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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLEC18B_chr16_74403631_74426478 | 74412146 | G | T | splice_region_variant others(1): Show |
LOW | HG01975.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0088 | 1 | 287 | 0.0035 | 0 | c.877 others(5): Show |
CLEC18B | ENSG00000140839.13 | transcript | ENST00000682950.1 | protein_coding | 7/11 | chr16 | TogoVar | ||||||
CLEC18C_chr16_70168787_70191895 | 70177479 | A | T | missense_variant others(1): Show |
MODERATE | HG00621.hp1 HG02071.hp1 HG02523.hp2 others(7): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0003a0006c0006t0001g0023a0006c0006t0001g0041others(2): Show | 10 | 355 | 0.0282 | 0 | c.455 others(3): Show |
p.Gln others(6): Show |
CLEC18C | ENSG00000157335.21 | transcript | ENST00000541793.7 | protein_coding | 4/13 | 726/1987 | 455/1341 | 152/446 | chr16 | TogoVar | ||
CLEC18C_chr16_70168787_70191895 | 70181946 | A | G | missense_variant others(1): Show |
MODERATE | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(297): Show |
a0001a0002a0004others(16): Show | a0001c0001a0002c0002a0002c0011others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(176): Show | 300 | 355 | 0.8451 | 0 | c.553 others(3): Show |
p.Arg others(6): Show |
CLEC18C | ENSG00000157335.21 | transcript | ENST00000541793.7 | protein_coding | 5/13 | 824/1987 | 553/1341 | 185/446 | chr16 | TogoVar | ||
CLEC18C_chr16_70168787_70191895 | 70182643 | C | T | splice_region_variant others(1): Show |
LOW | HG02965.hp1 | a0004 | a0004c0029 | a0004c0029t0006 | a0004c0029t0006g0105 | 1 | 355 | 0.0028 | 0 | c.677 others(5): Show |
CLEC18C | ENSG00000157335.21 | transcript | ENST00000541793.7 | protein_coding | 6/12 | chr16 | TogoVar | ||||||
CLEC18C_chr16_70168787_70191895 | 70183864 | C | T | splice_region_variant others(1): Show |
LOW | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 355 | 0.0028 | 0 | c.984 others(5): Show |
CLEC18C | ENSG00000157335.21 | transcript | ENST00000541793.7 | protein_coding | 9/12 | chr16 | TogoVar | ||||||
CLEC18C_chr16_70168787_70191895 | 70184888 | C | T | splice_region_variant others(1): Show |
LOW | HG01358.hp1 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 2 | 355 | 0.0056 | 0 | c.111 others(6): Show |
CLEC18C | ENSG00000157335.21 | transcript | ENST00000541793.7 | protein_coding | 10/12 | chr16 | TogoVar | ||||||
CLEC1A_chr12_10064554_10103985 | 10075658 | T | G | splice_region_variant others(1): Show |
LOW | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 384 | 0.0026 | 0 | c.392 others(5): Show |
CLEC1A | ENSG00000150048.10 | transcript | ENST00000315330.8 | protein_coding | 3/5 | chr12 | TogoVar | ||||||
CLEC1A_chr12_10064554_10103985 | 10089230 | G | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009others(182): Show | 211 | 384 | 0.5495 | 0 | c.116 others(5): Show |
CLEC1A | ENSG00000150048.10 | transcript | ENST00000315330.8 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
CLEC1B_chr12_9988075_10004121 | 9995251 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(120): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0001 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(15): Show | 123 | 462 | 0.2662 | 0 | c.439 others(5): Show |
CLEC1B | ENSG00000165682.15 | transcript | ENST00000298527.11 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
CLEC20A_chr1_178474240_178501964 | 178494456 | C | T | missense_variant others(1): Show |
MODERATE | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(90): Show |
a0002a0003a0005others(5): Show | a0002c0002a0002c0010a0003c0003others(6): Show | a0002c0002t0001a0002c0002t0003a0002c0010t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0005a0002c0002t0001g0014others(47): Show | 93 | 314 | 0.2962 | 0 | c.395 others(3): Show |
p.Cys others(6): Show |
CLEC20A | ENSG00000188585.10 | transcript | ENST00000623247.3 | protein_coding | 2/8 | 420/1523 | 395/1203 | 132/400 | chr1 | TogoVar | ||
CLEC2A_chr12_9908227_9937370 | 9913680 | C | T | stop_gained others(1): Show |
HIGH | HG01109.hp1 HG03041.hp1 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0047 | 2 | 436 | 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 | ||
CLEC2A_chr12_9908227_9937370 | 9926347 | CAAATT | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00544.hp2 HG00642.hp2 others(19): Show |
a0002a0007 | a0002c0002a0002c0009a0007c0008 | a0002c0002t0001a0002c0009t0001a0007c0008t0001 | a0002c0002t0001g0006a0002c0002t0001g0034a0002c0002t0001g0072others(5): Show | 22 | 436 | 0.0505 | -5 | c.56- others(14): Show |
CLEC2A | ENSG00000188393.9 | transcript | ENST00000455827.2 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
CLEC2B_chr12_9847369_9874354 | 9862578 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(240): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0068a0001c0001t0002g0003a0001c0001t0002g0021others(136): Show | 243 | 454 | 0.5352 | 0 | c.-2- others(4): Show |
CLEC2B | ENSG00000110852.5 | transcript | ENST00000228438.3 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
CLEC2D_chr12_9664713_9704553 | 9681032 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(178): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0003c0003others(1): Show | a0001c0006t0003a0001c0006t0009a0001c0006t0018others(24): Show | a0001c0006t0003g0044a0001c0006t0003g0184a0001c0006t0009g0040others(125): Show | 181 | 388 | 0.4665 | 0 | c.171 others(3): Show |
p.Ser others(5): Show |
CLEC2D | ENSG00000069493.15 | transcript | ENST00000290855.11 | protein_coding | 2/5 | 193/5277 | 171/576 | 57/191 | chr12 | TogoVar | ||
CLEC3A_chr16_78017548_78037101 | 78030443 | A | G | splice_region_variant others(1): Show |
LOW | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0045 | 1 | 448 | 0.0022 | 0 | c.200 others(5): Show |
CLEC3A | ENSG00000166509.12 | transcript | ENST00000299642.10 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
CLEC3B_chr3_45021303_45041071 | 45036070 | G | A | splice_region_variant | LOW | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 376 | 0.0027 | 0 | c.*14 others(4): Show |
CLEC3B | ENSG00000163815.6 | transcript | ENST00000296130.5 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
CLEC4C_chr12_7724383_7752375 | 7729384 | G | A | splice_region_variant | LOW | HG01952.hp1 HG02723.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0121a0001c0001t0007g0122a0001c0001t0007g0123 | 3 | 448 | 0.0067 | 0 | c.*21 others(4): Show |
CLEC4C | ENSG00000198178.11 | transcript | ENST00000360345.8 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
CLEC4C_chr12_7724383_7752375 | 7729746 | A | C | splice_region_variant others(1): Show |
LOW | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 448 | 0.0022 | 0 | c.498 others(5): Show |
CLEC4C | ENSG00000198178.11 | transcript | ENST00000360345.8 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
CLEC4C_chr12_7724383_7752375 | 7741536 | GA | G | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00408.hp2 HG00597.hp2 others(91): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0011others(41): Show | 94 | 448 | 0.2098 | -1 | c.125 others(6): Show |
CLEC4C | ENSG00000198178.11 | transcript | ENST00000360345.8 | protein_coding | 2/5 | chr12 | TogoVar | ||||||
CLEC4E_chr12_8528305_8545905 | 8536203 | T | A | missense_variant others(1): Show |
MODERATE | HG00609.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0030 | 1 | 442 | 0.0023 | 0 | c.375 others(3): Show |
p.Glu others(6): Show |
CLEC4E | ENSG00000166523.8 | transcript | ENST00000299663.8 | protein_coding | 5/6 | 483/2101 | 375/660 | 125/219 | chr12 | TogoVar | ||
CLEC4F_chr2_70803643_70825599 | 70808636 | ACGAAGCT others(9): Show |
A | splice_region_variant | LOW | HG02015.hp1 | a0002 | a0002c0001 | a0002c0001t0009 | a0002c0001t0009g0125 | 1 | 414 | 0.0024 | -16 | c.*61 others(25): Show |
CLEC4F | ENSG00000152672.8 | transcript | ENST00000272367.7 | protein_coding | 7/7 | chr2 | TogoVar | ||||||
CLEC4G_chr19_7723957_7737110 | 7730172 | G | A | splice_region_variant others(1): Show |
LOW | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 432 | 0.0023 | 0 | c.479 others(5): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 6/8 | chr19 | TogoVar | ||||||
CLEC4G_chr19_7723957_7737110 | 7731769 | G | T | missense_variant others(1): Show |
MODERATE | HG00544.hp2 NA18991.hp1 |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0015 | 2 | 432 | 0.0046 | 0 | c.58C others(2): Show |
p.Pro others(5): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 2/9 | 66/1299 | 58/882 | 20/293 | chr19 | TogoVar | ||
CLEC4G_chr19_7723957_7737110 | 7731770 | C | T | splice_region_variant others(1): Show |
LOW | HG00544.hp2 NA18991.hp1 |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0015 | 2 | 432 | 0.0046 | 0 | c.57G others(2): Show |
p.Gly others(5): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 2/9 | 65/1299 | 57/882 | 19/293 | chr19 | TogoVar | ||
CLEC4M_chr19_7758243_7774605 | 7763315 | A | G | splice_region_variant others(1): Show |
LOW | HG02976.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0074 | 1 | 460 | 0.0022 | 0 | c.46+ others(4): Show |
CLEC4M | ENSG00000104938.18 | transcript | ENST00000327325.10 | protein_coding | 1/6 | chr19 | TogoVar | ||||||
CLEC4M_chr19_7758243_7774605 | 7766814 | G | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(328): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0001c0016others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0009others(63): Show | 331 | 460 | 0.7196 | 0 | c.936 others(5): Show |
CLEC4M | ENSG00000104938.18 | transcript | ENST00000327325.10 | protein_coding | 5/6 | chr19 | TogoVar | ||||||
CLEC5A_chr7_141922357_141951974 | 141931716 | G | A | splice_region_variant others(1): Show |
LOW | HG00642.hp2 HG02258.hp2 HG02970.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0011a0001c0001t0013a0003c0003t0013 | a0001c0001t0011g0022a0001c0001t0011g0181a0001c0001t0013g0180others(2): Show | 9 | 386 | 0.0233 | 0 | c.452 others(5): Show |
CLEC5A | ENSG00000258227.7 | transcript | ENST00000546910.6 | protein_coding | 6/6 | chr7 | TogoVar | ||||||
CLEC5A_chr7_141922357_141951974 | 141931829 | G | A | splice_region_variant others(1): Show |
LOW | HG00642.hp2 HG02258.hp2 HG02970.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0011a0001c0001t0013a0003c0003t0013 | a0001c0001t0011g0022a0001c0001t0011g0181a0001c0001t0013g0180others(2): Show | 9 | 386 | 0.0233 | 0 | c.346 others(5): Show |
CLEC5A | ENSG00000258227.7 | transcript | ENST00000546910.6 | protein_coding | 5/6 | chr7 | TogoVar | ||||||
CLEC5A_chr7_141922357_141951974 | 141943890 | C | A | splice_region_variant others(1): Show |
LOW | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 386 | 0.0026 | 0 | c.208 others(5): Show |
CLEC5A | ENSG00000258227.7 | transcript | ENST00000546910.6 | protein_coding | 4/6 | chr7 | TogoVar | ||||||
CLEC5A_chr7_141922357_141951974 | 141946312 | C | A | splice_region_variant | LOW | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0086 | 1 | 386 | 0.0026 | 0 | c.-20 others(3): Show |
CLEC5A | ENSG00000258227.7 | transcript | ENST00000546910.6 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
CLEC6A_chr12_8450962_8483330 | 8457994 | T | C | splice_region_variant others(1): Show |
LOW | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0044 | 1 | 334 | 0.0030 | 0 | c.121 others(5): Show |
CLEC6A | ENSG00000205846.4 | transcript | ENST00000382073.4 | protein_coding | 2/5 | chr12 | TogoVar | ||||||
CLEC6A_chr12_8450962_8483330 | 8459698 | G | C | missense_variant others(1): Show |
MODERATE | HG02895.hp1 HG03041.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0002 | 2 | 334 | 0.0060 | 0 | c.223 others(3): Show |
p.Ala others(5): Show |
CLEC6A | ENSG00000205846.4 | transcript | ENST00000382073.4 | protein_coding | 3/6 | 373/1646 | 223/630 | 75/209 | chr12 | TogoVar | ||
CLEC9A_chr12_10025682_10071031 | 10052625 | A | T | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02258.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036a0001c0001t0002g0136a0001c0001t0002g0139others(2): Show | 6 | 406 | 0.0148 | 0 | c.-58 others(5): Show |
CLEC9A | ENSG00000197992.7 | transcript | ENST00000355819.6 | protein_coding | 3/8 | chr12 | TogoVar | ||||||
CLEC9A_chr12_10025682_10071031 | 10063055 | C | G | missense_variant others(1): Show |
MODERATE | HG00597.hp2 HG00621.hp1 HG00639.hp2 others(35): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003a0002c0003t0001g0018a0002c0003t0001g0028others(20): Show | 38 | 406 | 0.0936 | 0 | c.320 others(3): Show |
p.Ala others(6): Show |
CLEC9A | ENSG00000197992.7 | transcript | ENST00000355819.6 | protein_coding | 7/9 | 928/1733 | 320/726 | 107/241 | chr12 | TogoVar | ||
CLEC9A_chr12_10025682_10071031 | 10064727 | C | CTT | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(391): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(259): Show | 394 | 406 | 0.9704 | 2 | c.472 others(13): Show |
CLEC9A | ENSG00000197992.7 | transcript | ENST00000355819.6 | protein_coding | 7/8 | chr12 | TogoVar | ||||||
CLGN_chr4_140383453_140432648 | 140392719 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 homoSapiens_chm13v2.hp1 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0003 | a0003c0003t0001g0208a0003c0003t0003g0206 | 2 | 358 | 0.0056 | 0 | c.136 others(6): Show |
CLGN | ENSG00000153132.13 | transcript | ENST00000325617.10 | protein_coding | 11/14 | chr4 | TogoVar | ||||||
CLHC1_chr2_55167547_55237293 | 55177789 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG01074.hp2 HG01106.hp1 others(61): Show |
a0003a0017 | a0003c0003a0017c0021 | a0003c0003t0004a0003c0003t0007a0003c0003t0017others(6): Show | a0003c0003t0004g0008a0003c0003t0004g0024a0003c0003t0004g0025others(60): Show | 64 | 404 | 0.1584 | 0 | c.138 others(6): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
CLHC1_chr2_55167547_55237293 | 55181750 | G | A | splice_region_variant others(1): Show |
LOW | HG03130.hp2 | a0002 | a0002c0013 | a0002c0013t0030 | a0002c0013t0030g0266 | 1 | 404 | 0.0025 | 0 | c.100 others(6): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 9/12 | chr2 | TogoVar | ||||||
CLIC1_chr6_31725599_31741530 | 31733568 | T | C | missense_variant others(1): Show |
MODERATE | HG01433.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0084 | 1 | 395 | 0.0025 | 0 | c.380 others(3): Show |
p.Asp others(6): Show |
CLIC1 | ENSG00000213719.8 | transcript | ENST00000375784.8 | protein_coding | 4/6 | 610/1199 | 380/726 | 127/241 | chr6 | TogoVar | ||
CLIC2_chrX_155271211_155339614 | 155280071 | TA | T | splice_region_variant others(1): Show |
LOW | NA19089.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0107 | 1 | 258 | 0.0039 | -1 | c.294 others(6): Show |
CLIC2 | ENSG00000155962.13 | transcript | ENST00000369449.7 | protein_coding | 3/5 | chrX | TogoVar | ||||||
CLIC4_chr1_24740447_24849321 | 24745632 | G | C | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0003 | 2 | 344 | 0.0058 | 0 | c.72+ others(4): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
CLIC5_chr6_45893456_46020860 | 45903262 | CAG | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(126): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(15): Show | a0001c0001t0002g0012a0001c0001t0002g0019a0001c0001t0002g0020others(126): Show | 129 | 340 | 0.3794 | -2 | c.589 others(13): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
CLINT1_chr5_157780747_157864145 | 157789360 | T | C | splice_region_variant others(1): Show |
LOW | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 340 | 0.0029 | 0 | c.153 others(6): Show |
CLINT1 | ENSG00000113282.14 | transcript | ENST00000411809.7 | protein_coding | 11/11 | chr5 | TogoVar | ||||||
CLINT1_chr5_157780747_157864145 | 157814297 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00597.hp1 HG01109.hp2 others(66): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0002g0040a0001c0001t0003g0017a0001c0001t0003g0018others(66): Show | 69 | 340 | 0.2029 | 0 | c.244 others(5): Show |
CLINT1 | ENSG00000113282.14 | transcript | ENST00000411809.7 | protein_coding | 3/11 | chr5 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122361181 | C | A | missense_variant others(1): Show |
MODERATE | HG03490.hp2 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0096 | 1 | 234 | 0.0043 | 0 | c.783 others(3): Show |
p.Arg others(6): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 5/26 | 1038/5978 | 783/4317 | 261/1438 | chr12 | TogoVar | ||
CLIP1_chr12_122266469_122427669 | 122361187 | G | T | splice_region_variant others(1): Show |
LOW | HG03490.hp2 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0096 | 1 | 234 | 0.0043 | 0 | c.783 others(5): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 4/25 | chr12 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122380563 | A | C | splice_region_variant others(1): Show |
LOW | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 234 | 0.0043 | 0 | c.-10 others(6): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74389267 | G | A | splice_region_variant others(1): Show |
LOW | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 278 | 0.0036 | 0 | c.272 others(6): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 13/16 | chr7 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74400372 | C | A | missense_variant others(1): Show |
MODERATE | HG00438.hp2 HG01243.hp2 HG01975.hp2 others(15): Show |
a0002 | a0002c0003a0002c0006a0002c0015 | a0002c0003t0002a0002c0003t0004a0002c0006t0002others(2): Show | a0002c0003t0002g0049a0002c0003t0002g0050a0002c0003t0002g0080others(15): Show | 18 | 278 | 0.0648 | 0 | c.288 others(4): Show |
p.Asp others(6): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 15/17 | 3278/5623 | 2883/3141 | 961/1046 | chr7 | TogoVar | ||
CLIP3_chr19_36009660_36037873 | 36026752 | G | A | splice_region_variant others(1): Show |
LOW | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 416 | 0.0024 | 0 | c.401 others(5): Show |
CLIP3 | ENSG00000105270.15 | transcript | ENST00000360535.9 | protein_coding | 4/13 | chr19 | TogoVar |