| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HIBCH_chr2_190198920_190324826 | 190319749 | A | G | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(101): Show |
a0003a0004 | a0003c0003a0003c0009a0004c0004 | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(8): Show | a0003c0003t0002g0194a0003c0003t0002g0198a0003c0003t0002g0202others(99): Show | 104 | 368 | 0.2826 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/14 | 78/2434 | 2/1161 | 1/386 | chr2 | TogoVar | ||
| HOXC9_chr12_53995161_54008337 | 54000179 | C | CCCCGTTA others(4): Show |
frameshift_variant others(1): Show |
HIGH | NA18987.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0002 | 1 | 342 | 0.0029 | 11 | c.-9_ others(15): Show |
p.Met others(3): Show |
HOXC9 | ENSG00000180806.5 | transcript | ENST00000303450.5 | protein_coding | 1/2 | 31/1474 | 3/783 | 1/260 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| HRNR_chr1_152207076_152229193 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(208): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(209): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0052others(217): Show | 382 | 418 | 0.9139 | -1 | c.1de others(2): Show |
p.Met others(3): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 2/3 | 77/9629 | 1/8553 | 1/2850 | chr1 | TogoVar | ||
| HS3ST3B1_chr17_14296081_14354404 | 14301521 | G | A | start_lost | HIGH | NA18941.hp2 | a0007 | a0007c0010 | a0007c0010t0104 | a0007c0010t0104g0067 | 1 | 432 | 0.0023 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/2 | 441/5369 | 3/1173 | 1/390 | chr17 | TogoVar | ||
| HSPA1A_chr6_31810543_31822942 | 31815750 | AACCGGCA others(7185): Show |
A | frameshift_variant others(2): Show |
HIGH | NA18943.hp2 | a0000 | a0000c0000 | a0000c0000t0009 | a0000c0000t0009g0000 | 1 | 419 | 0.0024 | -7192 | c.-6_ others(8): Show |
p.Met others(3): Show |
HSPA1A | ENSG00000204389.10 | transcript | ENST00000375651.7 | protein_coding | 1/1 | 209/2400 | 1/1926 | 1/641 | chr6 | TogoVar | ||
| HYAL4_chr7_123840169_123882481 | 123868274 | A | G | start_lost | HIGH | HG00544.hp2 HG01123.hp2 HG01192.hp1 others(28): Show |
a0002 | a0002c0002a0002c0005a0002c0013others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0015a0002c0002t0001g0016a0002c0002t0001g0017others(19): Show | 31 | 394 | 0.0787 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
HYAL4 | ENSG00000106302.10 | transcript | ENST00000223026.9 | protein_coding | 3/5 | 639/2410 | 1/1446 | 1/481 | chr7 | TogoVar | ||
| IDNK_chr9_83618143_83649123 | 83623172 | A | G | start_lost | HIGH | NA19240.hp2 | a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0029 | 1 | 332 | 0.0030 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
IDNK | ENSG00000148057.16 | transcript | ENST00000376419.5 | protein_coding | 1/5 | 30/936 | 1/564 | 1/187 | chr9 | TogoVar | ||
| IFNA13_chr9_21362372_21373057 | 21368009 | A | G | start_lost | HIGH | HG01884.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0002a0004c0006t0002 | a0002c0002t0002g0000a0004c0006t0002g0000 | 14 | 466 | 0.0300 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
IFNA13 | ENSG00000233816.4 | transcript | ENST00000610660.2 | protein_coding | 1/1 | 49/686 | 2/573 | 1/190 | chr9 | TogoVar | ||
| IFNA14_chr9_21234002_21245005 | 21239933 | C | G | start_lost | HIGH | HG03225.hp1 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0000 | 1 | 450 | 0.0022 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
IFNA14 | ENSG00000228083.3 | transcript | ENST00000380222.4 | protein_coding | 1/1 | 73/1004 | 3/570 | 1/189 | chr9 | TogoVar | ||
| IFNW1_chr9_21135632_21146832 | 21141570 | T | C | start_lost | HIGH | NA20129.hp2 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0000 | 1 | 480 | 0.0021 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
IFNW1 | ENSG00000177047.7 | transcript | ENST00000380229.4 | protein_coding | 1/1 | 263/1201 | 1/588 | 1/195 | chr9 | TogoVar | ||
| IGFL2_chr19_46143238_46166289 | 46148279 | A | G | start_lost | HIGH | HG02738.hp1 HG04115.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0143a0002c0005t0001g0144 | 2 | 452 | 0.0044 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
IGFL2 | ENSG00000204866.9 | transcript | ENST00000377693.5 | protein_coding | 1/4 | 42/602 | 1/360 | 1/119 | chr19 | TogoVar | ||
| INPP5J_chr22_31117966_31139697 | 31123017 | G | T | start_lost | HIGH | HG02056.hp1 | a0018 | a0018c0026 | a0018c0026t0001 | a0018c0026t0001g0041 | 1 | 422 | 0.0024 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
INPP5J | ENSG00000185133.14 | transcript | ENST00000331075.10 | protein_coding | 1/13 | 52/3348 | 3/3021 | 1/1006 | chr22 | TogoVar | ||
| INSL4_chr9_5226419_5240304 | 5231525 | T | C | start_lost | HIGH | HG02055.hp2 HG02109.hp2 HG02145.hp1 others(2): Show |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0003 | 5 | 428 | 0.0117 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
INSL4 | ENSG00000120211.4 | transcript | ENST00000239316.4 | protein_coding | 1/2 | 107/1952 | 2/420 | 1/139 | chr9 | TogoVar | ||
| IVL_chr1_152903546_152916886 | 152909799 | T | C | start_lost | HIGH | HG02723.hp1 HG03453.hp1 HG06807.hp1 others(1): Show |
a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0001 | 4 | 426 | 0.0094 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
IVL | ENSG00000163207.7 | transcript | ENST00000368764.4 | protein_coding | 2/2 | 65/2152 | 2/1758 | 1/585 | chr1 | TogoVar | ||
| JSRP1_chr19_2247252_2261417 | 2255312 | C | G | start_lost | HIGH | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(111): Show |
a0003a0004a0008others(1): Show | a0003c0003a0003c0010a0003c0011others(4): Show | a0003c0003t0001a0003c0010t0001a0003c0011t0001others(4): Show | a0003c0003t0001g0006a0003c0003t0001g0007a0003c0003t0001g0011others(23): Show | 114 | 436 | 0.2615 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 2/7 | 68/1138 | 3/996 | 1/331 | chr19 | TogoVar | ||
| KCTD14_chr11_78010715_78028276 | 78023248 | A | T | start_lost | HIGH | HG01891.hp2 HG02055.hp1 HG02257.hp1 others(23): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(2): Show | a0002c0003t0001g0037a0002c0003t0001g0039a0002c0003t0001g0063others(9): Show | 26 | 468 | 0.0556 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
KCTD14 | ENSG00000151364.17 | transcript | ENST00000353172.6 | protein_coding | 1/2 | 29/1673 | 2/768 | 1/255 | chr11 | TogoVar | ||
| KLHL6_chr3_183482551_183560706 | 183555652 | A | T | start_lost | HIGH | HG01069.hp1 HG01071.hp1 HG01175.hp2 |
a0004 | a0004c0012 | a0004c0012t0021 | a0004c0012t0021g0006a0004c0012t0021g0007a0004c0012t0021g0008 | 3 | 298 | 0.0101 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 1/7 | 55/6295 | 2/1866 | 1/621 | chr3 | TogoVar | ||
| KRT26_chr17_40761238_40777201 | 40772112 | A | T | start_lost | HIGH | HG04184.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0030 | 1 | 414 | 0.0024 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
KRT26 | ENSG00000186393.6 | transcript | ENST00000335552.5 | protein_coding | 1/8 | 90/1772 | 2/1407 | 1/468 | chr17 | TogoVar | ||
| KRT33A_chr17_41341092_41355828 | 41350492 | TGACCGCT others(5329): Show |
T | start_lost others(1): Show |
HIGH | HG02145.hp1 HG02258.hp1 HG02280.hp2 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0006 | 10 | 449 | 0.0223 | -5336 | c.-50 others(9): Show |
p.Met others(10): Show |
KRT33A | ENSG00000006059.4 | transcript | ENST00000007735.4 | protein_coding | 1/7 | 336/1303 | 1/1215 | 1/404 | chr17 | TogoVar | ||
| KRT6B_chr12_52441651_52457146 | 52452077 | A | G | start_lost | HIGH | NA18957.hp2 | a0017 | a0017c0013 | a0017c0013t0001 | a0017c0013t0001g0023 | 1 | 434 | 0.0023 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
KRT6B | ENSG00000185479.6 | transcript | ENST00000252252.4 | protein_coding | 1/9 | 70/2302 | 2/1695 | 1/564 | chr12 | TogoVar | ||
| KRTAP2-1_chr17_41041541_41052316 | 41046943 | AGCAGGGG others(5366): Show |
A | frameshift_variant others(1): Show |
HIGH | HG02622.hp2 HG02630.hp2 HG04204.hp2 |
a0000 | a0000c0006 | a0000c0006t0010a0000c0006t0016 | a0000c0006t0010g0000a0000c0006t0016g0000 | 3 | 407 | 0.0074 | -5373 | c.-50 others(9): Show |
p.Met others(3): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 1/1 | 373/776 | 1/387 | 1/128 | chr17 | TogoVar | ||
| KRTAP2-2_chr17_41049498_41060230 | 41054887 | CGCAGGGG others(5336): Show |
C | frameshift_variant others(1): Show |
HIGH | HG01256.hp1 HG01258.hp1 |
a0000 | a0000c0010 | a0000c0010t0006 | a0000c0010t0006g0000 | 2 | 411 | 0.0049 | -5343 | c.-50 others(9): Show |
p.Met others(3): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 1/372 | 1/123 | chr17 | TogoVar | ||
| KRTAP2-3_chr17_41054240_41065114 | 41060049 | A | AC | frameshift_variant others(1): Show |
HIGH | HG02145.hp2 HG02486.hp1 HG02572.hp2 others(5): Show |
a0000 | a0000c0006 | a0000c0006t0006 | a0000c0006t0006g0000 | 8 | 441 | 0.0181 | 1 | c.1_2 others(4): Show |
p.Met others(3): Show |
KRTAP2-3 | ENSG00000212724.3 | transcript | ENST00000391418.3 | protein_coding | 1/1 | 65/875 | 1/387 | 1/128 | chr17 | TogoVar | ||
| KRTAP3-3_chr17_40988430_40999164 | 40993776 | AGGCACTG others(5381): Show |
A | frameshift_variant others(1): Show |
HIGH | HG01943.hp1 | a0000 | a0000c0000 | a0000c0000t0010 | a0000c0000t0010g0000 | 1 | 471 | 0.0021 | -5388 | c.-50 others(9): Show |
p.Met others(3): Show |
KRTAP3-3 | ENSG00000212899.3 | transcript | ENST00000391586.3 | protein_coding | 1/1 | 388/735 | 1/297 | 1/98 | chr17 | TogoVar | ||
| KRTAP4-8_chr17_41091981_41103142 | 41098083 | A | AT | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(233): Show |
a0001a0003a0007others(5): Show | a0001c0001a0003c0003a0003c0010others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(12): Show | a0001c0001t0001g0000a0001c0001t0005g0000a0001c0001t0012g0000others(12): Show | 236 | 416 | 0.5673 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 59/1162 | 1/558 | 1/185 | chr17 | TogoVar | ||
| KRTAP5-1_chr11_1579342_1590283 | 1585248 | A | T | start_lost | HIGH | NA18949.hp2 | a0016 | a0016c0020 | a0016c0020t0003 | a0016c0020t0003g0000 | 1 | 429 | 0.0023 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 1/1 | 36/942 | 2/837 | 1/278 | chr11 | TogoVar | ||
| KRTAP5-1_chr11_1579342_1590283 | 1585249 | T | C | start_lost | HIGH | NA18949.hp2 | a0016 | a0016c0020 | a0016c0020t0003 | a0016c0020t0003g0000 | 1 | 429 | 0.0023 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 1/1 | 35/942 | 1/837 | 1/278 | chr11 | TogoVar | ||
| KRTAP9-1_chr17_41184887_41195639 | 41189887 | A | G | start_lost | HIGH | HG00280.hp1 HG00642.hp1 HG00735.hp1 others(40): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 43 | 460 | 0.0935 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
KRTAP9-1 | ENSG00000240542.6 | transcript | ENST00000398470.1 | protein_coding | 1/1 | 1/753 | 1/753 | 1/250 | chr17 | TogoVar | ||
| LCE1A_chr1_152822473_152833097 | 152827474 | T | A | start_lost | HIGH | NA19058.hp2 | a0000 | a0000c0003 | a0000c0003t0001 | a0000c0003t0001g0000 | 1 | 414 | 0.0024 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
LCE1A | ENSG00000186844.6 | transcript | ENST00000335123.4 | protein_coding | 1/1 | 2/625 | 2/333 | 1/110 | chr1 | TogoVar | ||
| LGALS12_chr11_63501084_63521772 | 63506460 | T | C | start_lost | HIGH | HG01496.hp2 HG01891.hp1 HG02258.hp1 others(4): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0003a0003c0003t0004a0003c0006t0003 | a0003c0003t0003g0095a0003c0003t0004g0091a0003c0003t0004g0092others(4): Show | 7 | 434 | 0.0161 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
LGALS12 | ENSG00000133317.16 | transcript | ENST00000394618.9 | protein_coding | 1/9 | 377/1699 | 2/945 | 1/314 | chr11 | TogoVar | ||
| LGALS9B_chr17_20444395_20472539 | 20467469 | A | ATC | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(248): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0025a0001c0026others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(161): Show | 251 | 433 | 0.5797 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
LGALS9B | ENSG00000170298.16 | transcript | ENST00000423676.8 | protein_coding | 1/11 | 70/1718 | 1/1071 | 1/356 | chr17 | TogoVar | ||
| LIM2_chr19_51374909_51392974 | 51387442 | A | G | start_lost | HIGH | NA19064.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0041 | 1 | 438 | 0.0023 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
LIM2 | ENSG00000105370.8 | transcript | ENST00000596399.2 | protein_coding | 2/5 | 64/876 | 2/522 | 1/173 | chr19 | TogoVar | ||
| LOC127898563_chr6_68630890_68640967 | 68635891 | T | G | start_lost | HIGH | NA19055.hp1 | a0000 | a0000c0002 | a0000c0002t0000 | a0000c0002t0000g0000 | 1 | 398 | 0.0025 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
LOC127898563 | ENSG00000288712.1 | transcript | ENST00000683102.1 | protein_coding | 1/1 | 2/78 | 2/78 | 1/25 | chr6 | TogoVar | ||
| LOXHD1_chr18_46472273_46662220 | 46657032 | A | T | start_lost | HIGH | HG00738.hp2 HG01516.hp1 HG01517.hp2 others(5): Show |
a0019a0020a0053others(3): Show | a0019c0016a0020c0017a0053c0030others(3): Show | a0019c0016t0002a0020c0017t0002a0053c0030t0002others(3): Show | a0019c0016t0002g0001a0020c0017t0002g0004a0020c0017t0002g0005others(4): Show | 8 | 270 | 0.0296 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
LOXHD1 | ENSG00000167210.17 | transcript | ENST00000642948.1 | protein_coding | 1/41 | 189/7208 | 2/6822 | 1/2273 | chr18 | TogoVar | ||
| LSM7_chr19_2316521_2333586 | 2328544 | TTCCGCCG others(33): Show |
T | start_lost others(2): Show |
HIGH | HG03492.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0061 | 1 | 436 | 0.0023 | -40 | c.-18 others(48): Show |
p.Met others(9): Show |
LSM7 | ENSG00000130332.15 | transcript | ENST00000252622.15 | protein_coding | 1/4 | 1/312 | 1/103 | chr19 | TogoVar | |||
| LYPD5_chr19_43790927_43807447 | 43802379 | A | C | start_lost | HIGH | HG02145.hp2 HG02615.hp2 |
a0004 | a0004c0007 | a0004c0007t0015 | a0004c0007t0015g0049a0004c0007t0015g0050 | 2 | 428 | 0.0047 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
LYPD5 | ENSG00000159871.15 | transcript | ENST00000377950.8 | protein_coding | 1/5 | 69/2487 | 2/756 | 1/251 | chr19 | TogoVar | ||
| LYPD8_chr1_248734415_248760759 | 248751080 | A | G | start_lost | HIGH | HG03139.hp1 HG03139.hp2 HG03486.hp2 |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0002a0004c0004t0003 | a0004c0004t0001g0152a0004c0004t0002g0044a0004c0004t0003g0096 | 3 | 374 | 0.0080 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 3/7 | 254/1162 | 2/714 | 1/237 | chr1 | TogoVar | ||
| MAD2L2_chr1_11669480_11686148 | 11680600 | A | C | start_lost | HIGH | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0127 | 1 | 430 | 0.0023 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
MAD2L2 | ENSG00000116670.16 | transcript | ENST00000376692.9 | protein_coding | 2/9 | 124/1053 | 2/636 | 1/211 | chr1 | TogoVar | ||
| MAGEA8_chrX_149876183_149890825 | 149884267 | GTCA | G | start_lost others(1): Show |
HIGH | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0013 | 1 | 287 | 0.0035 | -3 | c.-1_ others(7): Show |
p.Met others(4): Show |
MAGEA8 | ENSG00000156009.10 | transcript | ENST00000286482.6 | protein_coding | 3/3 | 228/1781 | 1/957 | 1/318 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MEI1_chr22_41694503_41804454 | 41699535 | G | GGA | frameshift_variant others(1): Show |
HIGH | HG01884.hp1 HG02280.hp1 HG02559.hp1 others(22): Show |
a0001a0009 | a0001c0004a0001c0008a0001c0011others(2): Show | a0001c0004t0003a0001c0004t0006a0001c0008t0003others(3): Show | a0001c0004t0003g0039a0001c0004t0003g0040a0001c0004t0003g0041others(22): Show | 25 | 260 | 0.0962 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
MEI1 | ENSG00000167077.13 | transcript | ENST00000401548.8 | protein_coding | 1/31 | 38/4016 | 2/3825 | 1/1274 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
| METTL21C_chr13_102680747_102700044 | 102694498 | T | C | start_lost | HIGH | HG02074.hp1 | a0008 | a0008c0016 | a0008c0016t0012 | a0008c0016t0012g0322 | 1 | 488 | 0.0021 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 547/1625 | 1/795 | 1/264 | chr13 | TogoVar | ||
| MKRN1_chr7_140448033_140484505 | 140479344 | T | C | start_lost | HIGH | NA18985.hp2 | a0008 | a0008c0012 | a0008c0012t0008 | a0008c0012t0008g0031 | 1 | 434 | 0.0023 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
MKRN1 | ENSG00000133606.11 | transcript | ENST00000255977.7 | protein_coding | 1/8 | 162/3094 | 1/1449 | 1/482 | chr7 | TogoVar | ||
| MLNR_chr13_49215338_49227377 | 49220340 | G | A | start_lost | HIGH | HG03942.hp2 | a0007 | a0007c0004 | a0007c0004t0000 | a0007c0004t0000g0002 | 1 | 390 | 0.0026 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
MLNR | ENSG00000102539.5 | transcript | ENST00000218721.1 | protein_coding | 1/2 | 3/1239 | 3/1239 | 1/412 | chr13 | TogoVar | ||
| MRPL21_chr11_68886278_68908832 | 68903809 | A | G | start_lost | HIGH | HG01934.hp2 HG02055.hp2 HG02809.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0012a0002c0002t0002g0097a0002c0002t0002g0098others(1): Show | 8 | 395 | 0.0203 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 1/7 | 24/693 | 2/618 | 1/205 | chr11 | TogoVar | ||
| MRPS23_chr17_57829781_57855044 | 57850008 | C | A | start_lost | HIGH | NA18991.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0260 | 1 | 396 | 0.0025 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
MRPS23 | ENSG00000181610.13 | transcript | ENST00000313608.13 | protein_coding | 1/5 | 37/5609 | 3/573 | 1/190 | chr17 | TogoVar | ||
| MSRA_chr8_10049292_10433891 | 10054519 | G | T | start_lost | HIGH | NA18945.hp2 NA18982.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0153a0002c0004t0001g0224 | 2 | 286 | 0.0070 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/6 | 228/1512 | 3/708 | 1/235 | chr8 | TogoVar | ||
| MT1H_chr16_56664814_56676129 | 56669886 | T | C | start_lost | HIGH | HG02145.hp2 | a0000 | a0000c0003 | a0000c0003t0001 | a0000c0003t0001g0004 | 1 | 450 | 0.0022 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
MT1H | ENSG00000205358.4 | transcript | ENST00000332374.5 | protein_coding | 1/3 | 73/397 | 2/186 | 1/61 | chr16 | TogoVar | ||
| MTFP1_chr22_30420768_30434054 | 30425881 | T | C | start_lost | HIGH | HG06807.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0005 | 1 | 444 | 0.0023 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
MTFP1 | ENSG00000242114.6 | transcript | ENST00000266263.10 | protein_coding | 1/4 | 114/1133 | 2/501 | 1/166 | chr22 | TogoVar | ||
| MYBPHL_chr1_109287365_109312011 | 109306990 | A | C | start_lost | HIGH | HG00741.hp1 | a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0056 | 1 | 436 | 0.0023 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
MYBPHL | ENSG00000221986.7 | transcript | ENST00000357155.2 | protein_coding | 1/9 | 22/1342 | 2/1065 | 1/354 | chr1 | TogoVar | ||
| MYL1_chr2_210285150_210320174 | 210315041 | A | AT | frameshift_variant others(1): Show |
HIGH | HG01109.hp2 HG01891.hp2 HG02055.hp1 others(9): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0001a0002c0005t0004 | a0001c0003t0001g0030a0001c0003t0001g0031a0001c0003t0001g0061others(7): Show | 12 | 398 | 0.0302 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
MYL1 | ENSG00000168530.16 | transcript | ENST00000352451.4 | protein_coding | 1/7 | 133/1049 | 1/585 | 1/194 | chr2 | TogoVar |