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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC4_chr3_195741771_195816929 | 195783358 | TC | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00621.hp2 others(19): Show |
a0007a0015a0016others(14): Show | a0007c0007a0015c0023a0016c0024others(14): Show | a0007c0007t0003a0015c0023t0003a0016c0024t0003others(14): Show | a0007c0007t0003g0152a0007c0007t0003g0154a0007c0007t0003g0209others(19): Show | 22 | 249 | 0.0884 | -1 | c.822 others(5): Show |
p.Glu others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8333/16756 | 8221/16239 | 2741/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195783428 | TGTCACCT others(111): Show |
T | frameshift_variant | HIGH | NA18955.hp1 | a0064 | a0064c0195 | a0064c0195t0003 | a0064c0195t0003g0207 | 1 | 249 | 0.0040 | -118 | c.803 others(9): Show |
p.Ser others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8263/16756 | 8034/16239 | 2678/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195783502 | TCGGTGAC others(328): Show |
T | frameshift_variant | HIGH | NA19074.hp2 | a0047 | a0047c0161 | a0047c0161t0002 | a0047c0161t0002g0043 | 1 | 249 | 0.0040 | -335 | c.774 others(9): Show |
p.Ser others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8189/16756 | 7743/16239 | 2581/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195783564 | A | AGGGATGG others(90): Show |
frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG01978.hp2 HG03710.hp1 |
a0053a0117a0171 | a0053c0144a0117c0079a0171c0111 | a0053c0144t0001a0117c0079t0001a0171c0111t0001 | a0053c0144t0001g0008a0117c0079t0001g0157a0171c0111t0001g0051 | 3 | 249 | 0.0121 | 97 | c.801 others(106): Show |
p.Leu others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8127/16756 | 8015/16239 | 2672/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195783719 | C | CCTGTGGA others(39): Show |
frameshift_variant | HIGH | HG03579.hp1 | a0104 | a0104c0030 | a0104c0030t0005 | a0104c0030t0005g0232 | 1 | 249 | 0.0040 | 46 | c.786 others(55): Show |
p.Asp others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7972/16756 | 7860/16239 | 2620/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195783847 | G | GGAAGAGC others(1242): Show |
frameshift_variant others(1): Show |
HIGH | HG03688.hp1 | a0081 | a0081c0189 | a0081c0189t0011 | a0081c0189t0011g0206 | 1 | 249 | 0.0040 | 1249 | c.773 others(1258): Show |
p.Pro others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7844/16756 | 7732/16239 | 2578/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195784541 | T | TGGATACT others(280): Show |
frameshift_variant | HIGH | NA18988.hp1 | a0160 | a0160c0064 | a0160c0064t0001 | a0160c0064t0001g0151 | 1 | 249 | 0.0040 | 287 | c.703 others(296): Show |
p.Thr others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7150/16756 | 7038/16239 | 2346/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195784727 | C | CCTGTGGA others(40): Show |
frameshift_variant | HIGH | NA18955.hp1 | a0064 | a0064c0195 | a0064c0195t0003 | a0064c0195t0003g0207 | 1 | 249 | 0.0040 | 47 | c.685 others(56): Show |
p.Asp others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6964/16756 | 6852/16239 | 2284/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195785783 | C | CCTGTGGA others(39): Show |
frameshift_variant | HIGH | HG02615.hp1 | a0079 | a0079c0192 | a0079c0192t0004 | a0079c0192t0004g0242 | 1 | 249 | 0.0040 | 46 | c.579 others(55): Show |
p.Asp others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5908/16756 | 5796/16239 | 1932/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195785927 | C | CCTGTGGA others(87): Show |
frameshift_variant | HIGH | HG03041.hp2 NA19043.hp1 |
a0014 | a0014c0022 | a0014c0022t0004 | a0014c0022t0004g0245a0014c0022t0004g0246 | 2 | 249 | 0.0080 | 94 | c.565 others(103): Show |
p.Asp others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5764/16756 | 5652/16239 | 1884/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195786511 | G | GATGCTGA others(138): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 | a0156 | a0156c0106 | a0156c0106t0001 | a0156c0106t0001g0144 | 1 | 249 | 0.0040 | 145 | c.506 others(154): Show |
p.Thr others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5180/16756 | 5068/16239 | 1690/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787559 | C | CACCTGTG others(138): Show |
frameshift_variant others(1): Show |
HIGH | NA18946.hp1 | a0136 | a0136c0113 | a0136c0113t0011 | a0136c0113t0011g0088 | 1 | 249 | 0.0040 | 145 | c.402 others(154): Show |
p.Asp others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4132/16756 | 4020/16239 | 1340/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2296): Show |
frameshift_variant | HIGH | NA18974.hp2 | a0186 | a0186c0128 | a0186c0128t0001 | a0186c0128t0001g0170 | 1 | 249 | 0.0040 | 2303 | c.390 others(2312): Show |
p.Ser others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2298): Show |
frameshift_variant others(1): Show |
HIGH | NA18988.hp1 | a0160 | a0160c0064 | a0160c0064t0001 | a0160c0064t0001g0151 | 1 | 249 | 0.0040 | 2305 | c.390 others(2314): Show |
p.Ser others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2298): Show |
frameshift_variant others(1): Show |
HIGH | NA19055.hp2 | a0106 | a0106c0040 | a0106c0040t0001 | a0106c0040t0001g0160 | 1 | 249 | 0.0040 | 2305 | c.390 others(2314): Show |
p.Ser others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2299): Show |
frameshift_variant others(1): Show |
HIGH | NA18955.hp2 | a0163 | a0163c0061 | a0163c0061t0001 | a0163c0061t0001g0161 | 1 | 249 | 0.0040 | 2306 | c.381 others(2315): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2298): Show |
frameshift_variant others(1): Show |
HIGH | HG00438.hp1 | a0117 | a0117c0079 | a0117c0079t0001 | a0117c0079t0001g0157 | 1 | 249 | 0.0040 | 2305 | c.381 others(2314): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2298): Show |
frameshift_variant others(1): Show |
HIGH | NA18988.hp1 | a0160 | a0160c0064 | a0160c0064t0001 | a0160c0064t0001g0151 | 1 | 249 | 0.0040 | 2305 | c.381 others(2314): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2586): Show |
frameshift_variant others(1): Show |
HIGH | HG03239.hp1 | a0020 | a0020c0067 | a0020c0067t0001 | a0020c0067t0001g0090 | 1 | 249 | 0.0040 | 2593 | c.381 others(2602): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2586): Show |
frameshift_variant others(1): Show |
HIGH | NA19003.hp1 | a0020 | a0020c0062 | a0020c0062t0001 | a0020c0062t0001g0147 | 1 | 249 | 0.0040 | 2593 | c.381 others(2602): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2586): Show |
frameshift_variant others(1): Show |
HIGH | HG02132.hp1 HG03704.hp2 |
a0008 | a0008c0086a0008c0087 | a0008c0086t0001a0008c0087t0001 | a0008c0086t0001g0163a0008c0087t0001g0127 | 2 | 249 | 0.0080 | 2593 | c.381 others(2602): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2586): Show |
frameshift_variant others(1): Show |
HIGH | NA19090.hp2 | a0008 | a0008c0115 | a0008c0115t0001 | a0008c0115t0001g0106 | 1 | 249 | 0.0040 | 2593 | c.381 others(2602): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2682): Show |
frameshift_variant others(1): Show |
HIGH | HG01978.hp2 | a0171 | a0171c0111 | a0171c0111t0001 | a0171c0111t0001g0051 | 1 | 249 | 0.0040 | 2689 | c.381 others(2698): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2538): Show |
frameshift_variant others(1): Show |
HIGH | NA19090.hp1 | a0130 | a0130c0125 | a0130c0125t0001 | a0130c0125t0001g0065 | 1 | 249 | 0.0040 | 2545 | c.381 others(2554): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2346): Show |
frameshift_variant | HIGH | NA19011.hp1 | a0124 | a0124c0080 | a0124c0080t0001 | a0124c0080t0001g0201 | 1 | 249 | 0.0040 | 2353 | c.381 others(2362): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195788110 | T | TCGGTGAC others(762): Show |
frameshift_variant others(1): Show |
HIGH | NA18974.hp2 | a0186 | a0186c0128 | a0186c0128t0001 | a0186c0128t0001g0170 | 1 | 249 | 0.0040 | 769 | c.346 others(778): Show |
p.Asp others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3581/16756 | 3469/16239 | 1157/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195788132 | T | TGTCACCT others(474): Show |
frameshift_variant others(1): Show |
HIGH | NA18977.hp2 | a0185 | a0185c0029 | a0185c0029t0001 | a0185c0029t0001g0155 | 1 | 249 | 0.0040 | 481 | c.344 others(490): Show |
p.Thr others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3559/16756 | 3447/16239 | 1149/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195788228 | T | TGTGACCT others(3690): Show |
frameshift_variant others(1): Show |
HIGH | NA18985.hp2 | a0112 | a0112c0046 | a0112c0046t0001 | a0112c0046t0001g0175 | 1 | 249 | 0.0040 | 3697 | c.335 others(3706): Show |
p.Thr others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3463/16756 | 3351/16239 | 1117/5412 | chr3 | TogoVar | ||
MUC5B_chr11_1218066_1267172 | 1245031 | AGTGCTGA others(79): Show |
A | frameshift_variant | HIGH | HG03130.hp1 | a0046 | a0046c0111 | a0046c0111t0003 | a0046c0111t0003g0173 | 1 | 350 | 0.0029 | -86 | c.815 others(95): Show |
p.Val others(6): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 8210/17911 | 8152/17289 | 2718/5762 | chr11 | TogoVar | ||
MUC5B_chr11_1218066_1267172 | 1247131 | AGTGCTGA others(79): Show |
A | frameshift_variant | HIGH | HG03130.hp1 | a0046 | a0046c0111 | a0046c0111t0003 | a0046c0111t0003g0173 | 1 | 350 | 0.0029 | -86 | c.102 others(97): Show |
p.Val others(6): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 10310/17911 | 10252/17289 | 3418/5762 | chr11 | TogoVar | ||
MUC5B_chr11_1218066_1267172 | 1248802 | AGTGCTGA others(79): Show |
A | frameshift_variant | HIGH | HG03130.hp1 | a0046 | a0046c0111 | a0046c0111t0003 | a0046c0111t0003g0173 | 1 | 350 | 0.0029 | -86 | c.119 others(97): Show |
p.Val others(6): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 11981/17911 | 11923/17289 | 3975/5762 | chr11 | TogoVar | ||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(9279): Show |
frameshift_variant | HIGH | NA18985.hp2 | a0161 | a0161c0170 | a0161c0170t0001 | a0161c0170t0001g0260 | 1 | 406 | 0.0025 | 9286 | c.481 others(9295): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(10963): Show |
frameshift_variant others(1): Show |
HIGH | NA18989.hp1 | a0146 | a0146c0122 | a0146c0122t0001 | a0146c0122t0001g0119 | 1 | 406 | 0.0025 | 10970 | c.481 others(10979): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(12700): Show |
frameshift_variant others(1): Show |
HIGH | NA18949.hp2 | a0144 | a0144c0123 | a0144c0123t0001 | a0144c0123t0001g0114 | 1 | 406 | 0.0025 | 12707 | c.481 others(12716): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(10960): Show |
frameshift_variant others(1): Show |
HIGH | NA19076.hp1 | a0131 | a0131c0120 | a0131c0120t0001 | a0131c0120t0001g0126 | 1 | 406 | 0.0025 | 10967 | c.481 others(10976): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(10452): Show |
frameshift_variant others(1): Show |
HIGH | NA19086.hp1 | a0125 | a0125c0144 | a0125c0144t0001 | a0125c0144t0001g0154 | 1 | 406 | 0.0025 | 10459 | c.481 others(10468): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(8776): Show |
frameshift_variant others(1): Show |
HIGH | NA19076.hp2 | a0071 | a0071c0100 | a0071c0100t0002 | a0071c0100t0002g0254 | 1 | 406 | 0.0025 | 8783 | c.481 others(8792): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(8773): Show |
frameshift_variant others(1): Show |
HIGH | NA19086.hp2 | a0072 | a0072c0099 | a0072c0099t0006 | a0072c0099t0006g0061 | 1 | 406 | 0.0025 | 8780 | c.481 others(8789): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(9277): Show |
frameshift_variant others(1): Show |
HIGH | NA18956.hp2 | a0129 | a0129c0167 | a0129c0167t0001 | a0129c0167t0001g0177 | 1 | 406 | 0.0025 | 9284 | c.481 others(9293): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(9277): Show |
frameshift_variant others(1): Show |
HIGH | NA19082.hp1 | a0157 | a0157c0172 | a0157c0172t0001 | a0157c0172t0001g0096 | 1 | 406 | 0.0025 | 9284 | c.481 others(9293): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
MXRA5_chrX_3303565_3351652 | 3317498 | C | CG | frameshift_variant | HIGH | NA19054.hp1 | a0023 | a0023c0028 | a0023c0028t0001 | a0023c0028t0001g0232 | 1 | 284 | 0.0035 | 1 | c.618 others(5): Show |
p.Leu others(6): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 6/7 | 6348/9804 | 6182/8487 | 2061/2828 | chrX | TogoVar | ||
MXRA5_chrX_3303565_3351652 | 3343725 | T | TG | frameshift_variant | HIGH | NA19090.hp1 | a0016 | a0016c0045 | a0016c0045t0001 | a0016c0045t0001g0144 | 1 | 284 | 0.0035 | 1 | c.108 others(4): Show |
p.Ser others(4): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/7 | 274/9804 | 108/8487 | 36/2828 | chrX | TogoVar | ||
MXRA5_chrX_3303565_3351652 | 3343808 | G | GC | frameshift_variant | HIGH | NA18946.hp1 | a0034 | a0034c0047 | a0034c0047t0001 | a0034c0047t0001g0063 | 1 | 284 | 0.0035 | 1 | c.25d others(3): Show |
p.Ala others(3): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/7 | 191/9804 | 25/8487 | 9/2828 | chrX | TogoVar | ||
MYBPC3_chr11_47326406_47357702 | 47348472 | ACACCTCA others(4): Show |
A | frameshift_variant | HIGH | NA18981.hp1 | a0013 | a0013c0027 | a0013c0027t0001 | a0013c0027t0001g0271 | 1 | 374 | 0.0027 | -11 | c.713 others(18): Show |
p.Arg others(5): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 6/35 | 778/4217 | 713/3825 | 238/1274 | chr11 | TogoVar | ||
MYCT1_chr6_152692897_152729569 | 152697964 | GAGAT | G | frameshift_variant | HIGH | HG00558.hp2 HG00609.hp1 HG00673.hp1 others(48): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0003a0002c0002t0004a0002c0002t0009others(6): Show | a0002c0002t0003g0054a0002c0002t0004g0005a0002c0002t0004g0012others(22): Show | 51 | 444 | 0.1149 | -4 | c.66_ others(9): Show |
p.Asp others(4): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 1/2 | 72/3030 | 66/708 | 22/235 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
MYD88_chr3_38133661_38148022 | 38138849 | T | TGGCGGAG others(21): Show |
frameshift_variant others(1): Show |
HIGH | NA18972.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0001 | 1 | 408 | 0.0025 | 28 | c.151 others(35): Show |
p.Glu others(4): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1/5 | 219/2667 | 179/891 | 60/296 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
MYH14_chr19_50198622_50315540 | 50225654 | A | AAGAATGA others(9): Show |
frameshift_variant others(1): Show |
HIGH | NA18993.hp1 | a0024 | a0024c0052 | a0024c0052t0001 | a0024c0052t0001g0039 | 1 | 298 | 0.0034 | 16 | c.788 others(23): Show |
p.Arg others(5): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 7/43 | 857/6914 | 804/6111 | 268/2036 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
MYH6_chr14_23376987_23413273 | 23388918 | CTGGGCCA others(10): Show |
C | frameshift_variant | HIGH | NA18988.hp1 | a0029 | a0029c0052 | a0029c0052t0001 | a0029c0052t0001g0170 | 1 | 370 | 0.0027 | -17 | c.409 others(26): Show |
p.Asn others(6): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 29/39 | 4182/5940 | 4099/5820 | 1367/1939 | chr14 | TogoVar | ||
MYH7B_chr20_34950868_35007437 | 34997514 | G | GGCGGAGC others(10): Show |
frameshift_variant | HIGH | HG03834.hp2 | a0018 | a0018c0021 | a0018c0021t0001 | a0018c0021t0001g0024 | 1 | 338 | 0.0030 | 17 | c.362 others(26): Show |
p.Val others(6): Show |
MYH7B | ENSG00000078814.19 | transcript | ENST00000262873.13 | protein_coding | 32/45 | 4116/6551 | 3640/5826 | 1214/1941 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
MYH7B_chr20_34950868_35007437 | 35000809 | CTTGGCCC others(43): Show |
C | frameshift_variant | HIGH | NA18990.hp2 | a0024 | a0024c0022 | a0024c0022t0001 | a0024c0022t0001g0114 | 1 | 338 | 0.0030 | -50 | c.522 others(59): Show |
p.Leu others(6): Show |
MYH7B | ENSG00000078814.19 | transcript | ENST00000262873.13 | protein_coding | 40/45 | 5697/6551 | 5221/5826 | 1741/1941 | chr20 | TogoVar |