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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTERF4_chr2_241090571_241107287 | 241096109 | GTCATCC | G | disruptive_inframe_deletion | MODERATE | HG02451.hp2 HG03453.hp2 HG03471.hp1 others(2): Show |
a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0014 a0007c0007t0002g0021 |
5 | 396 | 0.0126 | -6 | c.102 others(15): Show |
p.Glu others(13): Show |
MTERF4 | ENSG00000122085.17 | transcript | ENST00000391980.7 | protein_coding | 4/4 | 1048/1587 | 1029/1146 | 343/381 | chr2 | TogoVar | |||
MUC12_chr7_100964565_101023936 | 100996382 | GACCAGGC others(1415): Show |
G | disruptive_inframe_deletion | MODERATE | NA19066.hp1 | a0134 | a0134c0079 | a0134c0079t0001 | a0134c0079t0001g0123 | 1 | 340 | 0.0029 | -1422 | c.609 others(9): Show |
p.Leu others(15): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 6151/16366 | 6093/16008 | 2031/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100996789 | GCCTTCCA others(1415): Show |
G | disruptive_inframe_deletion | MODERATE | HG02109.hp1 HG02602.hp1 HG02630.hp1 others(9): Show |
a0012a0020a0036others(2): Show | a0012c0018a0012c0019a0012c0081others(4): Show | a0012c0018t0001a0012c0019t0001a0012c0081t0001others(4): Show | a0012c0018t0001g0284 a0012c0018t0001g0285 a0012c0019t0001g0084 others(8): Show |
12 | 340 | 0.0353 | -1422 | c.677 others(9): Show |
p.Thr others(15): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 6834/16366 | 6776/16008 | 2259/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101003637 | CAGCCCGA others(572): Show |
C | disruptive_inframe_deletion | MODERATE | HG02109.hp1 HG02602.hp1 HG02630.hp1 others(10): Show |
a0012a0020a0036others(3): Show | a0012c0018a0012c0019a0012c0081others(5): Show | a0012c0018t0001a0012c0019t0001a0012c0081t0001others(5): Show | a0012c0018t0001g0284 a0012c0018t0001g0285 a0012c0019t0001g0084 others(9): Show |
13 | 340 | 0.0382 | -579 | c.131 others(11): Show |
p.Leu others(15): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13180/16366 | 13122/16008 | 4374/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 101003685 | ATTGGGCC others(572): Show |
C | disruptive_inframe_deletion | MODERATE | NA18941.hp2 | a0121 | a0121c0177 | a0121c0177t0001 | a0121c0177t0001g0127 | 1 | 14 | 0.0714 | -579 | c.131 others(11): Show |
p.Leu others(15): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13180/16366 | 13122/16008 | 4374/5335 | chr7 | TogoVar | |||
MUC13_chr3_124900442_124939751 | 124927858 | AAAG | A | disruptive_inframe_deletion | MODERATE | HG02486.hp1 HG02572.hp2 HG02647.hp1 others(2): Show |
a0006a0007 | a0006c0006a0007c0015 | a0006c0006t0002a0007c0015t0002 | a0006c0006t0002g0016 a0006c0006t0002g0279 a0007c0015t0002g0216 |
5 | 450 | 0.0111 | -3 | c.185 others(10): Show |
p.Ser others(5): Show |
MUC13 | ENSG00000173702.7 | transcript | ENST00000616727.4 | protein_coding | 2/12 | 226/2879 | 185/1539 | 62/512 | chr3 | TogoVar | |||
MUC13_chr3_124900442_124939751 | 124927969 | TCAGCTGA others(37): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG03831.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0222 | 1 | 450 | 0.0022 | -44 | c.53- others(52): Show |
p.Ala others(11): Show |
MUC13 | ENSG00000173702.7 | transcript | ENST00000616727.4 | protein_coding | 2/12 | 115/2879 | 53/1539 | 18/512 | chr3 | TogoVar | |||
MUC17_chr7_101015081_101063859 | 101036478 | GGAAGAAC others(1406): Show |
G | disruptive_inframe_deletion | MODERATE | NA18982.hp1 | a0052 | a0052c0033 | a0052c0033t0003 | a0052c0033t0003g0136 | 1 | 364 | 0.0027 | -1413 | c.508 others(9): Show |
p.Ile others(15): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5140/14352 | 5085/13482 | 1695/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC17_chr7_101015081_101063859 | 101038780 | CCACTCCG others(1586): Show |
C | disruptive_inframe_deletion | MODERATE | NA18982.hp1 | a0052 | a0052c0033 | a0052c0033t0003 | a0052c0033t0003g0136 | 1 | 364 | 0.0027 | -1593 | c.736 others(9): Show |
p.Thr others(15): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 7420/14352 | 7365/13482 | 2455/4493 | chr7 | TogoVar | |||
MUC17_chr7_101015081_101063859 | 101039275 | ATACCAGC others(1586): Show |
A | disruptive_inframe_deletion | MODERATE | HG01496.hp1 HG01943.hp1 HG01981.hp1 |
a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0015 | 3 | 364 | 0.0082 | -1593 | c.787 others(9): Show |
p.Ile others(15): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 7929/14352 | 7874/13482 | 2625/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC20_chr3_195715978_195738551 | 195721040 | TTTC | T | disruptive_inframe_deletion | MODERATE | HG01978.hp2 HG02109.hp1 HG02280.hp1 others(4): Show |
a0013a0017a0030others(1): Show | a0013c0015a0013c0035a0017c0033others(3): Show | a0013c0015t0001a0013c0035t0001a0017c0033t0001others(3): Show | a0013c0015t0001g0013 a0013c0015t0001g0034 a0013c0035t0001g0036 others(4): Show |
7 | 184 | 0.0380 | -3 | c.41_ others(8): Show |
p.Phe others(5): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 1/4 | 71/2493 | 41/2130 | 14/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
MUC20_chr3_195715978_195738551 | 195725147 | AGCCCCCA others(335): Show |
A | disruptive_inframe_deletion | MODERATE | NA18944.hp1 NA18959.hp2 NA18965.hp1 others(5): Show |
a0004a0043 | a0004c0003a0043c0043 | a0004c0003t0001a0043c0043t0001 | a0004c0003t0001g0004 a0004c0003t0001g0091 a0043c0043t0001g0004 |
8 | 131 | 0.0611 | -342 | c.719 others(8): Show |
p.Pro others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 749/2493 | 719/2130 | 240/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
MUC20_chr3_195715978_195738551 | 195725147 | AGCCCCCA others(392): Show |
A | disruptive_inframe_deletion | MODERATE | HG01074.hp2 NA18966.hp2 NA18969.hp2 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0004 a0004c0003t0001g0009 |
3 | 126 | 0.0238 | -399 | c.662 others(8): Show |
p.Pro others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 692/2493 | 662/2130 | 221/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
MUC20_chr3_195715978_195738551 | 195725147 | AGCCCCCA others(563): Show |
A | disruptive_inframe_deletion | MODERATE | HG02965.hp2 | a0038 | a0038c0031 | a0038c0031t0001 | a0038c0031t0001g0074 | 1 | 124 | 0.0081 | -570 | c.624 others(8): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 654/2493 | 624/2130 | 208/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
MUC20_chr3_195715978_195738551 | 195725151 | CCCATCCA others(506): Show |
C | disruptive_inframe_deletion | MODERATE | HG02280.hp1 | a0030 | a0030c0032 | a0030c0032t0001 | a0030c0032t0001g0044 | 1 | 184 | 0.0054 | -513 | c.681 others(8): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 711/2493 | 681/2130 | 227/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
MUC20_chr3_195715978_195738551 | 195725208 | CCCATCCA others(449): Show |
C | disruptive_inframe_deletion | MODERATE | HG03704.hp1 | a0040 | a0040c0046 | a0040c0046t0001 | a0040c0046t0001g0064 | 1 | 184 | 0.0054 | -456 | c.738 others(8): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 768/2493 | 738/2130 | 246/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
MUC20_chr3_195715978_195738551 | 195725265 | CCCATCCA others(392): Show |
C | disruptive_inframe_deletion | MODERATE | HG02280.hp2 | a0014 | a0014c0013 | a0014c0013t0001 | a0014c0013t0001g0102 | 1 | 180 | 0.0056 | -399 | c.795 others(8): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 825/2493 | 795/2130 | 265/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
MUC20_chr3_195715978_195738551 | 195725322 | CCCATCCA others(335): Show |
C | disruptive_inframe_deletion | MODERATE | HG01123.hp1 HG01975.hp2 HG02293.hp2 others(3): Show |
a0004a0014 | a0004c0003a0014c0013 | a0004c0003t0001a0014c0013t0001 | a0004c0003t0001g0009 a0004c0003t0001g0020 a0004c0003t0001g0092 others(2): Show |
6 | 183 | 0.0328 | -342 | c.852 others(8): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 882/2493 | 852/2130 | 284/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
MUC20_chr3_195715978_195738551 | 195725379 | CCCATCCA others(278): Show |
C | disruptive_inframe_deletion | MODERATE | HG03831.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0020 | 1 | 183 | 0.0055 | -285 | c.909 others(8): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 939/2493 | 909/2130 | 303/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
MUC20_chr3_195715978_195738551 | 195725550 | CCCATCCA others(107): Show |
C | disruptive_inframe_deletion | MODERATE | NA18991.hp2 | a0042 | a0042c0027 | a0042c0027t0001 | a0042c0027t0001g0029 | 1 | 184 | 0.0054 | -114 | c.106 others(9): Show |
p.Leu others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 1091/2493 | 1061/2130 | 354/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
MUC20_chr3_195715978_195738551 | 195725607 | CCCATCCA others(50): Show |
C | disruptive_inframe_deletion | MODERATE | NA19060.hp1 | a0046 | a0046c0028 | a0046c0028t0002 | a0046c0028t0002g0001 | 1 | 184 | 0.0054 | -57 | c.106 others(66): Show |
p.Leu others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 1091/2493 | 1061/2130 | 354/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
MUC20_chr3_195715978_195738551 | 195725664 | TCCATCCA others(50): Show |
T | disruptive_inframe_deletion | MODERATE | HG01993.hp1 | a0026 | a0026c0029 | a0026c0029t0002 | a0026c0029t0002g0026 | 1 | 84 | 0.0119 | -57 | c.113 others(66): Show |
p.Ser others(13): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 1167/2493 | 1137/2130 | 379/709 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
MUC20_chr3_195715978_195738551 | 195726176 | GTTAGCA | G | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01071.hp2 HG02109.hp2 others(1): Show |
a0024a0025a0027others(1): Show | a0024c0039a0025c0038a0027c0051others(1): Show | a0024c0039t0001a0025c0038t0001a0027c0051t0001others(1): Show | a0024c0039t0001g0014 a0025c0038t0001g0040 a0027c0051t0001g0045 others(1): Show |
4 | 184 | 0.0217 | -6 | c.157 others(15): Show |
p.Val others(19): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 2/4 | 1604/2493 | 1574/2130 | 525/709 | chr3 | TogoVar | |||
MUC21_chr6_30978718_30994903 | 30987342 | AGCCACCA others(83): Show |
A | disruptive_inframe_deletion | MODERATE | HG01168.hp2 HG02148.hp2 HG02273.hp2 others(2): Show |
a0007 | a0007c0012 | a0007c0012t0007 | a0007c0012t0007g0007 | 5 | 448 | 0.0112 | -90 | c.117 others(99): Show |
p.Thr others(13): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 2/3 | 1416/3651 | 1175/1701 | 392/566 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31025968 | CACCACAG others(23): Show |
C | disruptive_inframe_deletion | MODERATE | HG02451.hp2 | a0062 | a0062c0099 | a0062c0099t0010 | a0062c0099t0010g0157 | 1 | 460 | 0.0022 | -30 | c.555 others(37): Show |
p.Ala others(13): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 788/6019 | 555/5322 | 185/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31026229 | CACCACCA others(1067): Show |
C | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(20): Show |
a0006a0054a0079 | a0006c0006a0006c0050a0006c0078others(4): Show | a0006c0006t0001a0006c0006t0002a0006c0050t0001others(5): Show | a0006c0006t0001g0021 a0006c0006t0001g0026 a0006c0006t0001g0045 others(14): Show |
23 | 460 | 0.0500 | -1074 | c.816 others(8): Show |
p.Thr others(13): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 1049/6019 | 816/5322 | 272/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31026241 | CTCTACCA others(1037): Show |
C | disruptive_inframe_deletion | MODERATE | HG01884.hp2 HG06807.hp2 |
a0040 | a0040c0043 | a0040c0043t0001 | a0040c0043t0001g0049 | 2 | 460 | 0.0043 | -1044 | c.834 others(8): Show |
p.Thr others(13): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 1067/6019 | 834/5322 | 278/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31026249 | CAGGCTCT others(1067): Show |
C | disruptive_inframe_deletion | MODERATE | HG02027.hp2 HG02135.hp2 |
a0041 | a0041c0051 | a0041c0051t0001 | a0041c0051t0001g0050 | 2 | 453 | 0.0044 | -1074 | c.834 others(8): Show |
p.Thr others(13): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 1067/6019 | 834/5322 | 278/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31026777 | TCTCTACT others(530): Show |
T | disruptive_inframe_deletion | MODERATE | HG04115.hp1 | a0002 | a0002c0097 | a0002c0097t0001 | a0002c0097t0001g0205 | 1 | 460 | 0.0022 | -537 | c.135 others(9): Show |
p.Ala others(13): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 1588/6019 | 1355/5322 | 452/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31027084 | GGGCTCTG others(1853): Show |
G | disruptive_inframe_deletion | MODERATE | NA18942.hp1 NA18945.hp1 NA18955.hp1 others(13): Show |
a0008 | a0008c0008 | a0008c0008t0004 | a0008c0008t0004g0006 a0008c0008t0004g0145 a0008c0008t0004g0146 others(3): Show |
16 | 456 | 0.0351 | -1860 | c.166 others(9): Show |
p.Met others(14): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 1901/6019 | 1668/5322 | 556/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31027084 | GGGCTCTG others(1883): Show |
G | disruptive_inframe_deletion | MODERATE | HG01109.hp2 HG02559.hp1 HG02809.hp1 others(1): Show |
a0032a0063 | a0032c0045a0032c0111a0063c0100 | a0032c0045t0001a0032c0045t0003a0032c0111t0001others(1): Show | a0032c0045t0001g0141 a0032c0045t0003g0129 a0032c0111t0001g0139 others(1): Show |
4 | 444 | 0.0090 | -1890 | c.166 others(9): Show |
p.Met others(14): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 1901/6019 | 1668/5322 | 556/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31027222 | AGTCTCTA others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG02738.hp2 | a0067 | a0067c0098 | a0067c0098t0001 | a0067c0098t0001g0076 | 1 | 460 | 0.0022 | -18 | c.179 others(27): Show |
p.Val others(13): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 2026/6019 | 1793/5322 | 598/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31027315 | CTCTACTG others(23): Show |
C | disruptive_inframe_deletion | MODERATE | HG02451.hp1 NA19030.hp2 |
a0061a0087 | a0061c0108a0087c0143 | a0061c0108t0001a0087c0143t0011 | a0061c0108t0001g0185 a0087c0143t0011g0186 |
2 | 460 | 0.0043 | -30 | c.188 others(39): Show |
p.Thr others(13): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 2120/6019 | 1887/5322 | 629/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31028366 | ATCACAGG others(1586): Show |
A | disruptive_inframe_deletion | MODERATE | NA19080.hp2 | a0090 | a0090c0096 | a0090c0096t0003 | a0090c0096t0003g0218 | 1 | 460 | 0.0022 | -1593 | c.296 others(9): Show |
p.Ala others(14): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 3193/6019 | 2960/5322 | 987/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31028430 | AAGGCTCC others(23): Show |
A | disruptive_inframe_deletion | MODERATE | HG04204.hp1 | a0076 | a0076c0072 | a0076c0072t0001 | a0076c0072t0001g0018 | 1 | 460 | 0.0022 | -30 | c.300 others(39): Show |
p.Glu others(15): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 3239/6019 | 3006/5322 | 1002/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31029663 | TAGGCTCT others(23): Show |
T | disruptive_inframe_deletion | MODERATE | HG02572.hp2 | a0023 | a0023c0018 | a0023c0018t0003 | a0023c0018t0003g0190 | 1 | 460 | 0.0022 | -30 | c.425 others(39): Show |
p.Ser others(15): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 4484/6019 | 4251/5322 | 1417/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31029782 | GCAGGCTC others(23): Show |
G | disruptive_inframe_deletion | MODERATE | HG01123.hp1 HG01168.hp2 HG01169.hp1 others(4): Show |
a0012a0024a0025others(1): Show | a0012c0110a0024c0027a0025c0052others(1): Show | a0012c0110t0001a0024c0027t0001a0025c0052t0001others(1): Show | a0012c0110t0001g0087 a0024c0027t0001g0038 a0024c0027t0001g0066 others(3): Show |
7 | 460 | 0.0152 | -30 | c.436 others(39): Show |
p.Thr others(15): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 4600/6019 | 4367/5322 | 1456/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195751094 | GGCCGGTG others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG01192.hp2 HG01891.hp2 HG02145.hp2 others(2): Show |
a0038a0049a0058others(2): Show | a0038c0161a0049c0159a0058c0162others(2): Show | a0038c0161t0015a0049c0159t0008a0058c0162t0009others(2): Show | a0038c0161t0015g0234 a0049c0159t0008g0220 a0058c0162t0009g0237 others(2): Show |
5 | 248 | 0.0202 | -9 | c.156 others(20): Show |
p.Ala others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 23/25 | 15777/16756 | 15657/16239 | 5219/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195778999 | GGAAGAGG others(377): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG01975.hp1 HG02015.hp1 others(15): Show |
a0010a0017a0018others(10): Show | a0010c0010a0010c0029a0017c0015others(12): Show | a0010c0010t0001a0010c0029t0001a0017c0015t0001others(12): Show | a0010c0010t0001g0121 a0010c0010t0001g0122 a0010c0029t0001g0120 others(15): Show |
18 | 246 | 0.0732 | -384 | c.121 others(11): Show |
p.His others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12692/16756 | 12197/16239 | 4066/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779011 | GTGTCACC others(41): Show |
G | disruptive_inframe_deletion | MODERATE | HG00280.hp2 HG00738.hp2 HG01884.hp1 others(5): Show |
a0007a0025a0029others(5): Show | a0007c0100a0025c0069a0029c0036others(5): Show | a0007c0100t0001a0025c0069t0001a0029c0036t0002others(5): Show | a0007c0100t0001g0111 a0025c0069t0001g0059 a0029c0036t0002g0192 others(5): Show |
8 | 248 | 0.0323 | -48 | c.125 others(59): Show |
p.Gly others(21): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12680/16756 | 12521/16239 | 4174/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779095 | GGAAGAGA others(281): Show |
G | disruptive_inframe_deletion | MODERATE | HG02071.hp1 | a0056 | a0056c0068 | a0056c0068t0001 | a0056c0068t0001g0125 | 1 | 247 | 0.0040 | -288 | c.121 others(11): Show |
p.His others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12596/16756 | 12197/16239 | 4066/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779116 | GAGGATGC others(233): Show |
G | disruptive_inframe_deletion | MODERATE | HG00738.hp2 HG02040.hp1 HG03130.hp1 |
a0007a0035a0085 | a0007c0100a0035c0035a0085c0095 | a0007c0100t0001a0035c0035t0002a0085c0095t0001 | a0007c0100t0001g0111 a0035c0035t0002g0191 a0085c0095t0001g0139 |
3 | 248 | 0.0121 | -240 | c.122 others(11): Show |
p.Arg others(21): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12575/16756 | 12224/16239 | 4075/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779212 | GTGGATGC others(137): Show |
G | disruptive_inframe_deletion | MODERATE | NA18906.hp2 NA18959.hp1 |
a0025a0102 | a0025c0069a0102c0136 | a0025c0069t0001a0102c0136t0005 | a0025c0069t0001g0059 a0102c0136t0005g0240 |
2 | 248 | 0.0081 | -144 | c.122 others(11): Show |
p.Arg others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12479/16756 | 12224/16239 | 4075/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779335 | GGAAGAGT others(41): Show |
G | disruptive_inframe_deletion | MODERATE | HG02723.hp2 | a0077 | a0077c0121 | a0077c0121t0007 | a0077c0121t0007g0185 | 1 | 159 | 0.0063 | -48 | c.121 others(59): Show |
p.His others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12356/16756 | 12197/16239 | 4066/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779410 | AATGAGGA others(41): Show |
A | disruptive_inframe_deletion | MODERATE | HG03225.hp2 | a0090 | a0090c0097 | a0090c0097t0003 | a0090c0097t0003g0067 | 1 | 120 | 0.0083 | -48 | c.121 others(59): Show |
p.Ala others(21): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12281/16756 | 12122/16239 | 4041/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779506 | GCTGAGGA others(41): Show |
G | disruptive_inframe_deletion | MODERATE | HG00642.hp1 | a0033 | a0033c0130 | a0033c0130t0002 | a0033c0130t0002g0174 | 1 | 220 | 0.0045 | -48 | c.120 others(59): Show |
p.Val others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12185/16756 | 12026/16239 | 4009/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779580 | AGGGGTGG others(41): Show |
A | disruptive_inframe_deletion | MODERATE | HG00738.hp2 HG02040.hp1 HG02145.hp2 others(2): Show |
a0007a0035a0058others(2): Show | a0007c0100a0035c0035a0058c0162others(2): Show | a0007c0100t0001a0035c0035t0002a0058c0162t0009others(2): Show | a0007c0100t0001g0111 a0035c0035t0002g0191 a0058c0162t0009g0237 others(2): Show |
5 | 247 | 0.0202 | -48 | c.119 others(59): Show |
p.Leu others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12111/16756 | 11952/16239 | 3984/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779587 | GCGTGACC others(761): Show |
G | disruptive_inframe_deletion | MODERATE | HG00280.hp2 | a0029 | a0029c0036 | a0029c0036t0002 | a0029c0036t0002g0192 | 1 | 244 | 0.0041 | -768 | c.112 others(11): Show |
p.Val others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12104/16756 | 11225/16239 | 3742/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779601 | TACTGAGG others(329): Show |
T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG02015.hp1 HG02040.hp2 others(9): Show |
a0010a0017a0018others(4): Show | a0010c0010a0010c0029a0017c0015others(6): Show | a0010c0010t0001a0010c0029t0001a0017c0015t0001others(6): Show | a0010c0010t0001g0121 a0010c0010t0001g0122 a0010c0029t0001g0120 others(9): Show |
12 | 247 | 0.0486 | -336 | c.116 others(11): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12090/16756 | 11643/16239 | 3881/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195779650 | GCTGAGGA others(41): Show |
G | disruptive_inframe_deletion | MODERATE | HG03098.hp1 | a0083 | a0083c0116 | a0083c0116t0008 | a0083c0116t0008g0068 | 1 | 238 | 0.0042 | -48 | c.118 others(59): Show |
p.Val others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12041/16756 | 11882/16239 | 3961/5412 | chr3 | TogoVar |