814/1772 | 581/975 | 194/324 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CTU1_chr19_51092606_51113409 | 51098802 | C | CG | frameshift_variant | HIGH | HG01978.hp1 HG01993.hp1 HG02647.hp1 others(11): Show |
a0000 | a0000c0005a0000c0007a0000c0011others(1): Show | a0000c0005t0001a0000c0005t0007a0000c0005t0014others(6): Show | a0000c0005t0001g0150a0000c0005t0001g0203a0000c0005t0007g0163others(11): Show | 14 | 454 | 0.0308 | 1 | c.845 others(4): Show |
p.Arg others(5): Show |
CTU1 | ENSG00000142544.7 | transcript | ENST00000421832.3 | protein_coding | 3/3 | 929/2126 | 845/1047 | 282/348 | chr19 | TogoVar | ||
CYP21A2_chr6_32033415_32046644 | 32040182 | G | GT | frameshift_variant | HIGH | HG00544.hp1 HG00738.hp1 HG03688.hp1 others(6): Show |
a0011a0017a0027others(2): Show | a0011c0023a0011c0024a0017c0052others(4): Show | a0011c0023t0001a0011c0024t0001a0017c0052t0002others(4): Show | a0011c0023t0001g0011a0011c0023t0001g0016a0011c0024t0001g0001others(5): Show | 9 | 459 | 0.0196 | 1 | c.923 others(4): Show |
p.Leu others(5): Show |
CYP21A2 | ENSG00000231852.9 | transcript | ENST00000644719.2 | protein_coding | 7/10 | 932/2006 | 924/1488 | 308/495 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CYP4B1_chr1_46794046_46824413 | 46815074 | GAT | G | frameshift_variant others(1): Show |
HIGH | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(66): Show |
a0003 | a0003c0003a0003c0018a0003c0019 | a0003c0003t0001a0003c0003t0003a0003c0018t0003others(1): Show | a0003c0003t0001g0009a0003c0003t0001g0035a0003c0003t0001g0103others(37): Show | 69 | 400 | 0.1725 | -2 | c.884 others(9): Show |
p.Asp others(5): Show |
CYP4B1 | ENSG00000142973.16 | transcript | ENST00000371923.9 | protein_coding | 8/12 | 920/2174 | 884/1539 | 295/512 | chr1 | TogoVar | ||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(28): Show | 268 | 456 | 0.5877 | 0 | c.349 others(3): Show |
p.Arg others(4): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | 589/3135 | 349/735 | 117/244 | chr5 | TogoVar | ||
DEFA4_chr8_6930820_6943306 | 6936727 | C | A | splice_donor_variant others(1): Show |
HIGH | HG02015.hp2 HG02074.hp1 NA18960.hp1 others(15): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005 | 18 | 486 | 0.0370 | 0 | c.172 others(5): Show |
DEFA4 | ENSG00000164821.5 | transcript | ENST00000297435.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
DEPP1_chr10_44971128_44983809 | 44977450 | C | CG | frameshift_variant | HIGH | HG00621.hp2 HG00642.hp1 HG00735.hp1 others(25): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0002a0002c0003t0005others(3): Show | a0002c0003t0001g0009a0002c0003t0001g0012a0002c0003t0001g0022others(6): Show | 28 | 424 | 0.0660 | 1 | c.580 others(4): Show |
p.Arg others(5): Show |
DEPP1 | ENSG00000165507.9 | transcript | ENST00000298295.4 | protein_coding | 2/2 | 797/2120 | 580/639 | 194/212 | chr10 | TogoVar | ||
DHDH_chr19_48928699_48949969 | 48939592 | T | TG | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show |
a0002a0006a0019others(3): Show | a0002c0002a0002c0005a0002c0027others(7): Show | a0002c0002t0001a0002c0005t0001a0002c0027t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0007a0002c0002t0001g0019others(59): Show | 132 | 436 | 0.3028 | 1 | c.517 others(4): Show |
p.Ala others(5): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 4/7 | 541/1064 | 518/1005 | 173/334 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
DHRS11_chr17_36586879_36605804 | 36600156 | CCA | C | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(15): Show | 111 | 385 | 0.2883 | -2 | c.742 others(13): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DIDO1_chr20_62872743_62931505 | 62926430 | ACCGCAGG | A | splice_donor_variant others(2): Show |
HIGH | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0009a0002c0002a0003c0003others(8): Show | a0001c0009t0001a0002c0002t0001a0003c0003t0001others(8): Show | a0001c0009t0001g0024a0002c0002t0001g0267a0003c0003t0001g0021others(55): Show | 66 | 320 | 0.2063 | -7 | c.-20 others(20): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 1/15 | chr20 | TogoVar | ||||||
DLL3_chr19_39493947_39513469 | 39505294 | C | CG | frameshift_variant | HIGH | HG02056.hp1 NA18949.hp2 NA18960.hp1 others(6): Show |
a0005a0009 | a0005c0005a0009c0016 | a0005c0005t0001a0009c0016t0001 | a0005c0005t0001g0002a0005c0005t0001g0033a0005c0005t0001g0041others(4): Show | 9 | 428 | 0.0210 | 1 | c.940 others(4): Show |
p.Val others(5): Show |
DLL3 | ENSG00000090932.11 | transcript | ENST00000356433.10 | protein_coding | 6/9 | 969/2004 | 941/1764 | 314/587 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
DMBT1_chr10_122555754_122648736 | 122581581 | CAGAAATG others(12696): Show |
C | exon_loss_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(37): Show |
a0003a0008a0011others(6): Show | a0003c0005a0003c0017a0003c0086others(10): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(12): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(34): Show | 40 | 282 | 0.1418 | -12703 | c.142 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(12170): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0003a0004a0007others(32): Show | a0003c0005a0003c0017a0003c0086others(38): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(44): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(90): Show | 99 | 282 | 0.3511 | -12177 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |