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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HOXC9_chr12_53995161_54008337 | 54000179 | C | CCCCGTTA others(4): Show |
frameshift_variant others(1): Show |
HIGH | NA18987.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0002 | 1 | 340 | 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(378): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(158): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0012others(160): Show | a0001c0001t0002g0001 a0001c0001t0002g0040 a0001c0001t0002g0189 others(169): Show |
381 | 415 | 0.9181 | -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 | a0008 | a0008c0010 | a0008c0010t0104 | a0008c0010t0104g0073 | 1 | 430 | 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 | a0005 | a0005c0000 | a0005c0000t0009 | a0005c0000t0009g0000 | 1 | 417 | 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(27): Show |
a0002 | a0002c0002a0002c0005a0002c0013others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 others(19): Show |
30 | 392 | 0.0765 | 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 | a0006c0008t0003g0018 | 1 | 330 | 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 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0002a0002c0006t0002 | a0002c0002t0002g0000 a0002c0006t0002g0000 |
14 | 464 | 0.0302 | 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 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0000 | 1 | 448 | 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 | 478 | 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 | a0002c0005t0001g0119 a0002c0005t0001g0120 |
2 | 450 | 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 | a0011 | a0011c0026 | a0011c0026t0001 | a0011c0026t0001g0041 | 1 | 420 | 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 | 426 | 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 |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0001 | 4 | 424 | 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 |
a0002 | a0002c0003a0002c0004a0002c0008others(4): Show | a0002c0003t0001a0002c0004t0001a0002c0008t0001others(4): Show | a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0011 others(23): Show |
114 | 434 | 0.2627 | 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 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(2): Show | a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0063 others(9): Show |
26 | 466 | 0.0558 | 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 | a0004c0012t0021g0006 a0004c0012t0021g0007 a0004c0012t0021g0008 |
3 | 296 | 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 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0030 | 1 | 412 | 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 | 448 | 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 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0002 | 1 | 432 | 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 |
a0002 | a0002c0003 | a0002c0003t0009a0002c0003t0015 | a0002c0003t0009g0000 a0002c0003t0015g0000 |
3 | 406 | 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 |
a0007 | a0007c0008 | a0007c0008t0005 | a0007c0008t0005g0000 | 2 | 67 | 0.0299 | -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 |
a0005 | a0005c0006 | a0005c0006t0006 | a0005c0006t0006g0000 | 8 | 440 | 0.0182 | 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 | a0002 | a0002c0000 | a0002c0000t0009 | a0002c0000t0009g0000 | 1 | 470 | 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(232): Show |
a0001a0003a0005others(5): Show | a0001c0001a0003c0003a0003c0010others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0011g0000 others(11): Show |
235 | 414 | 0.5676 | 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 | a0008 | a0008c0017 | a0008c0017t0003 | a0008c0017t0003g0000 | 1 | 428 | 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 | a0008 | a0008c0017 | a0008c0017t0003 | a0008c0017t0003g0000 | 1 | 428 | 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 | a0002c0002t0001 | a0002c0002t0001g0000 | 43 | 458 | 0.0939 | 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 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 1 | 412 | 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 | a0003c0003t0003g0094 a0003c0003t0004g0090 a0003c0003t0004g0091 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(160): Show |
251 | 432 | 0.5810 | 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 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0041 | 1 | 436 | 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 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 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 |
a0007a0013 | a0007c0016a0007c0017a0007c0029others(3): Show | a0007c0016t0002a0007c0017t0002a0007c0029t0002others(3): Show | a0007c0016t0002g0001 a0007c0017t0002g0004 a0007c0017t0002g0005 others(4): Show |
8 | 268 | 0.0299 | 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 | a0002c0003t0003g0057 | 1 | 434 | 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 | a0004c0007t0015g0049 a0004c0007t0015g0050 |
2 | 426 | 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 | a0004c0004t0001g0132 a0004c0004t0002g0041 a0004c0004t0003g0105 |
3 | 372 | 0.0081 | 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 | 428 | 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 | |||
MEI1_chr22_41694503_41804454 | 41699535 | G | GGA | frameshift_variant others(1): Show |
HIGH | HG01884.hp1 HG02280.hp1 HG02559.hp1 others(22): Show |
a0001a0010 | a0001c0004a0001c0008a0001c0011others(2): Show | a0001c0004t0003a0001c0004t0006a0001c0008t0003others(3): Show | a0001c0004t0003g0041 a0001c0004t0003g0042 a0001c0004t0003g0043 others(22): Show |
25 | 258 | 0.0969 | 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 | a0008c0016t0011 | a0008c0016t0011g0318 | 1 | 486 | 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 | a0008c0012t0008g0052 | 1 | 432 | 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 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0002 | 1 | 388 | 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 | a0002c0002t0002g0010 a0002c0002t0002g0078 a0002c0002t0002g0079 others(1): Show |
8 | 394 | 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 | a0003c0005t0002g0246 | 1 | 394 | 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 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0153 a0003c0004t0001g0223 |
2 | 284 | 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 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0004 | 1 | 448 | 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 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0005 | 1 | 442 | 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 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0056 | 1 | 434 | 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 | a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0061 others(7): Show |
12 | 394 | 0.0305 | 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 | |||
NDUFAF4_chr6_96884315_96902891 | 96897801 | T | C | start_lost | HIGH | HG02976.hp2 | a0002 | a0002c0009 | a0002c0009t0005 | a0002c0009t0005g0069 | 1 | 440 | 0.0023 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
NDUFAF4 | ENSG00000123545.6 | transcript | ENST00000316149.8 | protein_coding | 1/3 | 91/2407 | 1/528 | 1/175 | chr6 | TogoVar | |||
NDUFV3_chr21_42888309_42918299 | 42893336 | G | T | start_lost | HIGH | HG01258.hp2 | a0005 | a0005c0011 | a0005c0011t0009 | a0005c0011t0009g0004 | 1 | 346 | 0.0029 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/4 | 28/5725 | 3/1422 | 1/473 | chr21 | TogoVar |