| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MRC2_chr17_62622670_62698597 | 62692335 | ATCGAGCG others(13): Show |
A | frameshift_variant | HIGH | HG02897.hp2 | a0016 | a0016c0029 | a0016c0029t0002 | a0016c0029t0002g0016 | 1 | 312 | 0.0032 | -20 | c.432 others(29): Show |
p.Ile others(6): Show |
MRC2 | ENSG00000011028.14 | transcript | ENST00000303375.10 | protein_coding | 30/30 | 4458/5719 | 4325/4440 | 1442/1479 | chr17 | TogoVar | ||
| MROH6_chr8_143561192_143577772 | 143567354 | C | CGGGGCCC others(3): Show |
frameshift_variant | HIGH | NA18959.hp1 | a0000 | a0000c0053 | a0000c0053t0001 | a0000c0053t0001g0164 | 1 | 437 | 0.0023 | 10 | c.203 others(19): Show |
p.Arg others(5): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 14/14 | 2102/3265 | 2044/2160 | 682/719 | chr8 | TogoVar | ||
| MROH6_chr8_143561192_143577772 | 143567371 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(34): Show |
a0000 | a0000c0004a0000c0007a0000c0020others(6): Show | a0000c0004t0003a0000c0004t0012a0000c0004t0026others(8): Show | a0000c0004t0003g0016a0000c0004t0003g0017a0000c0004t0003g0042others(19): Show | 37 | 437 | 0.0847 | 1 | c.202 others(5): Show |
p.Cys others(5): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 14/14 | 2085/3265 | 2027/2160 | 676/719 | chr8 | TogoVar | ||
| MROH6_chr8_143561192_143577772 | 143567860 | T | TGGGGGGG others(3): Show |
frameshift_variant | HIGH | HG02523.hp2 | a0000 | a0000c0032 | a0000c0032t0001 | a0000c0032t0001g0097 | 1 | 437 | 0.0023 | 10 | c.179 others(19): Show |
p.Asn others(5): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 12/14 | 1850/3265 | 1792/2160 | 598/719 | chr8 | TogoVar | ||
| MROH6_chr8_143561192_143577772 | 143569978 | A | AGGCTGCG others(9): Show |
frameshift_variant | HIGH | HG02809.hp1 HG03098.hp1 HG03130.hp2 |
a0009a0015a0019 | a0009c0041a0015c0038a0019c0047 | a0009c0041t0001a0015c0038t0001a0019c0047t0001 | a0009c0041t0001g0057a0015c0038t0001g0132a0019c0047t0001g0066 | 3 | 437 | 0.0069 | 16 | c.113 others(25): Show |
p.Leu others(5): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 7/14 | 1188/3265 | 1130/2160 | 377/719 | chr8 | TogoVar | ||
| MROH6_chr8_143561192_143577772 | 143571685 | C | CG | frameshift_variant | HIGH | HG01255.hp1 HG01255.hp2 HG02257.hp1 others(5): Show |
a0006a0009 | a0006c0010a0006c0025a0009c0016others(1): Show | a0006c0010t0001a0006c0010t0017a0006c0025t0020others(3): Show | a0006c0010t0001g0082a0006c0010t0001g0083a0006c0010t0001g0084others(5): Show | 8 | 437 | 0.0183 | 1 | c.583 others(4): Show |
p.Arg others(5): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 3/14 | 641/3265 | 583/2160 | 195/719 | chr8 | TogoVar | ||
| MRPL28_chr16_361969_375538 | 368347 | TGCTTCTC others(19): Show |
T | frameshift_variant | HIGH | HG03139.hp2 | a0000 | a0000c0014 | a0000c0014t0001 | a0000c0014t0001g0113 | 1 | 394 | 0.0025 | -26 | c.618 others(33): Show |
p.Thr others(5): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 5/6 | 690/1524 | 618/771 | 206/256 | chr16 | TogoVar | ||
| MRPL44_chr2_223952463_223972714 | 223959607 | TTAGATCT others(25): Show |
T | frameshift_variant | HIGH | HG01074.hp2 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0003 | 1 | 424 | 0.0024 | -32 | c.255 others(39): Show |
p.Asp others(4): Show |
MRPL44 | ENSG00000135900.4 | transcript | ENST00000258383.4 | protein_coding | 2/4 | 265/1689 | 255/999 | 85/332 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| MS4A14_chr11_60391459_60422756 | 60397879 | ATT | A | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(249): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(87): Show | 252 | 428 | 0.5888 | -2 | c.167 others(9): Show |
p.Ile others(4): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 2/5 | 287/2908 | 167/2040 | 56/679 | chr11 | TogoVar | ||
| MS4A4E_chr11_60195270_60248137 | 60201743 | C | CG | frameshift_variant | HIGH | HG00738.hp1 HG02055.hp1 HG03927.hp2 others(4): Show |
a0007a0008a0011others(1): Show | a0007c0009a0008c0016a0008c0017others(2): Show | a0007c0009t0003a0008c0016t0002a0008c0017t0012others(2): Show | a0007c0009t0003g0210a0007c0009t0003g0234a0007c0009t0003g0241others(4): Show | 7 | 410 | 0.0171 | 1 | c.795 others(4): Show |
p.Val others(5): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 9/9 | 991/2465 | 795/996 | 265/331 | chr11 | TogoVar | ||
| MSL1_chr17_40116971_40141917 | 40122983 | G | GGCAAGGC others(22): Show |
frameshift_variant | HIGH | NA19082.hp1 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0001 | 1 | 356 | 0.0028 | 29 | c.371 others(36): Show |
p.Cys others(5): Show |
MSL1 | ENSG00000188895.12 | transcript | ENST00000398532.9 | protein_coding | 1/9 | 1014/5035 | 372/1845 | 124/614 | chr17 | TogoVar | ||
| MSL3_chrX_11753237_11780772 | 11768655 | A | AG | frameshift_variant | HIGH | HG01168.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0094 | 1 | 297 | 0.0034 | 1 | c.125 others(5): Show |
p.Arg others(5): Show |
MSL3 | ENSG00000005302.19 | transcript | ENST00000312196.10 | protein_coding | 10/13 | 1285/2286 | 1258/1566 | 420/521 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MSLN_chr16_755734_773862 | 764648 | TGCGCTGT others(27): Show |
T | frameshift_variant | HIGH | HG01175.hp1 | a0027 | a0027c0026 | a0027c0026t0001 | a0027c0026t0001g0169 | 1 | 388 | 0.0026 | -34 | c.304 others(41): Show |
p.Cys others(5): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 7/18 | 503/2197 | 304/1869 | 102/622 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| MSLN_chr16_755734_773862 | 765214 | A | AC | frameshift_variant | HIGH | HG01109.hp2 HG01123.hp2 HG01175.hp2 others(5): Show |
a0009a0018a0028 | a0009c0011a0009c0031a0018c0027others(1): Show | a0009c0011t0001a0009c0031t0002a0018c0027t0003others(1): Show | a0009c0011t0001g0005a0009c0011t0001g0101a0009c0011t0001g0184others(5): Show | 8 | 388 | 0.0206 | 1 | c.619 others(4): Show |
p.Arg others(5): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 9/18 | 819/2197 | 620/1869 | 207/622 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| MSLN_chr16_755734_773862 | 768732 | GAGGGCCC others(19): Show |
G | frameshift_variant others(1): Show |
HIGH | HG01192.hp2 | a0000 | a0000c0039 | a0000c0039t0008 | a0000c0039t0008g0146 | 1 | 388 | 0.0026 | -26 | c.186 others(34): Show |
p.Ter others(5): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 18/18 | 2068/2197 | 1869/1869 | 623/622 | chr16 | TogoVar | ||
| MSN_chrX_65662654_65746931 | 65735399 | C | CG | frameshift_variant | HIGH | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0155 | 1 | 170 | 0.0059 | 1 | c.931 others(4): Show |
p.Glu others(5): Show |
MSN | ENSG00000147065.18 | transcript | ENST00000360270.7 | protein_coding | 8/13 | 1120/3960 | 932/1734 | 311/577 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MSN_chrX_65662654_65746931 | 65736803 | TG | T | frameshift_variant | HIGH | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0155 | 1 | 170 | 0.0059 | -1 | c.970 others(4): Show |
p.Glu others(5): Show |
MSN | ENSG00000147065.18 | transcript | ENST00000360270.7 | protein_coding | 9/13 | 1158/3960 | 970/1734 | 324/577 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MSN_chrX_65662654_65746931 | 65736856 | GA | G | frameshift_variant | HIGH | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0155 | 1 | 170 | 0.0059 | -1 | c.102 others(5): Show |
p.Glu others(5): Show |
MSN | ENSG00000147065.18 | transcript | ENST00000360270.7 | protein_coding | 9/13 | 1211/3960 | 1023/1734 | 341/577 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MSN_chrX_65662654_65746931 | 65736885 | G | GC | frameshift_variant | HIGH | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0155 | 1 | 170 | 0.0059 | 1 | c.105 others(5): Show |
p.Leu others(5): Show |
MSN | ENSG00000147065.18 | transcript | ENST00000360270.7 | protein_coding | 9/13 | 1240/3960 | 1052/1734 | 351/577 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MTA1_chr14_105414827_105475729 | 105466438 | G | GC | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00639.hp1 others(21): Show |
a0004a0005 | a0004c0003a0005c0005 | a0004c0003t0001a0005c0005t0001 | a0004c0003t0001g0033a0004c0003t0001g0035a0004c0003t0001g0072others(21): Show | 24 | 304 | 0.0790 | 1 | c.164 others(5): Show |
p.Lys others(5): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 17/21 | 1854/2871 | 1645/2148 | 549/715 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
| MTCH1_chr6_36963141_36991196 | 36986143 | AG | A | frameshift_variant | HIGH | HG00597.hp1 HG04115.hp1 NA18747.hp2 others(13): Show |
a0002 | a0002c0004a0002c0008 | a0002c0004t0001a0002c0008t0001 | a0002c0004t0001g0008a0002c0004t0001g0039a0002c0004t0001g0180others(3): Show | 16 | 414 | 0.0387 | -1 | c.30d others(3): Show |
p.Trp others(4): Show |
MTCH1 | ENSG00000137409.21 | transcript | ENST00000373627.10 | protein_coding | 1/12 | 53/1955 | 30/1170 | 10/389 | chr6 | TogoVar | ||
| MTFR2_chr6_136226034_136255311 | 136239708 | A | AGGAGGAG others(118): Show |
frameshift_variant others(1): Show |
HIGH | NA18980.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0218 | 1 | 418 | 0.0024 | 125 | c.515 others(135): Show |
p.Pro others(5): Show |
MTFR2 | ENSG00000146410.12 | transcript | ENST00000420702.6 | protein_coding | 6/8 | 1016/1789 | 626/1158 | 209/385 | chr6 | TogoVar | ||
| MTIF2_chr2_55231595_55274231 | 55254128 | T | TC | frameshift_variant | HIGH | HG01978.hp1 HG02055.hp2 HG02486.hp1 others(3): Show |
a0004a0006 | a0004c0006a0006c0008 | a0004c0006t0001a0006c0008t0001 | a0004c0006t0001g0147a0004c0006t0001g0163a0004c0006t0001g0201others(3): Show | 6 | 384 | 0.0156 | 1 | c.576 others(4): Show |
p.Lys others(5): Show |
MTIF2 | ENSG00000085760.15 | transcript | ENST00000263629.9 | protein_coding | 7/16 | 875/2536 | 576/2184 | 192/727 | chr2 | TogoVar | ||
| MTM1_chrX_150563621_150678143 | 150592671 | TA | T | frameshift_variant | HIGH | HG02970.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0170 | 1 | 277 | 0.0036 | -1 | c.59d others(3): Show |
p.Lys others(4): Show |
MTM1 | ENSG00000171100.16 | transcript | ENST00000370396.7 | protein_coding | 2/15 | 111/3412 | 59/1812 | 20/603 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MTM1_chrX_150563621_150678143 | 150663514 | GA | G | frameshift_variant | HIGH | NA19006.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 | 1 | 277 | 0.0036 | -1 | c.155 others(5): Show |
p.Ile others(5): Show |
MTM1 | ENSG00000171100.16 | transcript | ENST00000370396.7 | protein_coding | 14/15 | 1604/3412 | 1552/1812 | 518/603 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MTMR1_chrX_150688396_150770108 | 150699238 | G | GC | frameshift_variant | HIGH | NA18993.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0040 | 1 | 270 | 0.0037 | 1 | c.191 others(4): Show |
p.Thr others(4): Show |
MTMR1 | ENSG00000063601.17 | transcript | ENST00000445323.7 | protein_coding | 2/16 | 327/4536 | 192/2022 | 64/673 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MTMR1_chrX_150688396_150770108 | 150762596 | T | TG | frameshift_variant | HIGH | NA18991.hp2 | a0000 | a0000c0008 | a0000c0008t0016 | a0000c0008t0016g0112 | 1 | 270 | 0.0037 | 1 | c.189 others(5): Show |
p.Ala others(5): Show |
MTMR1 | ENSG00000063601.17 | transcript | ENST00000445323.7 | protein_coding | 16/16 | 2027/4536 | 1892/2022 | 631/673 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MTMR1_chrX_150688396_150770108 | 150762625 | G | GT | frameshift_variant | HIGH | NA18991.hp2 | a0000 | a0000c0008 | a0000c0008t0016 | a0000c0008t0016g0112 | 1 | 270 | 0.0037 | 1 | c.191 others(5): Show |
p.Glu others(5): Show |
MTMR1 | ENSG00000063601.17 | transcript | ENST00000445323.7 | protein_coding | 16/16 | 2055/4536 | 1920/2022 | 640/673 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MTMR8_chrX_64263081_64400452 | 64337376 | CT | C | frameshift_variant | HIGH | NA18967.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0034 | 1 | 190 | 0.0053 | -1 | c.992 others(4): Show |
p.Lys others(5): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 9/14 | 1081/2660 | 992/2115 | 331/704 | chrX | TogoVar | ||
| MTSS2_chr16_70656204_70691053 | 70664054 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG01358.hp2 HG01928.hp2 others(4): Show |
a0003a0009 | a0003c0005a0009c0015 | a0003c0005t0001a0003c0005t0002a0003c0005t0020others(3): Show | a0003c0005t0001g0166a0003c0005t0001g0169a0003c0005t0002g0295others(4): Show | 7 | 398 | 0.0176 | 1 | c.186 others(5): Show |
p.Ala others(5): Show |
MTSS2 | ENSG00000132613.16 | transcript | ENST00000338779.11 | protein_coding | 15/15 | 2128/4979 | 1866/2244 | 622/747 | chr16 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 100995340 | G | GGCAGTAC others(2050): Show |
frameshift_variant others(1): Show |
HIGH | NA19081.hp1 | a0174 | a0174c0268 | a0174c0268t0001 | a0174c0268t0001g0207 | 1 | 342 | 0.0029 | 2057 | c.485 others(2066): Show |
p.Ser others(6): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 4910/16366 | 4852/16008 | 1618/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1821): Show |
frameshift_variant others(1): Show |
HIGH | HG02071.hp2 | a0248 | a0248c0121 | a0248c0121t0001 | a0248c0121t0001g0278 | 1 | 342 | 0.0029 | 1828 | c.726 others(1837): Show |
p.Pro others(6): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 101004330 | G | GCCTGCCC others(3240): Show |
frameshift_variant others(1): Show |
HIGH | NA18989.hp2 | a0061 | a0061c0255 | a0061c0255t0001 | a0061c0255t0001g0045 | 1 | 342 | 0.0029 | 3247 | c.137 others(3258): Show |
p.Arg others(6): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13833/16366 | 13775/16008 | 4592/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 101004357 | C | CGTTGAAG others(19486): Show |
frameshift_variant others(1): Show |
HIGH | HG01361.hp2 | a0192 | a0192c0051 | a0192c0051t0001 | a0192c0051t0001g0262 | 1 | 342 | 0.0029 | 19493 | c.138 others(19504): Show |
p.Ala others(6): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC20_chr3_195715978_195738551 | 195725523 | CAGAGAGC others(166): Show |
C | frameshift_variant | HIGH | HG02922.hp1 | a0036 | a0036c0054 | a0036c0054t0006 | a0036c0054t0006g0086 | 1 | 185 | 0.0054 | -173 | c.925 others(8): Show |
p.Ser others(5): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 955/2493 | 925/2130 | 309/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| MUC20_chr3_195715978_195738551 | 195726146 | GC | G | frameshift_variant | HIGH | HG01070.hp2 HG01516.hp2 HG01978.hp1 others(2): Show |
a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0042a0007c0009t0002g0046a0007c0009t0002g0050others(2): Show | 5 | 185 | 0.0270 | -1 | c.154 others(5): Show |
p.Thr others(5): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 1575/2493 | 1545/2130 | 515/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| MUC22_chr6_31005474_31040402 | 31027337 | AC | A | frameshift_variant | HIGH | HG00597.hp2 HG00609.hp2 HG00673.hp1 others(38): Show |
a0006a0011a0022others(8): Show | a0006c0005a0006c0024a0006c0093others(12): Show | a0006c0005t0001a0006c0024t0001a0006c0093t0001others(12): Show | a0006c0005t0001g0001a0006c0005t0001g0124a0006c0005t0001g0213others(17): Show | 41 | 461 | 0.0889 | -1 | c.190 others(5): Show |
p.Thr others(5): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 2141/6019 | 1908/5322 | 636/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| MUC22_chr6_31005474_31040402 | 31034887 | T | TGGTGTGG others(12): Show |
frameshift_variant | HIGH | HG02738.hp2 | a0000 | a0000c0116 | a0000c0116t0001 | a0000c0116t0001g0076 | 1 | 461 | 0.0022 | 19 | c.527 others(28): Show |
p.Tyr others(6): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 4/4 | 5507/6019 | 5274/5322 | 1758/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| MUC4_chr3_195741771_195816929 | 195749032 | ATCTGAAG others(28): Show |
A | frameshift_variant others(3): Show |
HIGH | HG01192.hp2 | a0058 | a0058c0200 | a0058c0200t0015 | a0058c0200t0015g0234 | 1 | 249 | 0.0040 | -35 | c.158 others(48): Show |
p.Asn others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 24/25 | 16015/16756 | 15872/16239 | 5291/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195779022 | G | GGACACTG others(234): Show |
frameshift_variant | HIGH | NA18977.hp2 | a0185 | a0185c0029 | a0185c0029t0001 | a0185c0029t0001g0155 | 1 | 249 | 0.0040 | 241 | c.125 others(252): Show |
p.Asp others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12669/16756 | 12557/16239 | 4186/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195779292 | A | AGCGGTGG others(42): Show |
frameshift_variant | HIGH | HG03579.hp1 | a0104 | a0104c0030 | a0104c0030t0005 | a0104c0030t0005g0232 | 1 | 249 | 0.0040 | 49 | c.122 others(60): Show |
p.Leu others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12399/16756 | 12287/16239 | 4096/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195779931 | T | TGTGGATG others(42): Show |
frameshift_variant | HIGH | NA18985.hp1 | a0135 | a0135c0103 | a0135c0103t0001 | a0135c0103t0001g0111 | 1 | 249 | 0.0040 | 49 | c.116 others(60): Show |
p.Asp others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11760/16756 | 11648/16239 | 3883/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195780335 | TGGTGACA others(136): Show |
T | frameshift_variant | HIGH | HG03098.hp2 | a0069 | a0069c0172 | a0069c0172t0005 | a0069c0172t0005g0230 | 1 | 249 | 0.0040 | -143 | c.111 others(11): Show |
p.Ile others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11356/16756 | 11102/16239 | 3701/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195780635 | G | GC | frameshift_variant | HIGH | HG01978.hp2 HG02135.hp1 NA18974.hp2 others(2): Show |
a0021a0130a0171others(1): Show | a0021c0039a0021c0097a0130c0125others(2): Show | a0021c0039t0001a0021c0097t0001a0130c0125t0001others(2): Show | a0021c0039t0001g0124a0021c0097t0001g0118a0130c0125t0001g0065others(2): Show | 5 | 249 | 0.0201 | 1 | c.109 others(12): Show |
p.Leu others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11056/16756 | 10944/16239 | 3648/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195781074 | G | GGCGTGAC others(66): Show |
frameshift_variant | HIGH | NA18988.hp1 | a0160 | a0160c0064 | a0160c0064t0001 | a0160c0064t0001g0151 | 1 | 249 | 0.0040 | 73 | c.105 others(84): Show |
p.Thr others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10617/16756 | 10505/16239 | 3502/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195782461 | GGGGTGGC others(40): Show |
G | frameshift_variant | HIGH | NA18955.hp1 | a0064 | a0064c0195 | a0064c0195t0003 | a0064c0195t0003g0207 | 1 | 249 | 0.0040 | -47 | c.907 others(56): Show |
p.Leu others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 9230/16756 | 9072/16239 | 3024/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195782906 | C | CTGTAGAT others(42): Show |
frameshift_variant | HIGH | NA18988.hp1 | a0160 | a0160c0064 | a0160c0064t0001 | a0160c0064t0001g0151 | 1 | 249 | 0.0040 | 49 | c.867 others(58): Show |
p.Gly others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8785/16756 | 8673/16239 | 2891/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195783262 | T | TCGGTGAC others(42): Show |
frameshift_variant | HIGH | HG03225.hp1 | a0051 | a0051c0139 | a0051c0139t0001 | a0051c0139t0001g0068 | 1 | 249 | 0.0040 | 49 | c.831 others(58): Show |
p.Asn others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8429/16756 | 8317/16239 | 2773/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195783352 | G | GA | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00738.hp2 others(3): Show |
a0026a0175a0179others(2): Show | a0026c0009a0175c0031a0179c0032others(2): Show | a0026c0009t0002a0175c0031t0001a0179c0032t0002others(2): Show | a0026c0009t0002g0112a0026c0009t0002g0192a0175c0031t0001g0190others(3): Show | 6 | 249 | 0.0241 | 1 | c.822 others(5): Show |
p.Ser others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8339/16756 | 8227/16239 | 2743/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195783354 | A | AAGGCTGG others(186): Show |
frameshift_variant others(1): Show |
HIGH | HG00621.hp2 HG00639.hp1 HG00741.hp2 others(13): Show |
a0007a0015a0016others(9): Show | a0007c0007a0015c0023a0016c0024others(9): Show | a0007c0007t0003a0015c0023t0003a0016c0024t0003others(9): Show | a0007c0007t0003g0152a0007c0007t0003g0154a0007c0007t0003g0209others(13): Show | 16 | 249 | 0.0643 | 193 | c.822 others(202): Show |
p.Ser others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8337/16756 | 8225/16239 | 2742/5412 | chr3 | TogoVar |