| 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 | 195787521 | T | TGCTGAGG others(281): Show |
disruptive_inframe_insertion | MODERATE | HG02717.hp1 | a0068 | a0068c0171 | a0068c0171t0005 | a0068c0171t0005g0229 | 1 | 249 | 0.0040 | 288 | c.405 others(297): Show |
p.Val others(303): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4170/16756 | 4058/16239 | 1353/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195788085 | C | CTGACCTG others(665): Show |
disruptive_inframe_insertion | MODERATE | HG03130.hp2 | a0067 | a0067c0194 | a0067c0194t0012 | a0067c0194t0012g0239 | 1 | 249 | 0.0040 | 672 | c.349 others(681): Show |
p.Gly others(687): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3606/16756 | 3494/16239 | 1165/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195788106 | A | AGTGTCGG others(713): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp2 HG02976.hp2 |
a0060a0062 | a0060c0199a0062c0197 | a0060c0199t0009a0062c0197t0009 | a0060c0199t0009g0224a0062c0197t0009g0243 | 2 | 249 | 0.0080 | 720 | c.347 others(729): Show |
p.Ala others(735): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3585/16756 | 3473/16239 | 1158/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195788109 | A | ATCGGTGA others(809): Show |
disruptive_inframe_insertion | MODERATE | HG02273.hp1 | a0113 | a0113c0047 | a0113c0047t0001 | a0113c0047t0001g0126 | 1 | 249 | 0.0040 | 816 | c.347 others(825): Show |
p.Asp others(831): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3582/16756 | 3470/16239 | 1157/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195788124 | A | ACGGGTGG others(41): Show |
disruptive_inframe_insertion | MODERATE | HG03688.hp2 HG03942.hp2 |
a0025 | a0025c0010 | a0025c0010t0001 | a0025c0010t0001g0078a0025c0010t0001g0141 | 2 | 249 | 0.0080 | 48 | c.345 others(57): Show |
p.Pro others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3567/16756 | 3455/16239 | 1152/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195788244 | T | TGAGGAAA others(185): Show |
disruptive_inframe_insertion | MODERATE | HG01975.hp1 | a0066 | a0066c0177 | a0066c0177t0004 | a0066c0177t0004g0226 | 1 | 249 | 0.0040 | 192 | c.333 others(201): Show |
p.Ser others(207): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3447/16756 | 3335/16239 | 1112/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195788469 | G | GTGACCTG others(89): Show |
disruptive_inframe_insertion | MODERATE | HG03130.hp1 | a0101 | a0101c0123 | a0101c0123t0001 | a0101c0123t0001g0183 | 1 | 249 | 0.0040 | 96 | c.311 others(105): Show |
p.His others(111): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3222/16756 | 3110/16239 | 1037/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195791241 | T | TGTCTCCT others(8): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(186): Show |
a0002a0004a0005others(148): Show | a0002c0002a0002c0098a0002c0099others(159): Show | a0002c0002t0001a0002c0098t0001a0002c0099t0001others(159): Show | a0002c0002t0001g0002a0002c0002t0001g0120a0002c0002t0001g0128others(185): Show | 189 | 249 | 0.7590 | 15 | c.338 others(22): Show |
p.Thr others(28): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 450/16756 | 338/16239 | 113/5412 | chr3 | TogoVar | ||
| MUC5AC_chr11_1152953_1206138 | 1182782 | C | CGGCAACA others(1112): Show |
disruptive_inframe_insertion | MODERATE | HG02809.hp2 | a0042 | a0042c0091 | a0042c0091t0002 | a0042c0091t0002g0085 | 1 | 292 | 0.0034 | 1119 | c.470 others(1128): Show |
p.Thr others(1134): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 4753/17448 | 4706/16965 | 1569/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1182807 | G | GACCACGG others(1112): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG01433.hp1 NA20805.hp1 |
a0016a0029 | a0016c0029a0029c0081 | a0016c0029t0002a0029c0081t0002 | a0016c0029t0002g0017a0016c0029t0002g0046a0029c0081t0002g0044 | 3 | 292 | 0.0103 | 1119 | c.470 others(1128): Show |
p.Thr others(1134): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 4753/17448 | 4706/16965 | 1569/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1184723 | G | GGAACCAG others(1112): Show |
disruptive_inframe_insertion | MODERATE | HG02818.hp1 HG02922.hp2 HG03139.hp2 others(1): Show |
a0010a0072 | a0010c0019a0072c0070 | a0010c0019t0002a0072c0070t0002 | a0010c0019t0002g0007a0072c0070t0002g0146 | 4 | 292 | 0.0137 | 1119 | c.665 others(1128): Show |
p.Pro others(1134): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 6700/17448 | 6653/16965 | 2218/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1184994 | A | AACAACCT others(185): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(131): Show |
a0002a0003a0005others(36): Show | a0002c0002a0002c0005a0002c0032others(58): Show | a0002c0002t0001a0002c0002t0004a0002c0005t0001others(59): Show | a0002c0002t0001g0003a0002c0002t0001g0005a0002c0002t0001g0010others(116): Show | 134 | 292 | 0.4589 | 192 | c.687 others(201): Show |
p.Thr others(207): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 6920/17448 | 6873/16965 | 2291/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1184994 | A | AACAACCT others(185): Show |
disruptive_inframe_insertion | MODERATE | HG01943.hp2 HG02451.hp2 |
a0025 | a0025c0033 | a0025c0033t0001 | a0025c0033t0001g0035a0025c0033t0001g0036 | 2 | 292 | 0.0069 | 192 | c.687 others(201): Show |
p.Thr others(207): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 6920/17448 | 6873/16965 | 2291/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1184994 | A | AACAACCT others(185): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00733.hp2 HG01099.hp2 others(10): Show |
a0009a0010a0016others(5): Show | a0009c0020a0010c0019a0016c0029others(5): Show | a0009c0020t0002a0010c0019t0002a0016c0029t0002others(5): Show | a0009c0020t0002g0008a0010c0019t0002g0007a0016c0029t0002g0017others(6): Show | 13 | 292 | 0.0445 | 192 | c.687 others(201): Show |
p.Thr others(207): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 6920/17448 | 6873/16965 | 2291/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1186164 | C | CACCAGCA others(17): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp2 HG00639.hp2 HG01516.hp1 others(3): Show |
a0006 | a0006c0009a0006c0065 | a0006c0009t0001a0006c0065t0001 | a0006c0009t0001g0150a0006c0009t0001g0151a0006c0009t0001g0153others(3): Show | 6 | 292 | 0.0206 | 24 | c.803 others(33): Show |
p.Thr others(39): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 8102/17448 | 8055/16965 | 2685/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1188533 | C | CCTCCACT others(743): Show |
disruptive_inframe_insertion | MODERATE | HG00733.hp2 | a0027 | a0027c0039 | a0027c0039t0002 | a0027c0039t0002g0047 | 1 | 292 | 0.0034 | 750 | c.105 others(761): Show |
p.Thr others(765): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 10555/17448 | 10508/16965 | 3503/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1188533 | C | CCTCCACT others(743): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG01099.hp2 HG01168.hp2 others(9): Show |
a0009a0010a0016others(4): Show | a0009c0020a0010c0019a0016c0029others(4): Show | a0009c0020t0002a0010c0019t0002a0016c0029t0002others(4): Show | a0009c0020t0002g0008a0010c0019t0002g0007a0016c0029t0002g0017others(5): Show | 12 | 292 | 0.0411 | 750 | c.105 others(761): Show |
p.Thr others(765): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 10555/17448 | 10508/16965 | 3503/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1190169 | G | GGAGGTGA others(2186): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp2 HG02132.hp2 HG02155.hp1 others(8): Show |
a0005a0046 | a0005c0008a0005c0022a0046c0111 | a0005c0008t0001a0005c0022t0001a0046c0111t0001 | a0005c0008t0001g0003a0005c0008t0001g0005a0005c0008t0001g0010others(6): Show | 11 | 292 | 0.0377 | 2193 | c.120 others(2204): Show |
p.Arg others(2208): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 12116/17448 | 12069/16965 | 4023/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1191564 | G | GACCTCTG others(65): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(132): Show |
a0002a0003a0005others(36): Show | a0002c0002a0002c0005a0002c0032others(58): Show | a0002c0002t0001a0002c0002t0004a0002c0005t0001others(59): Show | a0002c0002t0001g0003a0002c0002t0001g0005a0002c0002t0001g0010others(117): Show | 135 | 292 | 0.4623 | 72 | c.134 others(83): Show |
p.Gly others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 13546/17448 | 13499/16965 | 4500/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5B_chr11_1218066_1267172 | 1243636 | T | TTCCAGCC others(3764): Show |
disruptive_inframe_insertion | MODERATE | NA20129.hp2 | a0073 | a0073c0055 | a0073c0055t0001 | a0073c0055t0001g0174 | 1 | 350 | 0.0029 | 3771 | c.718 others(3780): Show |
p.Gly others(3786): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 7240/17911 | 7182/17289 | 2394/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5B_chr11_1218066_1267172 | 1244155 | G | GCCCTCCT others(419): Show |
disruptive_inframe_insertion | MODERATE | HG03130.hp1 | a0046 | a0046c0111 | a0046c0111t0003 | a0046c0111t0003g0173 | 1 | 350 | 0.0029 | 426 | c.728 others(435): Show |
p.Pro others(441): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 7348/17911 | 7290/17289 | 2430/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5B_chr11_1218066_1267172 | 1248002 | T | TCCACGGC others(419): Show |
disruptive_inframe_insertion | MODERATE | HG03130.hp1 | a0046 | a0046c0111 | a0046c0111t0003 | a0046c0111t0003g0173 | 1 | 350 | 0.0029 | 426 | c.111 others(437): Show |
p.Ala others(441): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 11190/17911 | 11132/17289 | 3711/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5B_chr11_1218066_1267172 | 1250739 | G | GCACAACC others(8): Show |
disruptive_inframe_insertion | MODERATE | NA19011.hp1 | a0154 | a0154c0186 | a0154c0186t0001 | a0154c0186t0001g0165 | 1 | 350 | 0.0029 | 15 | c.138 others(26): Show |
p.Thr others(15): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 13956/17911 | 13898/17289 | 4633/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5B_chr11_1218066_1267172 | 1251371 | G | GCCACTGG others(4760): Show |
disruptive_inframe_insertion | MODERATE | HG03130.hp1 | a0046 | a0046c0111 | a0046c0111t0003 | a0046c0111t0003g0173 | 1 | 350 | 0.0029 | 4767 | c.144 others(4778): Show |
p.Gly others(4782): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 14557/17911 | 14499/17289 | 4833/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5B_chr11_1218066_1267172 | 1251466 | T | TTCCACGG others(80): Show |
disruptive_inframe_insertion | MODERATE | HG03130.hp1 | a0046 | a0046c0111 | a0046c0111t0003 | a0046c0111t0003g0173 | 1 | 350 | 0.0029 | 87 | c.146 others(98): Show |
p.Thr others(102): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 14668/17911 | 14610/17289 | 4870/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC6_chr11_1007823_1041718 | 1017968 | T | TGTGGTGT others(10961): Show |
disruptive_inframe_insertion | MODERATE | HG01069.hp1 HG01071.hp2 |
a0025 | a0025c0050 | a0025c0050t0001 | a0025c0050t0001g0034 | 2 | 406 | 0.0049 | 10968 | c.483 others(10977): Show |
p.Thr others(10983): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4895/8016 | 4832/7320 | 1611/2439 | chr11 | TogoVar | ||
| MUC6_chr11_1007823_1041718 | 1017968 | T | TGTGGTGT others(10961): Show |
disruptive_inframe_insertion | MODERATE | HG06807.hp2 NA20805.hp2 |
a0025 | a0025c0049 | a0025c0049t0001 | a0025c0049t0001g0032 | 2 | 406 | 0.0049 | 10968 | c.483 others(10977): Show |
p.Thr others(10983): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4895/8016 | 4832/7320 | 1611/2439 | chr11 | TogoVar | ||
| MUCL3_chr6_30935973_30959221 | 30950970 | C | CCATCTCT others(119): Show |
stop_gained others(1): Show |
HIGH | HG03516.hp1 | a0017 | a0017c0021 | a0017c0021t0001 | a0017c0021t0001g0112 | 1 | 441 | 0.0023 | 126 | c.250 others(135): Show |
p.Gln others(138): Show |
MUCL3 | ENSG00000168631.14 | transcript | ENST00000462446.6 | protein_coding | 2/3 | 2534/5313 | 2507/4182 | 836/1393 | chr6 | TogoVar | ||
| MYO15B_chr17_75582800_75631849 | 75589192 | T | TGGCTGCG others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00423.hp1 HG00558.hp2 |
a0053a0092 | a0053c0208a0092c0118 | a0053c0208t0001a0092c0118t0001 | a0053c0208t0001g0002a0092c0118t0001g0292 | 2 | 384 | 0.0052 | 18 | c.115 others(27): Show |
p.Leu others(13): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 1427/9914 | 1169/9291 | 390/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| NACA_chr12_56707427_56730299 | 56718155 | T | TGCCCCTT others(62): Show |
disruptive_inframe_insertion | MODERATE | HG03098.hp2 | a0046 | a0046c0045 | a0046c0045t0001 | a0046c0045t0001g0041 | 1 | 366 | 0.0027 | 69 | c.330 others(78): Show |
p.Ala others(84): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3413/6387 | 3374/6237 | 1125/2078 | chr12 | TogoVar | ||
| NANOS3_chr19_13872134_13885757 | 13877367 | T | TGGAGCCG others(11): Show |
disruptive_inframe_insertion | MODERATE | HG01109.hp1 HG02109.hp1 HG02280.hp2 others(10): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0003 | a0002c0003t0001g0011a0002c0003t0003g0004 | 13 | 380 | 0.0342 | 18 | c.134 others(25): Show |
p.Ala others(29): Show |
NANOS3 | ENSG00000187556.8 | transcript | ENST00000339133.6 | protein_coding | 1/2 | 250/948 | 135/579 | 45/192 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| NANOS3_chr19_13872134_13885757 | 13877744 | C | CGAG | disruptive_inframe_insertion others(1): Show |
MODERATE | HG02145.hp1 HG02145.hp2 HG02559.hp1 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0005a0003c0004t0001g0012a0003c0004t0001g0024others(2): Show | 8 | 380 | 0.0211 | 3 | c.512 others(10): Show |
p.Gly others(6): Show |
NANOS3 | ENSG00000187556.8 | transcript | ENST00000339133.6 | protein_coding | 1/2 | 630/948 | 515/579 | 172/192 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| NAP1L2_chrX_73207299_73219851 | 73213827 | G | GTCC | disruptive_inframe_insertion | MODERATE | NA19086.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0000 | 1 | 282 | 0.0036 | 3 | c.663 others(10): Show |
p.Glu others(6): Show |
NAP1L2 | ENSG00000186462.9 | transcript | ENST00000373517.4 | protein_coding | 1/1 | 1024/2553 | 665/1383 | 222/460 | chrX | TogoVar | ||
| NAPSA_chr19_50353477_50370639 | 50358625 | G | GCCCACCC others(41): Show |
disruptive_inframe_insertion | MODERATE | HG00738.hp2 | a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0054 | 1 | 350 | 0.0029 | 48 | c.114 others(57): Show |
p.Gly others(61): Show |
NAPSA | ENSG00000131400.9 | transcript | ENST00000253719.7 | protein_coding | 9/9 | 1208/1357 | 1190/1263 | 397/420 | chr19 | TogoVar | ||
| NBEAL2_chr3_46974666_47014701 | 47002084 | T | TGCAGCTG others(11): Show |
disruptive_inframe_insertion | MODERATE | NA18939.hp2 | a0023 | a0023c0036 | a0023c0036t0001 | a0023c0036t0001g0059 | 1 | 360 | 0.0028 | 18 | c.495 others(27): Show |
p.Ala others(15): Show |
NBEAL2 | ENSG00000160796.18 | transcript | ENST00000450053.8 | protein_coding | 31/54 | 5172/8842 | 4976/8265 | 1659/2754 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| NBPF10_chr1_146059711_146149804 | 146102753 | C | CTGCAAGA others(4724): Show |
stop_gained others(1): Show |
HIGH | HG02155.hp2 | a0031 | a0031c0185 | a0031c0185t0016 | a0031c0185t0016g0183 | 1 | 283 | 0.0035 | 4731 | c.555 others(4740): Show |
p.Gln others(4746): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 44/90 | 5593/13030 | 5558/11388 | 1853/3795 | chr1 | TogoVar | ||
| NBPF10_chr1_146059711_146149804 | 146107471 | C | CTGCAAGA others(4724): Show |
stop_gained others(1): Show |
HIGH | HG01074.hp1 | a0034 | a0034c0181 | a0034c0181t0008 | a0034c0181t0008g0216 | 1 | 283 | 0.0035 | 4731 | c.482 others(4740): Show |
p.Gln others(4746): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 38/90 | 4861/13030 | 4826/11388 | 1609/3795 | chr1 | TogoVar | ||
| NBPF10_chr1_146059711_146149804 | 146110657 | T | TTTCTCAT others(37799): Show |
stop_gained others(1): Show |
HIGH | HG02280.hp2 | a0009 | a0009c0046 | a0009c0046t0001 | a0009c0046t0001g0084 | 1 | 283 | 0.0035 | 37806 | c.430 others(37815): Show |
p.Glu others(37821): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 34/90 | 4336/13030 | 4301/11388 | 1434/3795 | chr1 | TogoVar | ||
| NBPF10_chr1_146059711_146149804 | 146110657 | T | TTTCTCAT others(28337): Show |
stop_gained others(1): Show |
HIGH | HG01943.hp2 | a0005 | a0005c0072 | a0005c0072t0001 | a0005c0072t0001g0073 | 1 | 283 | 0.0035 | 28344 | c.430 others(28353): Show |
p.Glu others(28359): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 34/90 | 4336/13030 | 4301/11388 | 1434/3795 | chr1 | TogoVar | ||
| NBPF12_chr1_146933324_147001198 | 146984940 | T | TACGTATT others(2): Show |
disruptive_inframe_insertion | MODERATE | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
a0002a0009a0010others(5): Show | a0002c0002a0002c0006a0002c0034others(8): Show | a0002c0002t0003a0002c0002t0013a0002c0002t0024others(10): Show | a0002c0002t0003g0003a0002c0002t0003g0010a0002c0002t0003g0011others(27): Show | 30 | 122 | 0.2459 | 9 | c.279 others(18): Show |
p.Leu others(22): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/37 | 4243/7435 | 2805/4374 | 935/1457 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| NBPF14_chr1_148526385_148601011 | 148539513 | C | CGAATAAC others(1535): Show |
stop_gained others(1): Show |
HIGH | HG02451.hp1 | a0107 | a0107c0041 | a0107c0041t0023 | a0107c0041t0023g0003 | 1 | 222 | 0.0045 | 1542 | c.777 others(1551): Show |
p.Ser others(1557): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 63/71 | 7970/10779 | 7778/8967 | 2593/2988 | chr1 | TogoVar | ||
| NBPF19_chr1_149470045_149561361 | 149538593 | C | CTATGCTA others(28559): Show |
stop_gained others(1): Show |
HIGH | HG00735.hp1 | a0164 | a0164c0201 | a0164c0201t0004 | a0164c0201t0004g0205 | 1 | 276 | 0.0036 | 28566 | c.893 others(28575): Show |
p.Ser others(28581): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 74/94 | 9723/13941 | 8937/11532 | 2979/3843 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| NCOA1_chr2_24486254_24775702 | 24758059 | G | GGAAAAGA others(35): Show |
stop_gained others(1): Show |
HIGH | NA19006.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0149 | 1 | 314 | 0.0032 | 42 | c.396 others(51): Show |
p.Gly others(57): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 21/23 | 4713/7381 | 3969/4326 | 1323/1441 | chr2 | TogoVar | ||
| NCOA3_chr20_47496887_47661872 | 47651092 | A | ACAG | disruptive_inframe_insertion | MODERATE | HG02257.hp1 HG02622.hp2 NA18944.hp2 |
a0006 | a0006c0012 | a0006c0012t0005a0006c0012t0015 | a0006c0012t0005g0316a0006c0012t0015g0041a0006c0012t0015g0042 | 3 | 316 | 0.0095 | 3 | c.378 others(12): Show |
p.Gln others(7): Show |
NCOA3 | ENSG00000124151.19 | transcript | ENST00000371998.8 | protein_coding | 20/23 | 4023/7961 | 3792/4275 | 1264/1424 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
| NCOA3_chr20_47496887_47661872 | 47651092 | A | ACAGCAG | disruptive_inframe_insertion | MODERATE | HG02622.hp1 NA19006.hp1 NA19043.hp2 others(1): Show |
a0008 | a0008c0014a0008c0017 | a0008c0014t0010a0008c0017t0013 | a0008c0014t0010g0219a0008c0014t0010g0241a0008c0017t0013g0045others(1): Show | 4 | 316 | 0.0127 | 6 | c.378 others(15): Show |
p.Gln others(15): Show |
NCOA3 | ENSG00000124151.19 | transcript | ENST00000371998.8 | protein_coding | 20/23 | 4023/7961 | 3792/4275 | 1264/1424 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
| NCOA3_chr20_47496887_47661872 | 47651116 | G | GCAA | disruptive_inframe_insertion | MODERATE | HG01943.hp1 HG01981.hp2 HG02273.hp2 others(5): Show |
a0006a0012a0015 | a0006c0009a0012c0020a0015c0026 | a0006c0009t0002a0006c0009t0040a0012c0020t0002others(1): Show | a0006c0009t0002g0120a0006c0009t0002g0122a0006c0009t0002g0124others(5): Show | 8 | 316 | 0.0253 | 3 | c.378 others(12): Show |
p.Gln others(7): Show |
NCOA3 | ENSG00000124151.19 | transcript | ENST00000371998.8 | protein_coding | 20/23 | 4020/7961 | 3789/4275 | 1263/1424 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
| NCSTN_chr1_160338383_160363949 | 160357151 | T | TGGTGCAG others(5): Show |
disruptive_inframe_insertion | MODERATE | NA19072.hp1 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0007 | 1 | 448 | 0.0022 | 12 | c.190 others(21): Show |
p.Phe others(25): Show |
NCSTN | ENSG00000162736.18 | transcript | ENST00000294785.10 | protein_coding | 16/17 | 1921/2822 | 1907/2130 | 636/709 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| NDRG1_chr8_133232175_133302252 | 133238956 | C | CCCCTCGC others(23): Show |
disruptive_inframe_insertion | MODERATE | HG02572.hp1 HG03195.hp2 |
a0003a0005 | a0003c0006a0005c0009 | a0003c0006t0005a0005c0009t0005 | a0003c0006t0005g0095a0005c0009t0005g0282 | 2 | 378 | 0.0053 | 30 | c.107 others(39): Show |
p.Gly others(43): Show |
NDRG1 | ENSG00000104419.17 | transcript | ENST00000323851.13 | protein_coding | 16/16 | 1243/3025 | 1106/1185 | 369/394 | chr8 | TogoVar | ||
| NEFH_chr22_29475218_29496390 | 29489138 | G | GAAACAA | disruptive_inframe_insertion | MODERATE | HG03209.hp2 HG03540.hp1 HG06807.hp1 |
a0009 | a0009c0013 | a0009c0013t0002 | a0009c0013t0002g0062a0009c0013t0002g0145 | 3 | 448 | 0.0067 | 6 | c.150 others(15): Show |
p.Lys others(19): Show |
NEFH | ENSG00000100285.10 | transcript | ENST00000310624.7 | protein_coding | 4/4 | 1551/3795 | 1506/3063 | 502/1020 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
| NEFH_chr22_29475218_29496390 | 29489578 | A | AAAGTCCC others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(333): Show |
a0001a0004a0006others(5): Show | a0001c0001a0001c0005a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(137): Show | 336 | 448 | 0.7500 | 18 | c.194 others(27): Show |
p.Pro others(31): Show |
NEFH | ENSG00000100285.10 | transcript | ENST00000310624.7 | protein_coding | 4/4 | 2010/3795 | 1965/3063 | 655/1020 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |