| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CLEC18C_chr16_70168787_70191895 | 70181907 | C | T | stop_gained | HIGH | HG02486.hp1 | a0016 | a0016c0018 | a0016c0018t0007 | a0016c0018t0007g0122 | 1 | 354 | 0.0028 | 0 | c.514 others(3): Show |
p.Gln others(4): Show |
CLEC18C | ENSG00000157335.21 | transcript | ENST00000541793.7 | protein_coding | 5/13 | 785/1987 | 514/1341 | 172/446 | chr16 | TogoVar | |||
| CLEC2A_chr12_9908227_9937370 | 9913680 | C | T | stop_gained others(1): Show |
HIGH | HG01109.hp1 HG03041.hp1 |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0046 | 2 | 434 | 0.0046 | 0 | c.411 others(3): Show |
p.Trp others(4): Show |
CLEC2A | ENSG00000188393.9 | transcript | ENST00000455827.2 | protein_coding | 5/5 | 452/905 | 411/525 | 137/174 | chr12 | TogoVar | |||
| CLEC4A_chr12_8118617_8143607 | 8136865 | G | A | stop_gained | HIGH | HG03195.hp1 | a0007 | a0007c0005 | a0007c0005t0005 | a0007c0005t0005g0179 | 1 | 456 | 0.0022 | 0 | c.528 others(3): Show |
p.Trp others(4): Show |
CLEC4A | ENSG00000111729.15 | transcript | ENST00000229332.12 | protein_coding | 5/6 | 790/1296 | 528/714 | 176/237 | chr12 | TogoVar | |||
| CLEC4F_chr2_70803643_70825599 | 70817080 | G | A | stop_gained | HIGH | HG02145.hp1 | a0016 | a0016c0025 | a0016c0025t0001 | a0016c0025t0001g0087 | 1 | 412 | 0.0024 | 0 | c.301 others(3): Show |
p.Arg others(4): Show |
CLEC4F | ENSG00000152672.8 | transcript | ENST00000272367.7 | protein_coding | 4/7 | 377/2474 | 301/1770 | 101/589 | chr2 | TogoVar | |||
| CLEC5A_chr7_141922357_141951974 | 141935890 | G | T | stop_gained | HIGH | HG00609.hp2 NA18971.hp1 NA18999.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0017 | a0002c0002t0001g0104 a0002c0002t0001g0131 a0002c0002t0017g0105 |
3 | 384 | 0.0078 | 0 | c.269 others(3): Show |
p.Ser others(3): Show |
CLEC5A | ENSG00000258227.7 | transcript | ENST00000546910.6 | protein_coding | 5/7 | 457/3502 | 269/567 | 90/188 | chr7 | TogoVar | |||
| CLEC6A_chr12_8450962_8483330 | 8477433 | C | A | stop_gained | HIGH | HG03195.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0059 | 1 | 332 | 0.0030 | 0 | c.599 others(3): Show |
p.Ser others(4): Show |
CLEC6A | ENSG00000205846.4 | transcript | ENST00000382073.4 | protein_coding | 6/6 | 749/1646 | 599/630 | 200/209 | chr12 | TogoVar | |||
| CLEC7A_chr12_10111777_10135199 | 10118488 | A | C | stop_gained | HIGH | HG01175.hp1 HG01981.hp2 HG02015.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0011a0002c0002t0028 | a0002c0002t0011g0063 a0002c0002t0011g0130 a0002c0002t0011g0131 others(3): Show |
7 | 448 | 0.0156 | 0 | c.714 others(3): Show |
p.Tyr others(4): Show |
CLEC7A | ENSG00000172243.18 | transcript | ENST00000304084.13 | protein_coding | 6/6 | 831/2542 | 714/744 | 238/247 | chr12 | TogoVar | |||
| CLEC9A_chr12_10025682_10071031 | 10065519 | C | T | stop_gained | HIGH | NA19066.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0071 | 1 | 404 | 0.0025 | 0 | c.613 others(3): Show |
p.Gln others(4): Show |
CLEC9A | ENSG00000197992.7 | transcript | ENST00000355819.6 | protein_coding | 9/9 | 1221/1733 | 613/726 | 205/241 | chr12 | TogoVar | |||
| CLGN_chr4_140383453_140432648 | 140389235 | G | A | stop_gained | HIGH | HG04204.hp1 HG04228.hp1 |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0211 a0006c0009t0001g0232 |
2 | 356 | 0.0056 | 0 | c.182 others(4): Show |
p.Arg others(4): Show |
CLGN | ENSG00000153132.13 | transcript | ENST00000325617.10 | protein_coding | 15/15 | 1943/2725 | 1822/1833 | 608/610 | chr4 | TogoVar | |||
| CLHC1_chr2_55167547_55237293 | 55175864 | G | A | stop_gained | HIGH | HG01074.hp2 | a0009 | a0009c0021 | a0009c0021t0004 | a0009c0021t0004g0151 | 1 | 402 | 0.0025 | 0 | c.168 others(4): Show |
p.Arg others(4): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 13/13 | 2013/5330 | 1687/1761 | 563/586 | chr2 | TogoVar | |||
| CLHC1_chr2_55167547_55237293 | 55209678 | A | T | stop_gained | HIGH | NA18973.hp1 | a0017 | a0017c0023 | a0017c0023t0003 | a0017c0023t0003g0057 | 1 | 402 | 0.0025 | 0 | c.653 others(3): Show |
p.Leu others(4): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 6/13 | 979/5330 | 653/1761 | 218/586 | chr2 | TogoVar | |||
| CLIP1_chr12_122266469_122427669 | 122361126 | T | A | stop_gained | HIGH | HG03490.hp2 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0096 | 1 | 232 | 0.0043 | 0 | c.838 others(3): Show |
p.Lys others(4): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 5/26 | 1093/5978 | 838/4317 | 280/1438 | chr12 | TogoVar | |||
| CLIP1_chr12_122266469_122427669 | 122361157 | A | C | stop_gained | HIGH | HG03490.hp2 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0096 | 1 | 232 | 0.0043 | 0 | c.807 others(3): Show |
p.Tyr others(4): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 5/26 | 1062/5978 | 807/4317 | 269/1438 | chr12 | TogoVar | |||
| CLMN_chr14_95176940_95324908 | 95204050 | G | T | stop_gained | HIGH | NA19085.hp1 | a0011 | a0011c0014 | a0011c0014t0002 | a0011c0014t0002g0162 | 1 | 274 | 0.0036 | 0 | c.129 others(4): Show |
p.Tyr others(4): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 9/13 | 1415/12749 | 1299/3009 | 433/1002 | chr14 | TogoVar | |||
| CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12224): Show |
stop_gained others(1): Show |
HIGH | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 393 | 0.0025 | 12231 | c.236 others(12238): Show |
p.Gln others(12242): 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(12222): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 394 | 0.0051 | 12229 | c.236 others(12236): 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(24439): Show |
frameshift_variant others(1): Show |
HIGH | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 393 | 0.0025 | 24446 | c.236 others(24453): 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(12215): Show |
stop_gained others(1): Show |
HIGH | HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 394 | 0.0051 | 12222 | c.236 others(12229): Show |
p.Gln others(12233): 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(12218): Show |
stop_gained others(1): Show |
HIGH | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 393 | 0.0025 | 12225 | c.236 others(12232): Show |
p.Gln others(12236): 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(24436): Show |
frameshift_variant others(1): Show |
HIGH | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 393 | 0.0025 | 24443 | c.236 others(24450): 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(12212): Show |
stop_gained others(1): Show |
HIGH | HG02083.hp1 NA18952.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0075 a0002c0004t0001g0094 |
2 | 394 | 0.0051 | 12219 | c.236 others(12226): Show |
p.Gln others(12230): 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(12212): Show |
stop_gained others(1): Show |
HIGH | NA18998.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0085 | 1 | 393 | 0.0025 | 12219 | c.236 others(12226): Show |
p.Gln others(12230): 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(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 | ||
| CLPS_chr6_35789982_35802323 | 35795226 | C | A | stop_gained | HIGH | HG03688.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0024 | 1 | 416 | 0.0024 | 0 | c.259 others(3): Show |
p.Glu others(3): Show |
CLPS | ENSG00000137392.10 | transcript | ENST00000259938.7 | protein_coding | 3/3 | 294/538 | 259/339 | 87/112 | chr6 | TogoVar | |||
| CLPS_chr6_35789982_35802323 | 35795260 | G | T | stop_gained | HIGH | HG03688.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0024 | 1 | 416 | 0.0024 | 0 | c.225 others(3): Show |
p.Tyr others(3): Show |
CLPS | ENSG00000137392.10 | transcript | ENST00000259938.7 | protein_coding | 3/3 | 260/538 | 225/339 | 75/112 | chr6 | TogoVar | |||
| CLPTM1_chr19_44950380_44998341 | 44990939 | T | A | stop_gained | HIGH | HG02572.hp1 | a0003 | a0003c0016 | a0003c0016t0008 | a0003c0016t0008g0313 | 1 | 372 | 0.0027 | 0 | c.141 others(4): Show |
p.Tyr others(4): Show |
CLPTM1 | ENSG00000104853.16 | transcript | ENST00000337392.10 | protein_coding | 11/14 | 1429/2470 | 1413/2010 | 471/669 | chr19 | TogoVar | |||
| CLPTM1_chr19_44950380_44998341 | 44992826 | C | T | stop_gained | HIGH | NA18986.hp1 | a0008 | a0008c0019 | a0008c0019t0001 | a0008c0019t0001g0224 | 1 | 372 | 0.0027 | 0 | c.193 others(4): Show |
p.Gln others(4): Show |
CLPTM1 | ENSG00000104853.16 | transcript | ENST00000337392.10 | protein_coding | 14/14 | 1955/2470 | 1939/2010 | 647/669 | chr19 | TogoVar | |||
| CLSTN1_chr1_9723926_9828965 | 9755182 | A | C | stop_gained | HIGH | HG00558.hp2 | a0005 | a0005c0011 | a0005c0011t0021 | a0005c0011t0021g0268 | 1 | 268 | 0.0037 | 0 | c.372 others(3): Show |
p.Tyr others(4): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 4/19 | 604/4760 | 372/2946 | 124/981 | chr1 | TogoVar | |||
| CLXN_chr8_48718391_48740268 | 48731402 | G | A | stop_gained | HIGH | NA19001.hp2 | a0002 | a0002c0004 | a0002c0004t0013 | a0002c0004t0013g0128 | 1 | 392 | 0.0026 | 0 | c.160 others(3): Show |
p.Arg others(3): Show |
CLXN | ENSG00000034239.11 | transcript | ENST00000262103.8 | protein_coding | 2/6 | 277/2104 | 160/636 | 54/211 | chr8 | TogoVar | |||
| CLYBL_chr13_99601690_99897570 | 99866380 | C | T | stop_gained | HIGH | HG01978.hp1 NA18972.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0022 a0005c0006t0001g0108 |
2 | 216 | 0.0093 | 0 | c.775 others(3): Show |
p.Arg others(4): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 6/9 | 781/1181 | 775/1023 | 259/340 | chr13 | TogoVar | |||
| CMA1_chr14_24500353_24513265 | 24507451 | G | T | stop_gained | HIGH | HG02015.hp2 NA18977.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0012 | 2 | 430 | 0.0047 | 0 | c.114 others(3): Show |
p.Tyr others(3): Show |
CMA1 | ENSG00000092009.10 | transcript | ENST00000250378.7 | protein_coding | 2/5 | 144/937 | 114/744 | 38/247 | chr14 | TogoVar | |||
| CMKLR2_chr2_206170316_206218371 | 206176542 | G | A | stop_gained | HIGH | HG00558.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0170 | 1 | 320 | 0.0031 | 0 | c.706 others(3): Show |
p.Arg others(4): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2/2 | 799/2025 | 706/1068 | 236/355 | chr2 | TogoVar | |||
| CMKLR2_chr2_206170316_206218371 | 206176803 | G | A | stop_gained | HIGH | HG02109.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0179 | 1 | 320 | 0.0031 | 0 | c.445 others(3): Show |
p.Arg others(4): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2/2 | 538/2025 | 445/1068 | 149/355 | 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 | ||
| CMYA5_chr5_79684836_79805222 | 79730963 | C | A | stop_gained | HIGH | HG04228.hp2 | a0073 | a0073c0053 | a0073c0053t0001 | a0073c0053t0001g0155 | 1 | 356 | 0.0028 | 0 | c.219 others(4): Show |
p.Ser others(4): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 2/13 | 2270/12888 | 2198/12210 | 733/4069 | chr5 | TogoVar | |||
| CMYA5_chr5_79684836_79805222 | 79733075 | C | A | stop_gained | HIGH | HG02683.hp1 | a0064 | a0064c0076 | a0064c0076t0001 | a0064c0076t0001g0105 | 1 | 356 | 0.0028 | 0 | c.431 others(4): Show |
p.Ser others(5): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 2/13 | 4382/12888 | 4310/12210 | 1437/4069 | chr5 | TogoVar | |||
| CNGB1_chr16_57877340_57976128 | 57962988 | C | A | stop_gained | HIGH | HG03139.hp2 | a0033 | a0033c0051 | a0033c0051t0001 | a0033c0051t0001g0339 | 1 | 358 | 0.0028 | 0 | c.367 others(3): Show |
p.Glu others(4): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 5/33 | 444/5657 | 367/3756 | 123/1251 | chr16 | TogoVar | |||
| CNKSR1_chr1_26172491_26194884 | 26188271 | C | T | stop_gained | HIGH | NA19030.hp1 | a0017 | a0017c0018 | a0017c0018t0001 | a0017c0018t0001g0021 | 1 | 370 | 0.0027 | 0 | c.149 others(4): Show |
p.Gln others(4): Show |
CNKSR1 | ENSG00000142675.18 | transcript | ENST00000361530.11 | protein_coding | 17/21 | 1549/2535 | 1492/2142 | 498/713 | chr1 | TogoVar |