| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12213): Show |
frameshift_variant others(1): Show |
HIGH | NA19085.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0077 | 1 | 393 | 0.0025 | 12220 | c.236 others(12227): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | HG02165.hp1 NA18964.hp1 NA18968.hp2 others(2): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0016 a0002c0004t0001g0016 a0002c0004t0001g0076 |
5 | 397 | 0.0126 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12210): Show |
frameshift_variant others(1): Show |
HIGH | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 393 | 0.0025 | 12217 | c.236 others(12224): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | NA18945.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0078 | 1 | 393 | 0.0025 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | NA18747.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0079 | 1 | 393 | 0.0025 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | HG01361.hp2 HG02015.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0084 a0002c0004t0001g0086 |
2 | 394 | 0.0051 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | HG02074.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0087 | 1 | 393 | 0.0025 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12210): Show |
frameshift_variant others(1): Show |
HIGH | HG04199.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0080 | 1 | 393 | 0.0025 | 12217 | c.236 others(12224): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | HG00673.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0088 | 1 | 393 | 0.0025 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(24426): Show |
frameshift_variant others(1): Show |
HIGH | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 393 | 0.0025 | 24433 | c.236 others(24440): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12219): Show |
frameshift_variant others(1): Show |
HIGH | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 393 | 0.0025 | 12226 | c.236 others(12233): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | NA18998.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0083 | 1 | 393 | 0.0025 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12205): Show |
frameshift_variant others(1): Show |
HIGH | NA18949.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0090 | 1 | 393 | 0.0025 | 12212 | c.236 others(12219): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| CLTCL1_chr22_19174473_19296719 | 19183486 | AAGCAGGT others(3): Show |
A | frameshift_variant | HIGH | HG01975.hp1 NA19068.hp1 |
a0013 | a0013c0014 | a0013c0014t0002 | a0013c0014t0002g0057 a0013c0014t0002g0063 |
2 | 344 | 0.0058 | -10 | c.472 others(19): Show |
p.Tyr others(6): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 30/33 | 4808/5518 | 4721/4923 | 1574/1640 | chr22 | TogoVar | |||
| CLUH_chr17_2684387_2716764 | 2698290 | GGGCCGTG others(19): Show |
G | frameshift_variant | HIGH | NA19082.hp1 | a0018 | a0018c0026 | a0018c0026t0001 | a0018c0026t0001g0079 | 1 | 418 | 0.0024 | -26 | c.154 others(35): Show |
p.Asp others(5): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 10/26 | 1669/5357 | 1541/4047 | 514/1348 | chr17 | TogoVar | |||
| CLYBL_chr13_99601690_99897570 | 99606717 | AGGGCGGC others(18): Show |
A | frameshift_variant | HIGH | HG02572.hp1 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0109 | 1 | 216 | 0.0046 | -25 | c.25_ others(30): Show |
p.Ala others(3): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/9 | 31/1181 | 25/1023 | 9/340 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||
| CMKLR2_chr2_206170316_206218371 | 206177196 | CATAGGAA others(13): Show |
C | frameshift_variant | HIGH | HG02257.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0015 | 1 | 320 | 0.0031 | -20 | c.32_ others(25): Show |
p.Glu others(4): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2/2 | 144/2025 | 32/1068 | 11/355 | chr2 | TogoVar | |||
| CMTM1_chr16_66561439_66584135 | 66566827 | T | TAAATGAG others(9): Show |
frameshift_variant others(1): Show |
HIGH | HG01256.hp2 HG01258.hp1 HG01358.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0012 | 5 | 396 | 0.0126 | 16 | c.318 others(23): Show |
p.Glu others(5): Show |
CMTM1 | ENSG00000089505.18 | transcript | ENST00000379500.7 | protein_coding | 1/4 | 409/1070 | 334/861 | 112/286 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
| CNGA4_chr11_6234089_6249479 | 6244473 | G | GCTGCAAC others(31): Show |
frameshift_variant | HIGH | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 410 | 0.0024 | 38 | c.168 others(47): Show |
p.Glu others(5): Show |
CNGA4 | ENSG00000132259.13 | transcript | ENST00000379936.3 | protein_coding | 6/6 | 1802/1916 | 1684/1728 | 562/575 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
| CNKSR1_chr1_26172491_26194884 | 26185173 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00738.hp2 HG01109.hp1 others(10): Show |
a0004a0016a0019 | a0004c0005a0004c0017a0016c0015others(1): Show | a0004c0005t0001a0004c0005t0002a0004c0017t0001others(2): Show | a0004c0005t0001g0001 a0004c0005t0001g0002 a0004c0005t0001g0004 others(9): Show |
13 | 370 | 0.0351 | 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 | ||
| CNOT1_chr16_58514951_58634826 | 58581514 | T | TTCTAAAA others(4): Show |
frameshift_variant others(1): Show |
HIGH | NA18984.hp2 | a0009 | a0009c0020 | a0009c0020t0001 | a0009c0020t0001g0152 | 1 | 306 | 0.0033 | 11 | c.104 others(23): Show |
p.Asn others(5): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 11/49 | 1318/8411 | 1045/7131 | 349/2376 | chr16 | TogoVar | |||
| COG8_chr16_69321428_69344564 | 69339282 | T | TGAAGGGG others(36): Show |
frameshift_variant | HIGH | NA18998.hp2 | a0009 | a0009c0013 | a0009c0013t0002 | a0009c0013t0002g0136 | 1 | 358 | 0.0028 | 43 | c.270 others(50): Show |
p.Ile others(4): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 1/6 | 282/4629 | 270/1839 | 90/612 | chr16 | TogoVar | |||
| COL15A1_chr9_98938907_99075787 | 99003558 | A | ACGGAGAA others(46): Show |
frameshift_variant others(1): Show |
HIGH | NA18985.hp2 | a0054 | a0054c0058 | a0054c0058t0002 | a0054c0058t0002g0144 | 1 | 308 | 0.0032 | 53 | c.117 others(62): Show |
p.Asn others(5): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 8/42 | 1334/5223 | 1179/4167 | 393/1388 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| COL18A1_chr21_45400165_45518720 | 45493559 | CCCAGAAA others(49): Show |
C | frameshift_variant others(3): Show |
HIGH | HG04115.hp1 | a0027 | a0027c0083 | a0027c0083t0002 | a0027c0083t0002g0154 | 1 | 290 | 0.0034 | -56 | c.233 others(68): Show |
p.Gln others(5): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 26/42 | 2405/5408 | 2339/4020 | 780/1339 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
| COL19A1_chr6_69861556_70217468 | 69927924 | AGGCCTTC others(3): Show |
A | frameshift_variant | HIGH | HG02145.hp1 | a0007 | a0007c0014 | a0007c0014t0023 | a0007c0014t0023g0110 | 1 | 180 | 0.0056 | -10 | c.283 others(17): Show |
p.Gly others(4): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 5/51 | 400/8740 | 283/3429 | 95/1142 | chr6 | TogoVar | |||
| COL1A2_chr7_94389895_94436227 | 94429215 | TCCAAGGA others(6): Show |
T | frameshift_variant | HIGH | NA18997.hp2 | a0014 | a0014c0028 | a0014c0028t0002 | a0014c0028t0002g0207 | 1 | 436 | 0.0023 | -13 | c.374 others(22): Show |
p.Ser others(6): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 51/52 | 3877/5072 | 3740/4101 | 1247/1366 | chr7 | TogoVar | |||
| COL4A2_chr13_110302284_110518209 | 110493115 | GAAATAAC others(27): Show |
G | frameshift_variant others(3): Show |
HIGH | HG03516.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0202 | 1 | 370 | 0.0027 | -34 | c.356 others(46): Show |
p.Gly others(6): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 39/48 | 3563/5139 | 1188/1712 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||
| COL4A2_chr13_110302284_110518209 | 110506330 | TAGGTGCA others(34): Show |
T | frameshift_variant others(3): Show |
HIGH | HG03490.hp1 HG03492.hp1 |
a0003 | a0003c0010 | a0003c0010t0004 | a0003c0010t0004g0002 | 2 | 370 | 0.0054 | -41 | c.440 others(53): Show |
p.Ala others(6): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 46/48 | 4403/5139 | 1468/1712 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||
| COL4A3_chr2_227159624_227319792 | 227311808 | AAAGCTGG others(24): Show |
A | frameshift_variant | HIGH | NA19083.hp1 | a0035 | a0035c0052 | a0035c0052t0001 | a0035c0052t0001g0325 | 1 | 342 | 0.0029 | -31 | c.495 others(40): Show |
p.Lys others(6): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 52/52 | 5055/8038 | 4952/5013 | 1651/1670 | chr2 | 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 | ||
| COL6A6_chr3_130512177_130682042 | 130635724 | C | CAGGAGAG others(10): Show |
frameshift_variant others(1): Show |
HIGH | NA19086.hp1 | a0046 | a0046c0068 | a0046c0068t0002 | a0046c0068t0002g0077 | 1 | 262 | 0.0038 | 17 | c.505 others(26): Show |
p.Gly others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/37 | 5327/8689 | 5075/6792 | 1692/2263 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
| COL9A3_chr20_62812050_62846159 | 62822600 | GGAGTCCT others(4): Show |
G | frameshift_variant | HIGH | NA19003.hp2 | a0023 | a0023c0031 | a0023c0031t0001 | a0023c0031t0001g0202 | 1 | 410 | 0.0024 | -11 | c.490 others(18): Show |
p.Val others(5): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 10/32 | 505/2497 | 490/2055 | 164/684 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
| COLGALT1_chr19_17550649_17588157 | 17577397 | C | CG | frameshift_variant | HIGH | HG01099.hp2 HG01109.hp1 NA18956.hp2 others(5): Show |
a0002 | a0002c0006a0002c0010a0002c0014 | a0002c0006t0001a0002c0006t0009a0002c0006t0014others(5): Show | a0002c0006t0001g0210 a0002c0006t0009g0158 a0002c0006t0014g0199 others(5): Show |
8 | 394 | 0.0203 | 1 | c.106 others(5): Show |
p.Glu others(5): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 8/12 | 1132/3647 | 1067/1869 | 356/622 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
| COPS6_chr7_100083969_100097187 | 100090902 | C | CTTCCTGT others(9): Show |
frameshift_variant others(1): Show |
HIGH | NA19006.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0003 | 1 | 420 | 0.0024 | 16 | c.489 others(23): Show |
p.Glu others(5): Show |
COPS6 | ENSG00000168090.10 | transcript | ENST00000303904.8 | protein_coding | 6/10 | 527/1404 | 505/984 | 169/327 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| COQ6_chr14_73945302_73968670 | 73958272 | TTGTTGGT others(9): Show |
T | frameshift_variant others(3): Show |
HIGH | NA19075.hp2 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0074 | 1 | 454 | 0.0022 | -16 | c.609 others(26): Show |
p.Leu others(5): Show |
COQ6 | ENSG00000119723.17 | transcript | ENST00000334571.7 | protein_coding | 5/12 | 640/2109 | 609/1407 | 203/468 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
| CORO1B_chr11_67430510_67448476 | 67439841 | A | AACCTGGG others(24): Show |
frameshift_variant others(1): Show |
HIGH | HG02647.hp2 | a0006 | a0006c0009 | a0006c0009t0004 | a0006c0009t0004g0034 | 1 | 352 | 0.0028 | 31 | c.100 others(43): Show |
p.Phe others(5): Show |
CORO1B | ENSG00000172725.14 | transcript | ENST00000341356.10 | protein_coding | 9/11 | 1084/4411 | 1009/1470 | 337/489 | chr11 | TogoVar | |||
| COX7B2_chr4_46729827_46914245 | 46734988 | G | GGGATAGG others(9): Show |
frameshift_variant | HIGH | NA18972.hp2 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0232 | 1 | 298 | 0.0034 | 16 | c.189 others(23): Show |
p.Pro others(4): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 3/3 | 394/556 | 204/246 | 68/81 | chr4 | TogoVar | |||
| COX8C_chr14_93342182_93353356 | 93347347 | C | CACGCAGG others(4): Show |
frameshift_variant | HIGH | NA19043.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0013 | 1 | 426 | 0.0023 | 11 | c.79_ others(16): Show |
p.Arg others(4): Show |
COX8C | ENSG00000187581.3 | transcript | ENST00000342144.3 | protein_coding | 1/2 | 167/542 | 80/219 | 27/72 | chr14 | TogoVar | |||
| CPNE1_chr20_35621044_35669900 | 35627312 | C | CA | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp2 HG00642.hp1 others(43): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0011t0001 | a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 others(40): Show |
46 | 270 | 0.1704 | 1 | c.120 others(5): Show |
p.Ala others(5): Show |
CPNE1 | ENSG00000214078.13 | transcript | ENST00000397443.7 | protein_coding | 14/16 | 1344/1952 | 1203/1614 | 401/537 | chr20 | TogoVar | |||
| CPNE3_chr8_86509435_86566498 | 86548378 | TAATGAGT others(36): Show |
T | frameshift_variant | HIGH | HG00609.hp2 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0070 | 1 | 338 | 0.0030 | -43 | c.960 others(51): Show |
p.Asn others(5): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 12/17 | 1115/4857 | 960/1614 | 320/537 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
| CPNE7_chr16_89570758_89602246 | 89585766 | AGGCCTTT others(67): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18747.hp2 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0246 | 1 | 346 | 0.0029 | -74 | c.768 others(84): Show |
p.Phe others(5): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 7/15 | 908/2442 | 768/1677 | 256/558 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
| CPT1B_chr22_50563861_50583427 | 50571519 | A | ACTCTCGA others(16): Show |
frameshift_variant | HIGH | NA19003.hp1 | a0011 | a0011c0023 | a0011c0023t0001 | a0011c0023t0001g0056 | 1 | 412 | 0.0024 | 23 | c.157 others(34): Show |
p.Tyr others(5): Show |
CPT1B | ENSG00000205560.13 | transcript | ENST00000312108.12 | protein_coding | 14/20 | 1656/2603 | 1595/2319 | 532/772 | chr22 | TogoVar | |||
| CPT1C_chr19_49686116_49718731 | 49705086 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00735.hp2 others(14): Show |
a0002a0004 | a0002c0003a0002c0005a0004c0007 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(3): Show | a0002c0003t0001g0139 a0002c0003t0001g0142 a0002c0003t0001g0221 others(14): Show |
17 | 348 | 0.0489 | 1 | c.853 others(4): Show |
p.Arg others(5): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 9/20 | 1162/2846 | 854/2412 | 285/803 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
| CRELD1_chr3_9928834_9950406 | 9940914 | A | AG | frameshift_variant | HIGH | HG00673.hp1 HG01175.hp2 HG01255.hp1 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0007 others(7): Show |
10 | 400 | 0.0250 | 1 | c.530 others(4): Show |
p.Ser others(5): Show |
CRELD1 | ENSG00000163703.20 | transcript | ENST00000452070.6 | protein_coding | 6/11 | 637/2196 | 531/1263 | 177/420 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
| CROCC2_chr2_240901336_240998311 | 240932891 | C | CG | frameshift_variant | HIGH | HG00735.hp1 HG01952.hp1 HG02559.hp2 others(6): Show |
a0011 | a0011c0019a0011c0038a0011c0042others(5): Show | a0011c0019t0001a0011c0038t0001a0011c0042t0002others(5): Show | a0011c0019t0001g0213 a0011c0019t0001g0223 a0011c0038t0001g0068 others(6): Show |
9 | 346 | 0.0260 | 1 | c.123 others(5): Show |
p.Trp others(5): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 9/32 | 1415/5370 | 1237/4962 | 413/1653 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
| CRTC3_chr15_90524923_90650345 | 90638514 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00558.hp2 HG00735.hp1 others(28): Show |
a0003a0004 | a0003c0003a0003c0013a0003c0014others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(9): Show | a0003c0003t0001g0022 a0003c0003t0001g0045 a0003c0003t0001g0060 others(28): Show |
31 | 274 | 0.1131 | 1 | c.134 others(5): Show |
p.Tyr others(5): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 12/15 | 1490/5214 | 1341/1860 | 447/619 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
| CRYAA_chr21_43164008_43177805 | 43172111 | A | AC | frameshift_variant | HIGH | HG00673.hp2 HG00741.hp1 HG01978.hp2 others(1): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001a0002c0004t0007 | a0002c0003t0001g0001 a0002c0003t0001g0005 a0002c0004t0001g0016 others(1): Show |
4 | 40 | 0.1000 | 1 | c.355 others(4): Show |
p.Arg others(5): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 448/1139 | 356/522 | 119/173 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
| CRYAA_chr21_43164008_43177805 | 43172123 | C | CCAACGTG others(16): Show |
frameshift_variant | HIGH | HG00609.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0003 | 1 | 40 | 0.0250 | 23 | c.367 others(30): Show |
p.Cys others(5): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 482/1139 | 390/522 | 130/173 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
| CRYBB1_chr22_26594278_26623027 | 26616260 | G | GAAGGGGG others(7): Show |
frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0164 | 1 | 424 | 0.0024 | 14 | c.59_ others(19): Show |
p.Asp others(4): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 2/6 | 129/1041 | 59/759 | 20/252 | chr22 | TogoVar | |||
| CSE1L_chr20_49041312_49101949 | 49068771 | GTTTTCTT others(19): Show |
G | frameshift_variant | HIGH | NA18956.hp1 | a0005 | a0005c0003 | a0005c0003t0002 | a0005c0003t0002g0049 | 1 | 384 | 0.0026 | -26 | c.625 others(33): Show |
p.Phe others(5): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 7/25 | 748/3550 | 625/2916 | 209/971 | chr20 | TogoVar |