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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MMP24OS_chr20_35271352_35283122 | 35277779 | CGGGCTGG others(5): Show |
C | conservative_inframe_deletion | MODERATE | HG03831.hp2 | a0008 | a0008c0015 | a0008c0015t0003 | a0008c0015t0003g0034 | 1 | 262 | 0.0038 | -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(106): Show |
a0001a0006a0007 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0013 others(104): Show |
109 | 318 | 0.3428 | -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 | a0018 | a0018c0014 | a0018c0014t0001 | a0018c0014t0001g0101 | 1 | 436 | 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 | a0008 | a0008c0006 | a0008c0006t0002 | a0008c0006t0002g0021 | 1 | 400 | 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 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0080 | 1 | 392 | 0.0026 | -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 |
a0001a0004a0012 | a0001c0002a0004c0005a0012c0013 | a0001c0002t0001a0004c0005t0007a0012c0013t0017 | a0001c0002t0001g0135 a0001c0002t0001g0157 a0004c0005t0007g0227 others(2): Show |
5 | 357 | 0.0140 | -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 |
a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0014 a0007c0007t0002g0021 |
5 | 396 | 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 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0164 | 1 | 404 | 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 | |||
MUC17_chr7_101015081_101063859 | 101035033 | TTACCAGC others(2996): Show |
T | conservative_inframe_deletion | MODERATE | HG02071.hp2 | a0034 | a0034c0032 | a0034c0032t0003 | a0034c0032t0003g0008 | 1 | 364 | 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 | a0034 | a0034c0032 | a0034c0032t0003 | a0034c0032t0003g0008 | 1 | 364 | 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 | a0052 | a0052c0033 | a0052c0033t0003 | a0052c0033t0003g0136 | 1 | 364 | 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 |
a0042a0046 | a0042c0027a0046c0028 | a0042c0027t0001a0046c0028t0002 | a0042c0027t0001g0029 a0046c0028t0002g0001 |
2 | 74 | 0.0270 | -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 | a0026 | a0026c0029 | a0026c0029t0002 | a0026c0029t0002g0026 | 1 | 73 | 0.0137 | -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 |
a0011a0015a0016others(1): Show | a0011c0010a0015c0023a0015c0026others(2): Show | a0011c0010t0002a0015c0023t0003a0015c0026t0003others(2): Show | a0011c0010t0002g0001 a0011c0010t0002g0012 a0015c0023t0003g0096 others(4): Show |
9 | 81 | 0.1111 | -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 |
a0003a0023a0027others(1): Show | a0003c0002a0023c0052a0027c0051others(1): Show | a0003c0002t0002a0023c0052t0001a0027c0051t0001others(1): Show | a0003c0002t0002g0001 a0003c0002t0002g0025 a0003c0002t0002g0028 others(6): Show |
20 | 92 | 0.2174 | -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 |
a0008a0010a0012others(6): Show | a0008c0011a0008c0059a0010c0008others(8): Show | a0008c0011t0001a0008c0059t0001a0010c0008t0002others(8): Show | a0008c0011t0001g0003 a0008c0011t0001g0038 a0008c0011t0001g0063 others(15): Show |
20 | 92 | 0.2174 | -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(47): Show |
a0002a0005a0009others(6): Show | a0002c0004a0002c0006a0002c0018others(15): Show | a0002c0004t0001a0002c0006t0001a0002c0018t0001others(15): Show | a0002c0004t0001g0003 a0002c0004t0001g0058 a0002c0004t0001g0061 others(37): Show |
50 | 122 | 0.4098 | -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 |
a0007a0021a0044 | a0007c0012a0007c0021a0021c0017others(1): Show | a0007c0012t0001a0007c0021t0001a0021c0017t0001others(1): Show | a0007c0012t0001g0005 a0007c0012t0001g0010 a0007c0021t0001g0010 others(3): Show |
9 | 81 | 0.1111 | -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 |
a0001a0004a0006others(3): Show | a0001c0001a0001c0047a0001c0061others(5): Show | a0001c0001t0001a0001c0047t0001a0001c0061t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0017 others(22): Show |
45 | 184 | 0.2446 | -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 |
a0001a0029a0047 | a0001c0001a0029c0036a0047c0045 | a0001c0001t0001a0029c0036t0001a0047c0045t0001 | a0001c0001t0001g0007 a0029c0036t0001g0024 a0047c0045t0001g0002 |
4 | 184 | 0.0217 | -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 | a0016 | a0016c0021 | a0016c0021t0015 | a0016c0021t0015g0006 | 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 |
a0009a0011 | a0009c0010a0011c0014a0011c0042 | a0009c0010t0001a0011c0014t0001a0011c0042t0001 | a0009c0010t0001g0018 a0011c0014t0001g0007 a0011c0042t0001g0007 |
11 | 460 | 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 |
a0001a0015a0020others(7): Show | a0001c0001a0001c0004a0001c0036others(10): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0058 others(29): Show |
45 | 460 | 0.0978 | -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 | a0007 | a0007c0022 | a0007c0022t0001 | a0007c0022t0001g0001 | 1 | 434 | 0.0023 | -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 | a0065 | a0065c0142 | a0065c0142t0004 | a0065c0142t0004g0223 | 1 | 248 | 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 |
a0014a0027a0028others(2): Show | a0014c0012a0027c0033a0028c0034others(2): Show | a0014c0012t0002a0027c0033t0002a0028c0034t0002others(2): Show | a0014c0012t0002g0062 a0014c0012t0002g0190 a0027c0033t0002g0189 others(3): Show |
6 | 248 | 0.0242 | -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 |
a0015 | a0015c0011 | a0015c0011t0002 | a0015c0011t0002g0194 a0015c0011t0002g0195 |
2 | 247 | 0.0081 | -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 |
a0048a0067 | a0048c0040a0067c0120 | a0048c0040t0001a0067c0120t0006 | a0048c0040t0001g0135 a0067c0120t0006g0029 |
2 | 241 | 0.0083 | -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 | a0029 | a0029c0036 | a0029c0036t0002 | a0029c0036t0002g0192 | 1 | 246 | 0.0041 | -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 | a0067 | a0067c0120 | a0067c0120t0006 | a0067c0120t0006g0029 | 1 | 247 | 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 |
a0050a0073a0074others(1): Show | a0050c0143a0073c0139a0074c0137others(1): Show | a0050c0143t0004a0073c0139t0005a0074c0137t0005others(1): Show | a0050c0143t0004g0224 a0073c0139t0005g0225 a0074c0137t0005g0227 others(1): Show |
4 | 134 | 0.0299 | -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 | a0095 | a0095c0151 | a0095c0151t0011 | a0095c0151t0011g0205 | 1 | 156 | 0.0064 | -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 |
a0035a0053 | a0035c0035a0053c0046 | a0035c0035t0002a0053c0046t0001 | a0035c0035t0002g0191 a0053c0046t0001g0098 |
2 | 247 | 0.0081 | -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 | a0056 | a0056c0068 | a0056c0068t0001 | a0056c0068t0001g0125 | 1 | 202 | 0.0050 | -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 |
a0010a0017a0018others(5): Show | a0010c0010a0010c0029a0017c0015others(7): Show | a0010c0010t0001a0010c0029t0001a0017c0015t0001others(7): Show | a0010c0010t0001g0121 a0010c0010t0001g0122 a0010c0029t0001g0120 others(10): Show |
13 | 245 | 0.0531 | -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 | a0092 | a0092c0102 | a0092c0102t0002 | a0092c0102t0002g0182 | 1 | 129 | 0.0078 | -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 |
a0015a0029 | a0015c0011a0029c0036 | a0015c0011t0002a0029c0036t0002 | a0015c0011t0002g0194 a0015c0011t0002g0195 a0029c0036t0002g0192 |
3 | 140 | 0.0214 | -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 | a0047 | a0047c0140 | a0047c0140t0005 | a0047c0140t0005g0226 | 1 | 220 | 0.0045 | -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 |
a0053a0084 | a0053c0046a0084c0138 | a0053c0046t0001a0084c0138t0005 | a0053c0046t0001g0098 a0084c0138t0005g0228 |
2 | 153 | 0.0131 | -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 |
a0015a0048 | a0015c0011a0048c0040 | a0015c0011t0002a0048c0040t0001 | a0015c0011t0002g0194 a0015c0011t0002g0195 a0048c0040t0001g0135 |
3 | 221 | 0.0136 | -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 |
a0015 | a0015c0011 | a0015c0011t0002 | a0015c0011t0002g0194 a0015c0011t0002g0195 |
2 | 247 | 0.0081 | -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 | a0028 | a0028c0034 | a0028c0034t0002 | a0028c0034t0002g0193 | 1 | 235 | 0.0043 | -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 |
a0047a0080a0090others(1): Show | a0047c0140a0080c0141a0090c0097others(1): Show | a0047c0140t0005a0080c0141t0002a0090c0097t0003others(1): Show | a0047c0140t0005g0226 a0080c0141t0002g0219 a0090c0097t0003g0067 others(1): Show |
4 | 248 | 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 | a0035 | a0035c0035 | a0035c0035t0002 | a0035c0035t0002g0191 | 1 | 127 | 0.0079 | -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 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0142 | 1 | 105 | 0.0095 | -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 | |||
MUC4_chr3_195741771_195816929 | 195781535 | CGGTGACA others(41): Show |
C | conservative_inframe_deletion | MODERATE | NA18999.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 156 | 0.0064 | -48 | c.999 others(58): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10156/16756 | 9997/16239 | 3333/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195781619 | CTGAGGAA others(89): Show |
C | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00738.hp2 HG01106.hp2 others(4): Show |
a0014a0027a0035others(3): Show | a0014c0012a0027c0033a0035c0035others(3): Show | a0014c0012t0002a0027c0033t0002a0035c0035t0002others(3): Show | a0014c0012t0002g0062 a0014c0012t0002g0190 a0027c0033t0002g0189 others(4): Show |
7 | 244 | 0.0287 | -96 | c.986 others(105): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10072/16756 | 9865/16239 | 3289/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195781655 | GACCTGTG others(41): Show |
G | conservative_inframe_deletion | MODERATE | HG01884.hp1 HG02976.hp1 |
a0047a0080 | a0047c0140a0080c0141 | a0047c0140t0005a0080c0141t0002 | a0047c0140t0005g0226 a0080c0141t0002g0219 |
2 | 157 | 0.0127 | -48 | c.987 others(57): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10036/16756 | 9877/16239 | 3293/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782255 | TAGTGACA others(185): Show |
T | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(4): Show |
a0014a0027a0028others(3): Show | a0014c0012a0027c0033a0028c0034others(3): Show | a0014c0012t0002a0027c0033t0002a0028c0034t0002others(3): Show | a0014c0012t0002g0062 a0014c0012t0002g0190 a0027c0033t0002g0189 others(4): Show |
7 | 155 | 0.0452 | -192 | c.913 others(9): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 9436/16756 | 9133/16239 | 3045/5412 | chr3 | TogoVar |