view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AADACL3_chr1_12711110_12733760 | 12716215 | C | A | stop_gained | HIGH | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show |
a0002 | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0038others(11): Show | a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 others(26): Show |
73 | 430 | 0.1698 | 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 | |||
ABCB5_chr7_20610667_20762008 | 20626612 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(67): Show |
a0002a0003a0005others(10): Show | a0002c0003a0003c0002a0003c0010others(13): Show | a0002c0003t0001a0003c0002t0001a0003c0002t0002others(19): Show | a0002c0003t0001g0347 a0003c0002t0001g0119 a0003c0002t0001g0148 others(67): Show |
70 | 358 | 0.1955 | 0 | c.108 others(5): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132618633 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00673.hp2 HG01069.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0001g0291 a0001c0001t0001g0292 others(13): Show |
19 | 314 | 0.0605 | 0 | c.141 others(6): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 11/19 | chr3 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134859306 | C | T | stop_gained | HIGH | NA18962.hp2 NA19070.hp1 NA19084.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0021 a0003c0003t0001g0268 |
3 | 380 | 0.0079 | 0 | c.148 others(3): Show |
p.Arg others(3): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3/10 | 215/1252 | 148/1011 | 50/336 | chr2 | TogoVar | |||
ACTN3_chr11_66541903_66568334 | 66560624 | C | T | stop_gained | HIGH | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show |
a0002a0013a0014others(1): Show | a0002c0002a0002c0008a0002c0011others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001others(8): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(55): Show |
150 | 398 | 0.3769 | 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 | |||
ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(369): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(173): Show |
372 | 388 | 0.9588 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ANKRD27_chr19_32592006_32680180 | 32643571 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18950.hp1 NA19070.hp1 |
a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0106 a0002c0012t0002g0107 |
2 | 346 | 0.0058 | 0 | c.585 others(5): Show |
ANKRD27 | ENSG00000105186.16 | transcript | ENST00000306065.9 | protein_coding | 6/28 | chr19 | TogoVar | |||||||
ANKRD36_chr2_97108153_97269521 | 97113741 | T | A | start_lost | HIGH | HG00597.hp2 HG02071.hp1 HG02083.hp2 others(13): Show |
a0004 | a0004c0004a0004c0009a0004c0017 | a0004c0004t0002a0004c0009t0002a0004c0017t0002 | a0004c0004t0002g0005 a0004c0004t0002g0180 a0004c0004t0002g0186 others(12): Show |
16 | 210 | 0.0762 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 1/76 | 589/6534 | 2/5748 | 1/1915 | chr2 | TogoVar | |||
ANKRD36_chr2_97108153_97269521 | 97224796 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(143): Show |
a0001a0003a0004others(21): Show | a0001c0001a0001c0029a0001c0032others(33): Show | a0001c0001t0001a0001c0001t0004a0001c0029t0001others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(139): Show |
146 | 210 | 0.6952 | 1 | c.387 others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 66/75 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97264169 | TAGCATTG others(84): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG00099.hp1 HG00423.hp1 HG00597.hp2 others(64): Show |
a0001a0003a0004others(11): Show | a0001c0001a0001c0034a0003c0003others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0034t0001others(18): Show | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0024 others(62): Show |
67 | 210 | 0.3190 | -91 | c.*7- others(100): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 76/76 | 14097 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
API5_chr11_43306996_43349529 | 43335212 | C | CCCTCACC others(96): Show |
frameshift_variant others(1): Show |
HIGH | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 382 | 0.0026 | 103 | c.127 others(115): Show |
p.Thr others(5): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 12/14 | 1449/3726 | 1317/1575 | 439/524 | INFO_REALIGN_3_PRIME | chr11 | 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 | a0003c0003t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0018 others(4): Show |
61 | 422 | 0.1446 | 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(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show |
113 | 402 | 0.2811 | 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(25): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(158): Show |
173 | 352 | 0.4915 | -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(343): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(131): Show |
346 | 412 | 0.8398 | 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 | |||
ASB16_chr17_44165704_44184084 | 44178274 | C | T | stop_gained | HIGH | NA19070.hp2 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0006 | 1 | 360 | 0.0028 | 0 | c.124 others(4): Show |
p.Arg others(4): Show |
ASB16 | ENSG00000161664.7 | transcript | ENST00000293414.6 | protein_coding | 5/5 | 1332/2142 | 1246/1362 | 416/453 | chr17 | TogoVar | |||
ATP6V0D2_chr8_86093910_86159225 | 86151541 | G | T | splice_donor_variant others(1): Show |
HIGH | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 358 | 0.0028 | 0 | c.891 others(5): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 7/7 | chr8 | TogoVar | |||||||
ATP6V1B1_chr2_70930900_70970431 | 70935956 | T | C | start_lost | HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(148): Show |
a0002 | a0002c0003a0002c0006a0002c0008others(18): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003others(21): Show | a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 others(129): Show |
151 | 438 | 0.3447 | 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 | |||
BTNL2_chr6_32388339_32412181 | 32394744 | C | A | stop_gained others(1): Show |
HIGH | HG00438.hp2 HG02015.hp2 HG02129.hp2 others(42): Show |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0001 a0004c0003t0003g0017 a0004c0003t0003g0041 others(7): Show |
45 | 451 | 0.0998 | 0 | c.136 others(4): Show |
p.Glu others(4): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 6/8 | 1418/1564 | 1360/1449 | 454/482 | chr6 | TogoVar | |||
C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(402): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(228): Show |
405 | 412 | 0.9830 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | |||||||
C2orf50_chr2_11128128_11156317 | 11133332 | A | AC | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(32): Show | a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 others(59): Show |
77 | 378 | 0.2037 | 1 | c.-1d others(3): Show |
p.Met others(3): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 1/3 | 208/7902 | 1/489 | 1/162 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
C3orf49_chr3_63814299_63853636 | 63831135 | C | CACACT | frameshift_variant | HIGH | HG00621.hp2 HG00673.hp2 HG02027.hp2 others(17): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 a0003c0003t0001g0027 a0003c0003t0001g0043 others(11): Show |
20 | 386 | 0.0518 | 5 | c.597 others(12): Show |
p.Phe others(5): Show |
C3orf49 | ENSG00000163632.15 | transcript | ENST00000295896.13 | protein_coding | 4/7 | 775/1355 | 602/879 | 201/292 | INFO_REALIGN_3_PRIME | chr3 | 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 | a0001c0001t0001g0032 a0001c0001t0001g0143 a0001c0001t0001g0190 others(21): Show |
24 | 108 | 0.2222 | 14 | c.121 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CALHM6_chr6_116456375_116468771 | 116462154 | G | A | stop_gained | HIGH | NA18945.hp2 NA18975.hp2 NA19005.hp2 others(1): Show |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0001 | 4 | 438 | 0.0091 | 0 | c.225 others(3): Show |
p.Trp others(3): Show |
CALHM6 | ENSG00000188820.13 | transcript | ENST00000368605.3 | protein_coding | 2/3 | 338/1127 | 225/948 | 75/315 | chr6 | TogoVar | |||
CARD8_chr19_48203086_48260912 | 48231760 | C | CTT | frameshift_variant | HIGH | HG00642.hp2 HG01109.hp1 HG02135.hp2 others(16): Show |
a0003 | a0003c0006a0003c0009a0003c0019 | a0003c0006t0003a0003c0006t0007a0003c0006t0016others(3): Show | a0003c0006t0003g0051 a0003c0006t0003g0055 a0003c0006t0003g0152 others(16): Show |
19 | 360 | 0.0528 | 2 | c.440 others(9): Show |
p.Val others(5): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 8/14 | 813/5610 | 441/1614 | 147/537 | chr19 | 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 | a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 others(75): Show |
79 | 217 | 0.3641 | 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(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(132): Show |
260 | 360 | 0.7222 | 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(183): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(67): Show |
186 | 454 | 0.4097 | 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 | |||
CEACAM21_chr19_41571166_41591844 | 41586462 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 others(39): Show |
163 | 392 | 0.4158 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
CELA1_chr12_51323442_51351679 | 51346628 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 others(97): Show |
211 | 404 | 0.5223 | -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 | 133071339 | C | CCCCCCGT others(20284): Show |
frameshift_variant others(1): Show |
HIGH | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 20291 | c.193 others(20300): Show |
p.Pro others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1954/2381 | 1932/2262 | 644/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071533 | G | GC | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(178): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(57): Show |
181 | 409 | 0.4425 | 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 | 133071567 | G | GC | frameshift_variant | HIGH | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(82): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(31): Show |
85 | 406 | 0.2094 | 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 | ||
CEP152_chr15_48732938_48816069 | 48741600 | C | A | splice_donor_variant others(1): Show |
HIGH | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 340 | 0.0029 | 0 | c.409 others(6): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 26/26 | chr15 | TogoVar | |||||||
CFAP90_chr5_7825378_7856133 | 7835432 | G | A | stop_gained | HIGH | HG02132.hp2 NA18939.hp2 NA18946.hp1 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 a0003c0003t0001g0133 a0003c0003t0001g0144 |
16 | 418 | 0.0383 | 0 | c.214 others(3): Show |
p.Arg others(3): Show |
CFAP90 | ENSG00000215217.7 | transcript | ENST00000399810.7 | protein_coding | 2/3 | 326/2028 | 214/444 | 72/147 | chr5 | TogoVar | |||
COG6_chr13_39650662_39757628 | 39679963 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show |
134 | 368 | 0.3641 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130471876 | AT | A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(100): Show |
a0001a0004a0006others(17): Show | a0001c0001a0001c0014a0001c0025others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0001t0002g0014 others(97): Show |
103 | 290 | 0.3552 | -1 | c.777 others(5): Show |
p.Leu others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/41 | 8110/8969 | 7772/7845 | 2591/2614 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0016a0001c0029others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(268): Show |
275 | 343 | 0.8017 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88467516 | G | A | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(239): Show |
a0001a0005a0007others(8): Show | a0001c0001a0001c0004a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(14): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(233): Show |
242 | 384 | 0.6302 | 0 | c.215 others(4): Show |
p.Trp others(4): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | 2617/2695 | 2159/2205 | 720/734 | chr3 | TogoVar | |||
CYLC2_chr9_102990333_103023488 | 103016962 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(408): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(258): Show |
411 | 446 | 0.9215 | 0 | c.*89 others(6): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 7/7 | chr9 | TogoVar | |||||||
CYP2F1_chr19_41109432_41133381 | 41116202 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0002 | a0002c0002a0002c0003a0002c0005others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0011others(17): Show | a0002c0002t0001g0034 a0002c0002t0002g0003 a0002c0002t0002g0007 others(89): Show |
114 | 372 | 0.3065 | 1 | c.15d others(3): Show |
p.Thr others(3): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 2/10 | 88/1847 | 16/1476 | 6/491 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CYP4A22_chr1_47132441_47154727 | 47144551 | TG | T | frameshift_variant | HIGH | HG00280.hp1 HG00408.hp2 HG02080.hp1 others(12): Show |
a0006 | a0006c0007 | a0006c0007t0004 | a0006c0007t0004g0008 a0006c0007t0004g0010 |
15 | 438 | 0.0342 | -1 | c.901 others(4): Show |
p.Glu others(5): Show |
CYP4A22 | ENSG00000162365.13 | transcript | ENST00000371891.8 | protein_coding | 8/12 | 946/2535 | 901/1560 | 301/519 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
DAZ4_chrY_24828919_24912040 | 24861624 | GTGAAGTA others(4773): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01074.hp2 others(25): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0001a0002c0002t0001a0004c0005t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0017 others(25): Show |
28 | 35 | 0.8000 | -4780 | c.121 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ4_chrY_24828919_24912040 | 24868531 | CTCTAATT others(7126): Show |
C | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01069.hp1 others(19): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0005a0005c0004others(4): Show | a0001c0001t0001a0004c0005t0001a0005c0004t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0017 others(19): Show |
22 | 40 | 0.5500 | -7133 | c.142 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(17): Show |
268 | 454 | 0.5903 | 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 | |||
DEFB126_chr20_137590_150751 | 145669 | ACC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(229): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0003c0006others(2): Show | a0002c0002t0001a0003c0003t0001a0003c0006t0001others(2): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(16): Show |
232 | 458 | 0.5066 | -2 | c.317 others(9): Show |
p.Pro others(5): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 356/434 | 317/336 | 106/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
DHDH_chr19_48928699_48949969 | 48942517 | C | T | stop_gained | HIGH | HG00621.hp2 HG00738.hp2 HG01261.hp1 others(26): Show |
a0004a0013a0014 | a0004c0004a0013c0018a0014c0022 | a0004c0004t0001a0013c0018t0001a0014c0022t0001 | a0004c0004t0001g0004 a0004c0004t0001g0022 a0004c0004t0001g0053 others(10): Show |
29 | 434 | 0.0668 | 0 | c.697 others(3): Show |
p.Gln others(4): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 5/7 | 720/1064 | 697/1005 | 233/334 | chr19 | TogoVar | |||
DMBT1_chr10_122555754_122648736 | 122601776 | CGTTCTTG others(16213): Show |
C | exon_loss_variant | HIGH | HG00673.hp1 HG01192.hp2 HG02027.hp1 others(24): Show |
a0004a0013a0035others(2): Show | a0004c0005a0004c0028a0013c0015others(3): Show | a0004c0005t0001a0004c0028t0002a0013c0015t0001others(3): Show | a0004c0005t0001g0002 a0004c0005t0001g0003 a0004c0005t0001g0026 others(16): Show |
27 | 280 | 0.0964 | -16220 | c.335 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3373/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122601959 | TGTCAGCC others(4052): Show |
T | exon_loss_variant | HIGH | HG00673.hp2 HG01081.hp2 HG01099.hp2 others(18): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0002a0005c0006others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0157 a0001c0001t0002g0159 others(17): Show |
21 | 226 | 0.0929 | -4059 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(160): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(16): Show |
163 | 402 | 0.4055 | -1 | c.234 others(4): Show |
p.Ala others(4): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1/4 | 309/1320 | 234/1005 | 78/334 | chr10 | TogoVar |