| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MIB2_chr1_1610500_1635605 | 1628107 | ACATCGAT others(47): Show |
A | conservative_inframe_deletion | MODERATE | HG01255.hp2 | a0011 | a0011c0023 | a0011c0023t0002 | a0011c0023t0002g0121 | 1 | 412 | 0.0024 | -54 | c.177 others(63): Show |
p.Ile others(13): Show |
MIB2 | ENSG00000197530.13 | transcript | ENST00000355826.10 | protein_coding | 14/20 | 2034/3206 | 1771/2868 | 591/955 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| MICALL2_chr7_1429359_1464470 | 1442276 | AGGATTCC others(14): Show |
A | conservative_inframe_deletion | MODERATE | HG02083.hp2 | a0020 | a0020c0062 | a0020c0062t0001 | a0020c0062t0001g0166 | 1 | 280 | 0.0036 | -21 | c.160 others(30): Show |
p.Arg others(13): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 7/17 | 1770/3096 | 1606/2715 | 536/904 | chr7 | TogoVar | ||
| MMP24OS_chr20_35271352_35283122 | 35277779 | CGGGCTG | C | conservative_inframe_deletion | MODERATE | HG02486.hp1 HG02630.hp2 HG02809.hp2 others(1): Show |
a0005a0009 | a0005c0006a0009c0013 | a0005c0006t0005a0005c0006t0011a0009c0013t0002 | a0005c0006t0005g0032a0005c0006t0011g0015a0009c0013t0002g0031 | 4 | 374 | 0.0107 | -6 | c.145 others(13): Show |
p.Gln others(11): Show |
MMP24OS | ENSG00000126005.17 | transcript | ENST00000456790.2 | protein_coding | 2/2 | 267/1695 | 145/216 | 49/71 | chr20 | TogoVar | ||
| MMP24OS_chr20_35271352_35283122 | 35277779 | CGGGCTGG others(5): Show |
C | conservative_inframe_deletion | MODERATE | HG03831.hp2 | a0008 | a0008c0015 | a0008c0015t0003 | a0008c0015t0003g0034 | 1 | 374 | 0.0027 | -12 | c.139 others(19): Show |
p.Gln others(11): Show |
MMP24OS | ENSG00000126005.17 | transcript | ENST00000456790.2 | protein_coding | 2/2 | 267/1695 | 139/216 | 47/71 | chr20 | TogoVar | ||
| MMP24_chr20_35221690_35281998 | 35226773 | GGCCGCCG others(2): Show |
G | conservative_inframe_deletion | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(107): Show |
a0002a0004a0005 | a0002c0002a0002c0007a0002c0012others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(9): Show | a0002c0002t0001g0010a0002c0002t0001g0011a0002c0002t0001g0013others(105): Show | 110 | 320 | 0.3438 | -9 | c.52_ others(14): Show |
p.Pro others(11): Show |
MMP24 | ENSG00000125966.10 | transcript | ENST00000246186.8 | protein_coding | 1/9 | 101/4376 | 52/1938 | 18/645 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
| MMP25_chr16_3041561_3065726 | 3050067 | GGTGGCGG others(8): Show |
G | conservative_inframe_deletion | MODERATE | NA18972.hp1 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0101 | 1 | 438 | 0.0023 | -15 | c.292 others(22): Show |
p.Val others(12): Show |
MMP25 | ENSG00000008516.18 | transcript | ENST00000336577.9 | protein_coding | 3/10 | 649/3674 | 292/1689 | 98/562 | chr16 | TogoVar | ||
| MRPL23_chr11_1942332_1961600 | 1956376 | AGCGACCC others(56): Show |
A | stop_lost others(1): Show |
HIGH | NA19079.hp2 | a0000 | a0000c0006 | a0000c0006t0006 | a0000c0006t0006g0019 | 1 | 401 | 0.0025 | -63 | c.422 others(70): Show |
p.Asp others(19): Show |
MRPL23 | ENSG00000214026.11 | transcript | ENST00000397298.8 | protein_coding | 5/5 | 453/673 | 422/462 | 141/153 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MRPL28_chr16_361969_375538 | 369912 | AGGCCGCC others(23): Show |
A | splice_donor_variant others(3): Show |
HIGH | NA18906.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0080 | 1 | 394 | 0.0025 | -30 | c.277 others(40): Show |
p.Asn others(11): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 2/6 | 277/771 | 93/256 | chr16 | TogoVar | |||
| MSH3_chr5_80649652_80881815 | 80654889 | TGCAGCGG others(2): Show |
T | conservative_inframe_deletion | MODERATE | HG02738.hp1 NA18978.hp2 NA19056.hp1 others(2): Show |
a0018a0019a0035 | a0018c0017a0019c0018a0035c0029 | a0018c0017t0007a0019c0018t0001a0035c0029t0017 | a0018c0017t0007g0227a0018c0017t0007g0228a0019c0018t0001g0127others(2): Show | 5 | 362 | 0.0138 | -9 | c.178 others(16): Show |
p.Ala others(11): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 1/24 | 254/4443 | 178/3414 | 60/1137 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| MTERF4_chr2_241090571_241107287 | 241096075 | CATT | C | conservative_inframe_deletion | MODERATE | HG02451.hp2 HG03453.hp2 HG03471.hp1 others(2): Show |
a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0014a0006c0007t0002g0021 | 5 | 398 | 0.0126 | -3 | c.106 others(12): Show |
p.Asn others(6): Show |
MTERF4 | ENSG00000122085.17 | transcript | ENST00000391980.7 | protein_coding | 4/4 | 1082/1587 | 1066/1146 | 356/381 | chr2 | TogoVar | ||
| MTRES1_chr6_107023199_107056586 | 107040045 | AAAGTCTC others(14): Show |
A | conservative_inframe_deletion | MODERATE | NA18965.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0145 | 1 | 406 | 0.0025 | -21 | c.286 others(28): Show |
p.Lys others(12): Show |
MTRES1 | ENSG00000130349.10 | transcript | ENST00000311381.8 | protein_coding | 2/4 | 371/1158 | 286/723 | 96/240 | chr6 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 101003685 | ATTGGGCC others(572): Show |
A | conservative_inframe_deletion | MODERATE | NA18941.hp2 | a0129 | a0129c0209 | a0129c0209t0001 | a0129c0209t0001g0127 | 1 | 342 | 0.0029 | -579 | c.132 others(11): Show |
p.Thr others(15): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13289/16366 | 13231/16008 | 4411/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC17_chr7_101015081_101063859 | 101035033 | TTACCAGC others(2996): Show |
T | conservative_inframe_deletion | MODERATE | HG02071.hp2 | a0040 | a0040c0043 | a0040c0043t0003 | a0040c0043t0003g0008 | 1 | 366 | 0.0027 | -3003 | c.364 others(9): Show |
p.Gly others(15): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 3698/14352 | 3643/13482 | 1215/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC17_chr7_101015081_101063859 | 101038140 | GCAACTCC others(878): Show |
G | conservative_inframe_deletion | MODERATE | HG02071.hp2 | a0040 | a0040c0043 | a0040c0043t0003 | a0040c0043t0003g0008 | 1 | 366 | 0.0027 | -885 | c.673 others(9): Show |
p.Thr others(15): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 6794/14352 | 6739/13482 | 2247/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC17_chr7_101015081_101063859 | 101041440 | CTAACAAA others(524): Show |
C | conservative_inframe_deletion | MODERATE | NA18982.hp1 | a0039 | a0039c0045 | a0039c0045t0003 | a0039c0045t0003g0137 | 1 | 366 | 0.0027 | -531 | c.100 others(11): Show |
p.Ser others(15): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 10091/14352 | 10036/13482 | 3346/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC20_chr3_195715978_195738551 | 195725120 | TCCTCAGA others(50): Show |
T | conservative_inframe_deletion | MODERATE | NA18991.hp2 NA19060.hp1 |
a0000a0052 | a0000c0033a0052c0031 | a0000c0033t0003a0052c0031t0002 | a0000c0033t0003g0001a0052c0031t0002g0029 | 2 | 185 | 0.0108 | -57 | c.544 others(64): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 574/2493 | 544/2130 | 182/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| MUC20_chr3_195715978_195738551 | 195725120 | TCCTCAGA others(221): Show |
T | conservative_inframe_deletion | MODERATE | HG01993.hp1 | a0000 | a0000c0030 | a0000c0030t0003 | a0000c0030t0003g0026 | 1 | 185 | 0.0054 | -228 | c.544 others(7): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 574/2493 | 544/2130 | 182/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| MUC20_chr3_195715978_195738551 | 195725120 | TCCTCAGA others(335): Show |
T | conservative_inframe_deletion | MODERATE | HG00673.hp2 HG00733.hp1 HG00733.hp2 others(6): Show |
a0000a0015a0054 | a0000c0013a0000c0026a0000c0029others(3): Show | a0000c0013t0003a0000c0026t0004a0000c0029t0004others(4): Show | a0000c0013t0003g0001a0000c0026t0004g0103a0000c0029t0004g0102others(4): Show | 9 | 185 | 0.0487 | -342 | c.544 others(7): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 574/2493 | 544/2130 | 182/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| MUC20_chr3_195715978_195738551 | 195725120 | TCCTCAGA others(392): Show |
T | conservative_inframe_deletion | MODERATE | HG00544.hp1 HG00609.hp1 HG00639.hp2 others(17): Show |
a0000a0026a0027others(1): Show | a0000c0002a0000c0034a0026c0065others(2): Show | a0000c0002t0003a0000c0034t0003a0026c0065t0001others(2): Show | a0000c0002t0003g0001a0000c0002t0003g0025a0000c0002t0003g0028others(7): Show | 20 | 185 | 0.1081 | -399 | c.544 others(7): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 574/2493 | 544/2130 | 182/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| MUC20_chr3_195715978_195738551 | 195725120 | TCCTCAGA others(449): Show |
T | conservative_inframe_deletion | MODERATE | HG00544.hp2 HG00741.hp1 HG01975.hp1 others(17): Show |
a0000a0008a0011others(6): Show | a0000c0008a0000c0028a0008c0011others(8): Show | a0000c0008t0003a0000c0028t0004a0008c0011t0001others(8): Show | a0000c0008t0003g0001a0000c0008t0003g0012a0000c0008t0003g0027others(15): Show | 20 | 185 | 0.1081 | -456 | c.544 others(7): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 574/2493 | 544/2130 | 182/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| MUC20_chr3_195715978_195738551 | 195725120 | TCCTCAGA others(506): Show |
T | conservative_inframe_deletion | MODERATE | HG00609.hp2 HG00639.hp1 HG00735.hp1 others(48): Show |
a0001a0002a0004others(14): Show | a0001c0004a0001c0058a0001c0060others(16): Show | a0001c0004t0001a0001c0058t0001a0001c0060t0001others(16): Show | a0001c0004t0001g0007a0001c0004t0001g0015a0001c0004t0001g0016others(40): Show | 51 | 185 | 0.2757 | -513 | c.544 others(8): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 574/2493 | 544/2130 | 182/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| MUC20_chr3_195715978_195738551 | 195725120 | TCCTCAGA others(563): Show |
T | conservative_inframe_deletion | MODERATE | HG01167.hp1 HG01168.hp1 HG01261.hp1 others(6): Show |
a0006a0019a0025 | a0006c0012a0006c0024a0019c0018others(1): Show | a0006c0012t0002a0006c0024t0002a0019c0018t0001others(1): Show | a0006c0012t0002g0004a0006c0012t0002g0010a0006c0024t0002g0010others(3): Show | 9 | 185 | 0.0487 | -570 | c.544 others(8): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 574/2493 | 544/2130 | 182/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| MUC20_chr3_195715978_195738551 | 195725284 | GTCACGGG others(506): Show |
G | conservative_inframe_deletion | MODERATE | HG00673.hp1 HG01071.hp1 HG01123.hp2 others(42): Show |
a0001a0003a0014others(3): Show | a0001c0001a0001c0067a0001c0069others(5): Show | a0001c0001t0001a0001c0067t0001a0001c0069t0001others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0017others(26): Show | 45 | 185 | 0.2432 | -513 | c.685 others(8): Show |
p.Arg others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 715/2493 | 685/2130 | 229/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| MUC20_chr3_195715978_195738551 | 195725341 | GTCACGGG others(449): Show |
G | conservative_inframe_deletion | MODERATE | HG02257.hp2 NA18951.hp2 NA18991.hp1 others(1): Show |
a0016a0029a0048 | a0016c0021a0029c0066a0048c0041 | a0016c0021t0001a0029c0066t0001a0048c0041t0002 | a0016c0021t0001g0006a0029c0066t0001g0002a0048c0041t0002g0024 | 4 | 185 | 0.0216 | -456 | c.742 others(8): Show |
p.Arg others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 772/2493 | 742/2130 | 248/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| MUC21_chr6_30978718_30994903 | 30986486 | TAGCCACC others(38): Show |
T | conservative_inframe_deletion | MODERATE | HG03516.hp2 | a0012 | a0012c0021 | a0012c0021t0015 | a0012c0021t0015g0006 | 1 | 448 | 0.0022 | -45 | c.337 others(52): Show |
p.Thr others(13): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 2/3 | 578/3651 | 337/1701 | 113/566 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| MUC21_chr6_30978718_30994903 | 30986547 | GTCCAGCA others(83): Show |
G | conservative_inframe_deletion | MODERATE | HG01168.hp2 HG02148.hp2 HG02273.hp2 others(2): Show |
a0007 | a0007c0012 | a0007c0012t0007 | a0007c0012t0007g0007 | 5 | 448 | 0.0112 | -90 | c.382 others(97): Show |
p.Pro others(13): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 2/3 | 623/3651 | 382/1701 | 128/566 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| MUC22_chr6_31005474_31040402 | 31028377 | TGAGACCA others(23): Show |
T | conservative_inframe_deletion | MODERATE | HG02056.hp2 HG02080.hp1 HG02129.hp2 others(8): Show |
a0010a0130 | a0010c0014a0010c0047a0130c0078 | a0010c0014t0001a0010c0047t0001a0130c0078t0001 | a0010c0014t0001g0006a0010c0047t0001g0006a0130c0078t0001g0018 | 11 | 461 | 0.0239 | -30 | c.298 others(39): Show |
p.Thr others(14): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 3219/6019 | 2986/5322 | 996/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| MUC22_chr6_31005474_31040402 | 31028710 | GACC | G | conservative_inframe_deletion | MODERATE | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(42): Show |
a0002a0031a0033others(9): Show | a0002c0006a0002c0007a0031c0037others(11): Show | a0002c0006t0001a0002c0007t0001a0002c0007t0003others(12): Show | a0002c0006t0001g0010a0002c0006t0001g0011a0002c0006t0001g0024others(32): Show | 45 | 461 | 0.0976 | -3 | c.329 others(12): Show |
p.Thr others(7): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 3525/6019 | 3292/5322 | 1098/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| MUC22_chr6_31005474_31040402 | 31028943 | CAGGCTCT others(23): Show |
C | conservative_inframe_deletion | MODERATE | NA19004.hp1 | a0006 | a0006c0093 | a0006c0093t0001 | a0006c0093t0001g0001 | 1 | 461 | 0.0022 | -30 | c.355 others(39): Show |
p.Thr others(15): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 3786/6019 | 3553/5322 | 1185/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| MUC4_chr3_195741771_195816929 | 195778856 | CAAGAGGG others(1241): Show |
C | conservative_inframe_deletion | MODERATE | HG02451.hp2 | a0072 | a0072c0173 | a0072c0173t0004 | a0072c0173t0004g0225 | 1 | 249 | 0.0040 | -1248 | c.114 others(11): Show |
p.Pro others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12835/16756 | 11476/16239 | 3826/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195778871 | GACCTGTG others(1241): Show |
G | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG01106.hp2 others(3): Show |
a0026a0097a0175others(2): Show | a0026c0009a0097c0129a0175c0031others(2): Show | a0026c0009t0002a0097c0129t0002a0175c0031t0001others(2): Show | a0026c0009t0002g0112a0026c0009t0002g0192a0097c0129t0002g0188others(3): Show | 6 | 249 | 0.0241 | -1248 | c.114 others(11): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12820/16756 | 11461/16239 | 3821/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195779006 | GGGTGGTG others(665): Show |
G | conservative_inframe_deletion | MODERATE | HG01361.hp2 NA19043.hp2 |
a0176a0177 | a0176c0037a0177c0035 | a0176c0037t0002a0177c0035t0002 | a0176c0037t0002g0197a0177c0035t0002g0196 | 2 | 249 | 0.0080 | -672 | c.119 others(11): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12685/16756 | 11902/16239 | 3968/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195779135 | TGGTGACA others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG01891.hp1 HG02486.hp2 |
a0037a0107 | a0037c0149a0107c0041 | a0037c0149t0006a0107c0041t0001 | a0037c0149t0006g0079a0107c0041t0001g0179 | 2 | 249 | 0.0080 | -96 | c.123 others(107): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12556/16756 | 12349/16239 | 4117/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195779204 | CCTGACCT others(233): Show |
C | conservative_inframe_deletion | MODERATE | HG00280.hp2 | a0178 | a0178c0034 | a0178c0034t0002 | a0178c0034t0002g0194 | 1 | 249 | 0.0040 | -240 | c.121 others(11): Show |
p.Thr others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12487/16756 | 12136/16239 | 4046/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195779582 | GGGTGGCG others(89): Show |
G | conservative_inframe_deletion | MODERATE | HG02486.hp2 | a0037 | a0037c0149 | a0037c0149t0006 | a0037c0149t0006g0079 | 1 | 249 | 0.0040 | -96 | c.119 others(107): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12109/16756 | 11902/16239 | 3968/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195779708 | TGTCGGTG others(233): Show |
T | conservative_inframe_deletion | MODERATE | HG01975.hp1 HG02647.hp2 HG02717.hp1 others(1): Show |
a0066a0068a0069others(1): Show | a0066c0177a0068c0171a0069c0172others(1): Show | a0066c0177t0004a0068c0171t0005a0069c0172t0005others(1): Show | a0066c0177t0004g0226a0068c0171t0005g0229a0069c0172t0005g0230others(1): Show | 4 | 249 | 0.0161 | -240 | c.116 others(11): Show |
p.Leu others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11983/16756 | 11632/16239 | 3878/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195779927 | CACCTGTG others(137): Show |
C | conservative_inframe_deletion | MODERATE | HG03688.hp1 | a0081 | a0081c0189 | a0081c0189t0011 | a0081c0189t0011g0206 | 1 | 249 | 0.0040 | -144 | c.115 others(11): Show |
p.His others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11764/16756 | 11509/16239 | 3837/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195779975 | GACCTGTG others(41): Show |
G | conservative_inframe_deletion | MODERATE | HG00738.hp2 HG02004.hp2 |
a0173a0179 | a0173c0048a0179c0032 | a0173c0048t0001a0179c0032t0002 | a0173c0048t0001g0146a0179c0032t0002g0193 | 2 | 249 | 0.0080 | -48 | c.115 others(59): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11716/16756 | 11557/16239 | 3853/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195780119 | CACCTGTG others(41): Show |
C | conservative_inframe_deletion | MODERATE | HG02071.hp1 | a0145 | a0145c0070 | a0145c0070t0001 | a0145c0070t0001g0169 | 1 | 249 | 0.0040 | -48 | c.114 others(59): Show |
p.Gln others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11572/16756 | 11413/16239 | 3805/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195780359 | GACCTGTG others(185): Show |
G | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG02015.hp1 HG02040.hp2 others(10): Show |
a0011a0024a0025others(6): Show | a0011c0008a0011c0028a0024c0012others(7): Show | a0011c0008t0001a0011c0028t0001a0024c0012t0001others(7): Show | a0011c0008t0001g0058a0011c0008t0001g0059a0011c0028t0001g0057others(10): Show | 13 | 249 | 0.0522 | -192 | c.110 others(11): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11332/16756 | 11029/16239 | 3677/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195780479 | TGGTGACA others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG03540.hp1 | a0097 | a0097c0129 | a0097c0129t0002 | a0097c0129t0002g0188 | 1 | 249 | 0.0040 | -96 | c.110 others(107): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11212/16756 | 11005/16239 | 3669/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195780524 | TGTCCGTG others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG00280.hp2 HG01361.hp2 NA19043.hp2 |
a0176a0177a0178 | a0176c0037a0177c0035a0178c0034 | a0176c0037t0002a0177c0035t0002a0178c0034t0002 | a0176c0037t0002g0197a0177c0035t0002g0196a0178c0034t0002g0194 | 3 | 249 | 0.0121 | -96 | c.109 others(107): Show |
p.Ala others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11167/16756 | 10960/16239 | 3654/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195780623 | CGGTGACA others(41): Show |
C | conservative_inframe_deletion | MODERATE | HG01884.hp1 | a0073 | a0073c0176 | a0073c0176t0005 | a0073c0176t0005g0228 | 1 | 249 | 0.0040 | -48 | c.109 others(59): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11068/16756 | 10909/16239 | 3637/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195780647 | CACCTGTG others(41): Show |
C | conservative_inframe_deletion | MODERATE | HG02004.hp2 HG03098.hp2 |
a0069a0173 | a0069c0172a0173c0048 | a0069c0172t0005a0173c0048t0001 | a0069c0172t0005g0230a0173c0048t0001g0146 | 2 | 249 | 0.0080 | -48 | c.108 others(59): Show |
p.Gln others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11044/16756 | 10885/16239 | 3629/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195780695 | GACCTGTG others(41): Show |
G | conservative_inframe_deletion | MODERATE | HG01361.hp2 HG01891.hp1 NA19043.hp2 |
a0107a0176a0177 | a0107c0041a0176c0037a0177c0035 | a0107c0041t0001a0176c0037t0002a0177c0035t0002 | a0107c0041t0001g0179a0176c0037t0002g0197a0177c0035t0002g0196 | 3 | 249 | 0.0121 | -48 | c.108 others(59): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10996/16756 | 10837/16239 | 3613/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195780884 | CCTGACCT others(1145): Show |
C | conservative_inframe_deletion | MODERATE | HG01361.hp2 NA19043.hp2 |
a0176a0177 | a0176c0037a0177c0035 | a0176c0037t0002a0177c0035t0002 | a0176c0037t0002g0197a0177c0035t0002g0196 | 2 | 249 | 0.0080 | -1152 | c.954 others(10): Show |
p.Thr others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10807/16756 | 9544/16239 | 3182/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195781031 | GACCGGTG others(137): Show |
G | conservative_inframe_deletion | MODERATE | HG00140.hp1 | a0180 | a0180c0033 | a0180c0033t0002 | a0180c0033t0002g0195 | 1 | 249 | 0.0040 | -144 | c.104 others(11): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10660/16756 | 10405/16239 | 3469/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195781067 | GAGTGCTG others(185): Show |
G | conservative_inframe_deletion | MODERATE | HG01884.hp1 HG02976.hp1 HG03225.hp2 others(1): Show |
a0070a0073a0080others(1): Show | a0070c0174a0073c0176a0080c0170others(1): Show | a0070c0174t0002a0073c0176t0005a0080c0170t0005others(1): Show | a0070c0174t0002g0211a0073c0176t0005g0228a0080c0170t0005g0240others(1): Show | 4 | 249 | 0.0161 | -192 | c.103 others(11): Show |
p.Val others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10624/16756 | 10321/16239 | 3441/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195781247 | TGGTGACA others(185): Show |
T | conservative_inframe_deletion | MODERATE | HG00738.hp2 | a0179 | a0179c0032 | a0179c0032t0002 | a0179c0032t0002g0193 | 1 | 249 | 0.0040 | -192 | c.101 others(11): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10444/16756 | 10141/16239 | 3381/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195781259 | CAGGGGTG others(41): Show |
C | conservative_inframe_deletion | MODERATE | HG03669.hp2 | a0028 | a0028c0137 | a0028c0137t0002 | a0028c0137t0002g0024 | 1 | 249 | 0.0040 | -48 | c.102 others(59): Show |
p.Leu others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10432/16756 | 10273/16239 | 3425/5412 | chr3 | TogoVar |