| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MEF2A_chr15_99560984_99721488 | 99712504 | C | CCAG | disruptive_inframe_insertion | MODERATE | HG02145.hp1 NA18945.hp2 NA19056.hp2 |
a0010 | a0010c0020a0010c0035 | a0010c0020t0001a0010c0020t0049a0010c0035t0122 | a0010c0020t0001g0177a0010c0020t0049g0235a0010c0035t0122g0334 | 3 | 376 | 0.0080 | 3 | c.128 others(12): Show |
p.Gln others(6): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1631/5580 | 1286/1518 | 429/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| MEF2A_chr15_99560984_99721488 | 99712504 | C | CCAGCAG | disruptive_inframe_insertion | MODERATE | HG00733.hp2 HG00735.hp1 HG01099.hp2 others(8): Show |
a0004 | a0004c0008a0004c0019 | a0004c0008t0009a0004c0008t0047a0004c0008t0050others(2): Show | a0004c0008t0009g0032a0004c0008t0009g0033a0004c0008t0009g0034others(8): Show | 11 | 376 | 0.0293 | 6 | c.128 others(15): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1631/5580 | 1286/1518 | 429/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| MEF2A_chr15_99560984_99721488 | 99712504 | C | CCAGCAGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG03688.hp1 NA18942.hp2 NA19010.hp1 others(1): Show |
a0007 | a0007c0016a0007c0026 | a0007c0016t0018a0007c0016t0067a0007c0026t0024 | a0007c0016t0018g0060a0007c0016t0018g0081a0007c0016t0067g0074others(1): Show | 4 | 376 | 0.0106 | 9 | c.127 others(18): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1631/5580 | 1286/1518 | 429/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| MEF2A_chr15_99560984_99721488 | 99712504 | C | CCAGCAGC others(8): Show |
disruptive_inframe_insertion | MODERATE | NA19002.hp1 | a0018 | a0018c0025 | a0018c0025t0001 | a0018c0025t0001g0173 | 1 | 376 | 0.0027 | 15 | c.127 others(24): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1631/5580 | 1286/1518 | 429/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| MEIOSIN_chr19_45728439_45769541 | 45761789 | A | ATCCAGC | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(208): Show |
a0000a0001a0005others(9): Show | a0000c0007a0000c0032a0001c0001others(13): Show | a0000c0007t0001a0000c0007t0002a0000c0032t0002others(16): Show | a0000c0007t0001g0006a0000c0007t0001g0100a0000c0007t0001g0177others(194): Show | 211 | 360 | 0.5861 | 6 | c.138 others(15): Show |
p.Ser others(13): Show |
MEIOSIN | ENSG00000237452.3 | transcript | ENST00000457052.3 | protein_coding | 12/15 | 1623/2568 | 1395/1917 | 465/638 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| MEIOSIN_chr19_45728439_45769541 | 45761789 | A | ATCCAGCT others(5): Show |
disruptive_inframe_insertion | MODERATE | HG03579.hp2 | a0017 | a0017c0015 | a0017c0015t0001 | a0017c0015t0001g0028 | 1 | 360 | 0.0028 | 12 | c.138 others(21): Show |
p.Ser others(13): Show |
MEIOSIN | ENSG00000237452.3 | transcript | ENST00000457052.3 | protein_coding | 12/15 | 1623/2568 | 1395/1917 | 465/638 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| MEIOSIN_chr19_45728439_45769541 | 45761789 | A | ATCCAGCT others(11): Show |
disruptive_inframe_insertion | MODERATE | HG04115.hp1 | a0015 | a0015c0019 | a0015c0019t0001 | a0015c0019t0001g0172 | 1 | 360 | 0.0028 | 18 | c.137 others(27): Show |
p.Ser others(13): Show |
MEIOSIN | ENSG00000237452.3 | transcript | ENST00000457052.3 | protein_coding | 12/15 | 1623/2568 | 1395/1917 | 465/638 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| MEX3C_chr18_51169550_51202681 | 51197099 | T | TGCCGGG | disruptive_inframe_insertion | MODERATE | HG00408.hp1 HG02129.hp2 HG02523.hp1 others(10): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0005a0003c0004t0001g0148a0003c0004t0001g0149 | 13 | 376 | 0.0346 | 6 | c.216 others(13): Show |
p.Ala others(17): Show |
MEX3C | ENSG00000176624.12 | transcript | ENST00000406189.4 | protein_coding | 1/2 | 582/4142 | 221/1980 | 74/659 | chr18 | TogoVar | ||
| MICAL3_chr22_17782649_18029561 | 17831912 | T | TTCC | disruptive_inframe_insertion | MODERATE | HG03041.hp1 HG03209.hp2 HG03471.hp1 others(1): Show |
a0011a0021 | a0011c0017a0021c0054 | a0011c0017t0002a0011c0017t0006a0011c0017t0009others(1): Show | a0011c0017t0002g0246a0011c0017t0006g0011a0011c0017t0009g0010others(1): Show | 4 | 274 | 0.0146 | 3 | c.299 others(12): Show |
p.Glu others(6): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 21/32 | 3351/9447 | 2996/6009 | 999/2002 | chr22 | TogoVar | ||
| MIDEAS_chr14_73710122_73765303 | 73739238 | C | CTGCTGCT others(2): Show |
disruptive_inframe_insertion | MODERATE | HG01928.hp1 HG01943.hp1 HG01981.hp1 others(2): Show |
a0005 | a0005c0011 | a0005c0011t0007a0005c0011t0010a0005c0011t0017others(1): Show | a0005c0011t0007g0039a0005c0011t0010g0026a0005c0011t0010g0050others(2): Show | 5 | 352 | 0.0142 | 9 | c.762 others(16): Show |
p.Gln others(22): Show |
MIDEAS | ENSG00000156030.14 | transcript | ENST00000423556.7 | protein_coding | 2/13 | 1558/7809 | 770/3300 | 257/1099 | chr14 | TogoVar | ||
| MINK1_chr17_4828340_4903061 | 4887670 | A | ACAGCAGC others(8): Show |
disruptive_inframe_insertion | MODERATE | NA19090.hp1 | a0007 | a0007c0024 | a0007c0024t0006 | a0007c0024t0006g0330 | 1 | 360 | 0.0028 | 15 | c.112 others(24): Show |
p.Leu others(13): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 12/32 | 1383/5017 | 1139/3999 | 380/1332 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| MLC1_chr22_50054391_50090426 | 50064040 | A | AGCACCCC others(26): Show |
disruptive_inframe_insertion | MODERATE | HG00673.hp1 HG01358.hp1 HG02004.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0165a0002c0002t0007g0166a0002c0002t0007g0167others(1): Show | 4 | 212 | 0.0189 | 33 | c.105 others(42): Show |
p.Ala others(46): Show |
MLC1 | ENSG00000100427.16 | transcript | ENST00000311597.10 | protein_coding | 11/12 | 1183/3457 | 1052/1134 | 351/377 | chr22 | TogoVar | ||
| MLLT10_chr10_21529232_21748630 | 21673635 | C | CTACAGCA others(5): Show |
disruptive_inframe_insertion | MODERATE | HG02148.hp2 | a0006 | a0006c0005 | a0006c0005t0003 | a0006c0005t0003g0175 | 1 | 192 | 0.0052 | 12 | c.134 others(21): Show |
p.Thr others(13): Show |
MLLT10 | ENSG00000078403.17 | transcript | ENST00000307729.12 | protein_coding | 11/23 | 1641/5143 | 1352/3207 | 451/1068 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| MLLT3_chr9_20336669_20627499 | 20414312 | A | ACTGCTG | disruptive_inframe_insertion | MODERATE | HG01123.hp2 HG02083.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0036a0003c0004t0001g0066 | 2 | 186 | 0.0108 | 6 | c.528 others(13): Show |
p.Ser others(13): Show |
MLLT3 | ENSG00000171843.17 | transcript | ENST00000380338.9 | protein_coding | 5/11 | 776/6724 | 533/1707 | 178/568 | chr9 | TogoVar | ||
| MLLT3_chr9_20336669_20627499 | 20414345 | A | ACTG | disruptive_inframe_insertion | MODERATE | HG01981.hp2 HG02109.hp1 HG03579.hp2 |
a0002 | a0002c0005a0002c0008 | a0002c0005t0005a0002c0005t0007a0002c0008t0034 | a0002c0005t0005g0123a0002c0005t0007g0158a0002c0008t0034g0004 | 3 | 186 | 0.0161 | 3 | c.498 others(10): Show |
p.Ser others(6): Show |
MLLT3 | ENSG00000171843.17 | transcript | ENST00000380338.9 | protein_coding | 5/11 | 743/6724 | 500/1707 | 167/568 | chr9 | TogoVar | ||
| MMP14_chr14_22831585_22852758 | 22843265 | A | ATCTTCCT others(8): Show |
disruptive_inframe_insertion | MODERATE | NA18972.hp2 | a0007 | a0007c0020 | a0007c0020t0001 | a0007c0020t0001g0068 | 1 | 466 | 0.0022 | 15 | c.699 others(22): Show |
p.Val others(28): Show |
MMP14 | ENSG00000157227.14 | transcript | ENST00000311852.11 | protein_coding | 5/10 | 947/3701 | 714/1749 | 238/582 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
| MMP17_chr12_131823393_131856771 | 131828553 | G | GGCTGCCG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(360): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0007others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(50): Show | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0029others(305): Show | 363 | 398 | 0.9121 | 9 | c.62_ others(14): Show |
p.Leu others(11): Show |
MMP17 | ENSG00000198598.7 | transcript | ENST00000360564.5 | protein_coding | 1/10 | 173/2411 | 71/1812 | 24/603 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| MMP17_chr12_131823393_131856771 | 131828558 | C | CCGCTGCT others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00639.hp2 HG01515.hp1 HG01943.hp1 others(17): Show |
a0006a0011a0018 | a0006c0008a0006c0041a0011c0021others(1): Show | a0006c0008t0001a0006c0008t0002a0006c0041t0003others(2): Show | a0006c0008t0001g0274a0006c0008t0001g0276a0006c0008t0002g0004others(12): Show | 20 | 398 | 0.0503 | 9 | c.70_ others(14): Show |
p.Leu others(20): Show |
MMP17 | ENSG00000198598.7 | transcript | ENST00000360564.5 | protein_coding | 1/10 | 173/2411 | 71/1812 | 24/603 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| MMP24OS_chr20_35271352_35283122 | 35277855 | A | AGGCTGG | disruptive_inframe_insertion | MODERATE | HG00609.hp1 HG00621.hp1 HG00621.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0013a0003c0003t0020 | a0003c0003t0001g0009a0003c0003t0013g0018a0003c0003t0020g0019 | 10 | 374 | 0.0267 | 6 | c.69_ others(11): Show |
p.Pro others(17): Show |
MMP24OS | ENSG00000126005.17 | transcript | ENST00000456790.2 | protein_coding | 2/2 | 191/1695 | 74/216 | 25/71 | chr20 | TogoVar | ||
| MN1_chr22_27743277_27806756 | 27798924 | T | TTGC | disruptive_inframe_insertion | MODERATE | HG01243.hp2 HG01496.hp2 HG01884.hp1 others(12): Show |
a0002 | a0002c0003a0002c0020 | a0002c0003t0009a0002c0003t0014a0002c0003t0015others(5): Show | a0002c0003t0009g0022a0002c0003t0009g0031a0002c0003t0014g0021others(12): Show | 15 | 394 | 0.0381 | 3 | c.161 others(12): Show |
p.Gln others(6): Show |
MN1 | ENSG00000169184.7 | transcript | ENST00000302326.5 | protein_coding | 1/2 | 2832/7814 | 1619/3963 | 540/1320 | chr22 | TogoVar | ||
| MN1_chr22_27743277_27806756 | 27798945 | T | TTGC | disruptive_inframe_insertion | MODERATE | HG00438.hp2 HG00621.hp1 HG00642.hp2 others(32): Show |
a0002a0009 | a0002c0002a0002c0006a0009c0022 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0252a0002c0002t0001g0254a0002c0002t0001g0259others(30): Show | 35 | 394 | 0.0888 | 3 | c.159 others(12): Show |
p.Gln others(6): Show |
MN1 | ENSG00000169184.7 | transcript | ENST00000302326.5 | protein_coding | 1/2 | 2811/7814 | 1598/3963 | 533/1320 | chr22 | TogoVar | ||
| MNX1_chr7_156999854_157015663 | 157009949 | A | AGCGGCG | disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(267): Show |
a0001 | a0001c0001a0001c0005a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(42): Show | 270 | 432 | 0.6250 | 6 | c.396 others(13): Show |
p.Ala others(13): Show |
MNX1 | ENSG00000130675.15 | transcript | ENST00000252971.11 | protein_coding | 1/3 | 714/2185 | 401/1206 | 134/401 | chr7 | TogoVar | ||
| MNX1_chr7_156999854_157015663 | 157009949 | A | AGCGGCGG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00438.hp2 HG00544.hp1 HG00544.hp2 others(62): Show |
a0003 | a0003c0002a0003c0009a0003c0010 | a0003c0002t0001a0003c0002t0002a0003c0002t0003others(4): Show | a0003c0002t0001g0005a0003c0002t0001g0006a0003c0002t0001g0007others(24): Show | 65 | 432 | 0.1505 | 9 | c.393 others(16): Show |
p.Ala others(13): Show |
MNX1 | ENSG00000130675.15 | transcript | ENST00000252971.11 | protein_coding | 1/3 | 714/2185 | 401/1206 | 134/401 | chr7 | TogoVar | ||
| MNX1_chr7_156999854_157015663 | 157009949 | A | AGCGGCGG others(5): Show |
disruptive_inframe_insertion | MODERATE | HG03471.hp2 HG03486.hp1 |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0040a0004c0007t0001g0041 | 2 | 432 | 0.0046 | 12 | c.390 others(19): Show |
p.Ala others(13): Show |
MNX1 | ENSG00000130675.15 | transcript | ENST00000252971.11 | protein_coding | 1/3 | 714/2185 | 401/1206 | 134/401 | chr7 | TogoVar | ||
| MNX1_chr7_156999854_157015663 | 157009949 | A | AGCGGCGG others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02922.hp1 HG02976.hp2 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0038a0005c0006t0001g0039 | 2 | 432 | 0.0046 | 15 | c.387 others(22): Show |
p.Ala others(13): Show |
MNX1 | ENSG00000130675.15 | transcript | ENST00000252971.11 | protein_coding | 1/3 | 714/2185 | 401/1206 | 134/401 | chr7 | TogoVar | ||
| MNX1_chr7_156999854_157015663 | 157009973 | G | GGCGGCGG others(5): Show |
disruptive_inframe_insertion | MODERATE | HG02683.hp1 HG03017.hp1 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0033 | 2 | 432 | 0.0046 | 12 | c.377 others(19): Show |
p.Ala others(13): Show |
MNX1 | ENSG00000130675.15 | transcript | ENST00000252971.11 | protein_coding | 1/3 | 690/2185 | 377/1206 | 126/401 | chr7 | TogoVar | ||
| MSH3_chr5_80649652_80881815 | 80654908 | G | GCAGCGCC others(11): Show |
disruptive_inframe_insertion | MODERATE | HG03139.hp1 NA18906.hp2 |
a0031a0039 | a0031c0032a0039c0045 | a0031c0032t0004a0039c0045t0005 | a0031c0032t0004g0020a0039c0045t0005g0028 | 2 | 362 | 0.0055 | 18 | c.186 others(25): Show |
p.Ala others(29): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 1/24 | 280/4443 | 204/3414 | 68/1137 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| MSH3_chr5_80649652_80881815 | 80654908 | G | GCAGCGCC others(20): Show |
disruptive_inframe_insertion | MODERATE | HG00741.hp2 | a0032 | a0032c0031 | a0032c0031t0005 | a0032c0031t0005g0022 | 1 | 362 | 0.0028 | 27 | c.203 others(34): Show |
p.Ala others(38): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 1/24 | 280/4443 | 204/3414 | 68/1137 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| MTMR1_chrX_150688396_150770108 | 150693540 | C | CCGG | disruptive_inframe_insertion | MODERATE | HG02280.hp1 | a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0190 | 1 | 270 | 0.0037 | 3 | c.29_ others(8): Show |
p.Ala others(5): Show |
MTMR1 | ENSG00000063601.17 | transcript | ENST00000445323.7 | protein_coding | 1/16 | 167/4536 | 32/2022 | 11/673 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | NA18989.hp1 | a0171 | a0171c0136 | a0171c0136t0001 | a0171c0136t0001g0183 | 1 | 342 | 0.0029 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG03225.hp2 | a0170 | a0170c0137 | a0170c0137t0001 | a0170c0137t0001g0035 | 1 | 342 | 0.0029 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | NA18971.hp1 | a0087 | a0087c0138 | a0087c0138t0001 | a0087c0138t0001g0282 | 1 | 342 | 0.0029 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG03516.hp2 | a0168 | a0168c0139 | a0168c0139t0001 | a0168c0139t0001g0131 | 1 | 342 | 0.0029 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG04228.hp2 | a0091 | a0091c0140 | a0091c0140t0001 | a0091c0140t0001g0275 | 1 | 342 | 0.0029 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | NA18978.hp2 | a0092 | a0092c0141 | a0092c0141t0001 | a0092c0141t0001g0249 | 1 | 342 | 0.0029 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG01257.hp1 | a0093 | a0093c0142 | a0093c0142t0001 | a0093c0142t0001g0094 | 1 | 342 | 0.0029 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(126): Show |
a0001a0008a0009others(99): Show | a0001c0001a0001c0168a0001c0181others(104): Show | a0001c0001t0001a0001c0168t0001a0001c0181t0001others(104): Show | a0001c0001t0001g0004a0001c0001t0001g0019a0001c0001t0001g0197others(120): Show | 129 | 342 | 0.3772 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp1 HG02027.hp2 NA18948.hp2 others(1): Show |
a0088a0089a0090others(1): Show | a0088c0225a0089c0224a0090c0223others(1): Show | a0088c0225t0001a0089c0224t0001a0090c0223t0001others(1): Show | a0088c0225t0001g0008a0089c0224t0001g0068a0090c0223t0001g0070others(1): Show | 4 | 342 | 0.0117 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | NA18954.hp1 | a0148 | a0148c0226 | a0148c0226t0001 | a0148c0226t0001g0244 | 1 | 342 | 0.0029 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG00639.hp2 HG01074.hp2 others(1): Show |
a0011a0045a0046 | a0011c0009a0045c0044a0046c0045 | a0011c0009t0001a0045c0044t0001a0046c0045t0001 | a0011c0009t0001g0137a0011c0009t0001g0139a0045c0044t0001g0140others(1): Show | 4 | 342 | 0.0117 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100993044 | T | TAGTAGCC others(1067): Show |
disruptive_inframe_insertion | MODERATE | HG01168.hp2 | a0044 | a0044c0042 | a0044c0042t0001 | a0044c0042t0001g0138 | 1 | 342 | 0.0029 | 1074 | c.256 others(1083): Show |
p.Ser others(1087): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 2622/16366 | 2564/16008 | 855/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100997802 | T | TCAACCAG others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp2 | a0272 | a0272c0041 | a0272c0041t0001 | a0272c0041t0001g0213 | 1 | 342 | 0.0029 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): 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 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG02735.hp2 | a0113 | a0113c0158 | a0113c0158t0001 | a0113c0158t0001g0241 | 1 | 342 | 0.0029 | 3885 | c.728 others(3894): Show |
p.Thr others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7345/16366 | 7287/16008 | 2429/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | NA18995.hp2 | a0078 | a0078c0235 | a0078c0235t0001 | a0078c0235t0001g0001 | 1 | 342 | 0.0029 | 1827 | c.728 others(1836): Show |
p.Thr others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7345/16366 | 7287/16008 | 2429/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG01099.hp1 HG01192.hp1 HG01433.hp1 others(3): Show |
a0017a0054a0064others(2): Show | a0017c0034a0054c0266a0064c0234others(2): Show | a0017c0034t0001a0054c0266t0001a0064c0234t0001others(2): Show | a0017c0034t0001g0002a0017c0034t0001g0049a0054c0266t0001g0001others(3): Show | 6 | 342 | 0.0175 | 1827 | c.728 others(1836): Show |
p.Thr others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7345/16366 | 7287/16008 | 2429/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG04184.hp1 NA20752.hp1 |
a0076a0077a0082 | a0076c0239a0077c0238a0082c0233 | a0076c0239t0001a0077c0238t0001a0082c0233t0001 | a0076c0239t0001g0186a0077c0238t0001g0176a0082c0233t0001g0226 | 3 | 342 | 0.0088 | 1827 | c.728 others(1836): Show |
p.Thr others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7345/16366 | 7287/16008 | 2429/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | NA18983.hp2 | a0063 | a0063c0253 | a0063c0253t0001 | a0063c0253t0001g0001 | 1 | 342 | 0.0029 | 1827 | c.728 others(1836): Show |
p.Thr others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7345/16366 | 7287/16008 | 2429/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG00558.hp2 HG01123.hp2 HG01168.hp1 others(34): Show |
a0002a0003a0006others(15): Show | a0002c0004a0002c0007a0002c0245others(21): Show | a0002c0004t0001a0002c0007t0001a0002c0245t0001others(22): Show | a0002c0004t0001g0001a0002c0004t0001g0046a0002c0004t0001g0054others(32): Show | 37 | 342 | 0.1082 | 1827 | c.728 others(1836): Show |
p.Thr others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7345/16366 | 7287/16008 | 2429/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG01109.hp2 HG02559.hp1 HG02717.hp2 others(6): Show |
a0033a0182a0183others(5): Show | a0033c0011a0182c0063a0183c0062others(5): Show | a0033c0011t0001a0182c0063t0001a0183c0062t0001others(5): Show | a0033c0011t0001g0149a0033c0011t0001g0151a0182c0063t0001g0161others(6): Show | 9 | 342 | 0.0263 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): 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 | 100997804 | A | AACCAGGC others(1820): Show |
disruptive_inframe_insertion | MODERATE | HG04199.hp2 | a0181 | a0181c0066 | a0181c0066t0001 | a0181c0066t0001g0162 | 1 | 342 | 0.0029 | 1827 | c.726 others(1836): Show |
p.Ala others(1842): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |