| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MUC5AC_chr11_1152953_1206138 | 1182909 | CGATGGCA others(1112): Show |
C | disruptive_inframe_deletion | MODERATE | HG00673.hp1 HG01891.hp2 HG02109.hp2 others(1): Show |
a0017a0028a0056 | a0017c0040a0017c0041a0028c0082others(1): Show | a0017c0040t0003a0017c0041t0002a0028c0082t0003others(1): Show | a0017c0040t0003g0228a0017c0041t0002g0226a0028c0082t0003g0045others(1): Show | 4 | 292 | 0.0137 | -1119 | c.504 others(9): Show |
p.Leu others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 5095/17448 | 5048/16965 | 1683/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1185937 | GCTGTTCC others(185): Show |
G | disruptive_inframe_deletion | MODERATE | HG01109.hp2 | a0065 | a0065c0066 | a0065c0066t0001 | a0065c0066t0001g0039 | 1 | 292 | 0.0034 | -192 | c.780 others(9): Show |
p.Thr others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 7847/17448 | 7800/16965 | 2600/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1188258 | GACCAGCA others(17): Show |
G | disruptive_inframe_deletion | MODERATE | HG02809.hp2 | a0042 | a0042c0091 | a0042c0091t0002 | a0042c0091t0002g0085 | 1 | 292 | 0.0034 | -24 | c.101 others(35): Show |
p.Thr others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 10181/17448 | 10134/16965 | 3378/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1190500 | CCCAGCAC others(17): Show |
C | disruptive_inframe_deletion | 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 | -24 | c.123 others(35): Show |
p.Thr others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 12434/17448 | 12387/16965 | 4129/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1190886 | CAGCACAA others(185): Show |
C | disruptive_inframe_deletion | MODERATE | HG01891.hp2 HG02109.hp2 HG02922.hp1 |
a0017a0028 | a0017c0040a0017c0041a0028c0082 | a0017c0040t0003a0017c0041t0002a0028c0082t0003 | a0017c0040t0003g0228a0017c0041t0002g0226a0028c0082t0003g0045 | 3 | 292 | 0.0103 | -192 | c.127 others(11): Show |
p.Ser others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 12818/17448 | 12771/16965 | 4257/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1191316 | ACCAGAAC others(17): Show |
A | disruptive_inframe_deletion | MODERATE | HG02698.hp1 | a0054 | a0054c0096 | a0054c0096t0001 | a0054c0096t0001g0112 | 1 | 292 | 0.0034 | -24 | c.131 others(35): Show |
p.Arg others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 13223/17448 | 13176/16965 | 4392/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1191628 | ACCAGCAC others(17): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00733.hp2 others(11): Show |
a0009a0010a0016others(6): Show | a0009c0020a0010c0019a0016c0029others(6): Show | a0009c0020t0002a0010c0019t0002a0016c0029t0002others(6): Show | a0009c0020t0002g0008a0010c0019t0002g0007a0016c0029t0002g0017others(7): Show | 14 | 292 | 0.0480 | -24 | c.134 others(35): Show |
p.Ala 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 | 1243036 | AACTACCA others(1664): Show |
A | disruptive_inframe_deletion | MODERATE | HG04228.hp2 | a0058 | a0058c0108 | a0058c0108t0001 | a0058c0108t0001g0012 | 1 | 350 | 0.0029 | -1671 | c.621 others(9): Show |
p.Leu others(15): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 6270/17911 | 6212/17289 | 2071/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5B_chr11_1218066_1267172 | 1248676 | AACACCCT others(17): Show |
A | disruptive_inframe_deletion | MODERATE | NA18974.hp1 | a0092 | a0092c0080 | a0092c0080t0001 | a0092c0080t0001g0062 | 1 | 350 | 0.0029 | -24 | c.117 others(35): Show |
p.Thr others(15): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 11856/17911 | 11798/17289 | 3933/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5B_chr11_1218066_1267172 | 1249988 | GCCA | G | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(30): Show |
a0004a0010a0024others(10): Show | a0004c0011a0004c0012a0004c0140others(15): Show | a0004c0011t0001a0004c0012t0001a0004c0140t0001others(15): Show | a0004c0011t0001g0005a0004c0011t0001g0044a0004c0011t0001g0046others(19): Show | 33 | 350 | 0.0943 | -3 | c.131 others(14): Show |
p.Thr others(7): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 13171/17911 | 13113/17289 | 4371/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5B_chr11_1218066_1267172 | 1250099 | CCCACGGC others(80): Show |
C | disruptive_inframe_deletion | MODERATE | HG03130.hp1 | a0046 | a0046c0111 | a0046c0111t0003 | a0046c0111t0003g0173 | 1 | 350 | 0.0029 | -87 | c.132 others(98): Show |
p.Leu others(15): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 13329/17911 | 13271/17289 | 4424/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5B_chr11_1218066_1267172 | 1250739 | GCACAACC others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG03130.hp1 | a0046 | a0046c0111 | a0046c0111t0003 | a0046c0111t0003g0173 | 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 | 13941/17911 | 13883/17289 | 4628/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC7_chr4_70467197_70487997 | 70481421 | CATCTTCC others(62): Show |
C | disruptive_inframe_deletion | MODERATE | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(66): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0004a0003c0003t0002g0006a0003c0003t0002g0022others(6): Show | 69 | 436 | 0.1583 | -69 | c.710 others(76): Show |
p.Ala others(13): Show |
MUC7 | ENSG00000171195.11 | transcript | ENST00000304887.6 | protein_coding | 3/3 | 820/2363 | 710/1134 | 237/377 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
| MUC7_chr4_70467197_70487997 | 70481495 | TCCTCAGC others(62): Show |
T | disruptive_inframe_deletion | MODERATE | HG01891.hp1 HG02258.hp2 HG02630.hp1 others(2): Show |
a0006a0007 | a0006c0005a0007c0006 | a0006c0005t0010a0007c0006t0012 | a0006c0005t0010g0019a0006c0005t0010g0029a0007c0006t0012g0018 | 5 | 436 | 0.0115 | -69 | c.779 others(76): Show |
p.Val others(13): Show |
MUC7 | ENSG00000171195.11 | transcript | ENST00000304887.6 | protein_coding | 3/3 | 889/2363 | 779/1134 | 260/377 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
| MUCL1_chr12_54849516_54863387 | 54856819 | AACCACTG others(17): Show |
A | disruptive_inframe_deletion | MODERATE | HG00738.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0011 | 1 | 430 | 0.0023 | -24 | c.165 others(31): Show |
p.Ala others(11): Show |
MUCL1 | ENSG00000172551.12 | transcript | ENST00000308796.11 | protein_coding | 3/4 | 232/485 | 165/273 | 55/90 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| MUCL3_chr6_30935973_30959221 | 30949583 | CACACCAT others(50): Show |
C | disruptive_inframe_deletion | MODERATE | HG02896.hp2 NA18942.hp1 NA18945.hp2 others(16): Show |
a0006 | a0006c0006 | a0006c0006t0003a0006c0006t0006a0006c0006t0014others(1): Show | a0006c0006t0003g0006a0006c0006t0003g0030a0006c0006t0003g0095others(5): Show | 19 | 441 | 0.0431 | -57 | c.116 others(66): Show |
p.Ala others(13): Show |
MUCL3 | ENSG00000168631.14 | transcript | ENST00000462446.6 | protein_coding | 2/3 | 1188/5313 | 1161/4182 | 387/1393 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| MVP_chr16_29815462_29853021 | 29840263 | TGCTGCTG others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01261.hp1 | a0013 | a0013c0011 | a0013c0011t0002 | a0013c0011t0002g0014 | 1 | 230 | 0.0044 | -12 | c.996 others(20): Show |
p.Leu others(13): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 8/15 | 1080/2798 | 996/2682 | 332/893 | chr16 | TogoVar | ||
| MYH7B_chr20_34950868_35007437 | 34997397 | CGAGGGCT others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG02886.hp2 | a0017 | a0017c0049 | a0017c0049t0002 | a0017c0049t0002g0030 | 1 | 338 | 0.0030 | -18 | c.350 others(27): Show |
p.Gly others(15): Show |
MYH7B | ENSG00000078814.19 | transcript | ENST00000262873.13 | protein_coding | 32/45 | 3985/6551 | 3509/5826 | 1170/1941 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
| MYLK_chr3_123605049_123889332 | 123618766 | ATCT | A | disruptive_inframe_deletion others(1): Show |
MODERATE | HG00408.hp1 HG00408.hp2 |
a0022a0034 | a0022c0036a0034c0057 | a0022c0036t0001a0034c0057t0001 | a0022c0036t0001g0095a0034c0057t0001g0060 | 2 | 156 | 0.0128 | -3 | c.537 others(12): Show |
p.Glu others(7): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 33/34 | 5684/10113 | 5370/5745 | 1790/1914 | chr3 | TogoVar | ||
| MYO15B_chr17_75582800_75631849 | 75589192 | TGGCTGCG others(11): Show |
T | disruptive_inframe_deletion | MODERATE | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(40): Show |
a0003a0015a0050others(2): Show | a0003c0008a0003c0024a0003c0025others(29): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(29): Show | a0003c0008t0002g0045a0003c0008t0002g0063a0003c0008t0002g0066others(38): Show | 43 | 384 | 0.1120 | -18 | c.115 others(27): Show |
p.Leu others(13): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 1409/9914 | 1151/9291 | 384/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| MYO15B_chr17_75582800_75631849 | 75589372 | GACGAGGG others(47): Show |
G | disruptive_inframe_deletion | MODERATE | HG00639.hp1 HG00741.hp1 HG01070.hp1 others(14): Show |
a0005a0029a0056others(4): Show | a0005c0010a0005c0011a0029c0138others(6): Show | a0005c0010t0001a0005c0011t0001a0029c0138t0001others(6): Show | a0005c0010t0001g0018a0005c0010t0001g0182a0005c0010t0001g0196others(14): Show | 17 | 384 | 0.0443 | -54 | c.132 others(63): Show |
p.Arg others(13): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 1581/9914 | 1323/9291 | 441/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| MYT1L_chr2_1784113_2336275 | 1942998 | TTCCTCC | T | disruptive_inframe_deletion | MODERATE | HG03098.hp2 HG03209.hp2 |
a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0043a0002c0011t0001g0078 | 2 | 104 | 0.0192 | -6 | c.483 others(13): Show |
p.Glu others(13): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 9/25 | 1317/7144 | 483/3561 | 161/1186 | chr2 | TogoVar | ||
| MYT1_chr20_64159452_64247253 | 64208000 | AGAG | A | disruptive_inframe_deletion | MODERATE | HG02258.hp2 HG04184.hp1 |
a0003 | a0003c0010 | a0003c0010t0001a0003c0010t0003 | a0003c0010t0001g0029a0003c0010t0003g0098 | 2 | 223 | 0.0090 | -3 | c.819 others(10): Show |
p.Glu others(6): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 7/23 | 1205/5557 | 819/3366 | 273/1121 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
| NACAD_chr7_45075437_45093969 | 45083858 | CGAGAGAT others(473): Show |
C | disruptive_inframe_deletion | MODERATE | HG02602.hp1 | a0055 | a0055c0043 | a0055c0043t0001 | a0055c0043t0001g0040 | 1 | 410 | 0.0024 | -480 | c.184 others(9): Show |
p.Ser others(13): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 2/8 | 2396/4836 | 1842/4689 | 614/1562 | chr7 | TogoVar | ||
| NACAD_chr7_45075437_45093969 | 45084098 | CGAGAGAT others(233): Show |
C | disruptive_inframe_deletion | MODERATE | HG02486.hp1 HG02559.hp2 HG02622.hp2 others(5): Show |
a0010a0017 | a0010c0011a0017c0021 | a0010c0011t0001a0017c0021t0001 | a0010c0011t0001g0010a0017c0021t0001g0022 | 8 | 410 | 0.0195 | -240 | c.184 others(9): Show |
p.Ser others(13): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 2/8 | 2156/4836 | 1842/4689 | 614/1562 | chr7 | TogoVar | ||
| NACAD_chr7_45075437_45093969 | 45084104 | ATCTGTGT others(113): Show |
A | disruptive_inframe_deletion | MODERATE | HG02970.hp2 HG06807.hp1 |
a0023a0029 | a0023c0027a0029c0053 | a0023c0027t0002a0029c0053t0001 | a0023c0027t0002g0078a0029c0053t0001g0081 | 2 | 410 | 0.0049 | -120 | c.195 others(9): Show |
p.Glu others(13): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 2/8 | 2150/4836 | 1956/4689 | 652/1562 | chr7 | TogoVar | ||
| NACAD_chr7_45075437_45093969 | 45084138 | GCGGAGTC others(113): Show |
G | disruptive_inframe_deletion | MODERATE | HG02698.hp1 HG03516.hp2 |
a0038a0045 | a0038c0040a0045c0056 | a0038c0040t0001a0045c0056t0001 | a0038c0040t0001g0102a0045c0056t0001g0056 | 2 | 410 | 0.0049 | -120 | c.192 others(9): Show |
p.Val others(13): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 2/8 | 2116/4836 | 1922/4689 | 641/1562 | chr7 | TogoVar | ||
| NACAD_chr7_45075437_45093969 | 45084218 | CGAGAGTT others(113): Show |
C | disruptive_inframe_deletion | MODERATE | HG02572.hp1 NA18992.hp1 |
a0044a0056 | a0044c0041a0056c0044 | a0044c0041t0001a0056c0044t0001 | a0044c0041t0001g0103a0056c0044t0001g0034 | 2 | 410 | 0.0049 | -120 | c.184 others(9): Show |
p.Ser others(13): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 2/8 | 2036/4836 | 1842/4689 | 614/1562 | chr7 | TogoVar | ||
| NACAD_chr7_45075437_45093969 | 45084224 | TTCTGTGT others(113): Show |
T | disruptive_inframe_deletion | MODERATE | NA18960.hp2 NA18978.hp1 |
a0018 | a0018c0019 | a0018c0019t0001 | a0018c0019t0001g0020 | 2 | 410 | 0.0049 | -120 | c.183 others(9): Show |
p.Asp others(13): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 2/8 | 2030/4836 | 1836/4689 | 612/1562 | chr7 | TogoVar | ||
| NACAD_chr7_45075437_45093969 | 45084258 | ACGGAGTC others(113): Show |
A | disruptive_inframe_deletion | MODERATE | HG01517.hp2 | a0053 | a0053c0066 | a0053c0066t0001 | a0053c0066t0001g0067 | 1 | 410 | 0.0024 | -120 | c.180 others(9): Show |
p.Ala others(13): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 2/8 | 1996/4836 | 1802/4689 | 601/1562 | chr7 | TogoVar | ||
| NACA_chr12_56707427_56730299 | 56717696 | TAGACCTC others(131): Show |
T | disruptive_inframe_deletion | MODERATE | HG01891.hp2 HG02056.hp2 HG02257.hp1 others(10): Show |
a0003a0027 | a0003c0004a0027c0051 | a0003c0004t0001a0027c0051t0001 | a0003c0004t0001g0006a0003c0004t0001g0015a0003c0004t0001g0093others(2): Show | 13 | 366 | 0.0355 | -138 | c.369 others(9): Show |
p.Ala others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3872/6387 | 3696/6237 | 1232/2078 | chr12 | TogoVar | ||
| NACA_chr12_56707427_56730299 | 56717735 | AGTGGGGG others(62): Show |
A | disruptive_inframe_deletion | MODERATE | HG00323.hp2 HG01891.hp1 HG01978.hp2 others(15): Show |
a0004a0011a0024others(2): Show | a0004c0006a0004c0010a0011c0014others(3): Show | a0004c0006t0001a0004c0010t0001a0011c0014t0001others(3): Show | a0004c0006t0001g0010a0004c0006t0001g0035a0004c0006t0001g0036others(7): Show | 18 | 366 | 0.0492 | -69 | c.372 others(78): Show |
p.Thr others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3833/6387 | 3726/6237 | 1242/2078 | chr12 | TogoVar | ||
| NACA_chr12_56707427_56730299 | 56717735 | AGTGGGGG others(131): Show |
A | disruptive_inframe_deletion | MODERATE | HG02258.hp2 | a0026 | a0026c0052 | a0026c0052t0001 | a0026c0052t0001g0051 | 1 | 366 | 0.0027 | -138 | c.365 others(9): Show |
p.Thr others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3833/6387 | 3657/6237 | 1219/2078 | chr12 | TogoVar | ||
| NACA_chr12_56707427_56730299 | 56717768 | GCCTCCTT others(62): Show |
G | disruptive_inframe_deletion | MODERATE | HG01167.hp1 HG01169.hp1 |
a0018 | a0018c0016 | a0018c0016t0001 | a0018c0016t0001g0031 | 2 | 366 | 0.0055 | -69 | c.369 others(78): Show |
p.Leu others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3800/6387 | 3693/6237 | 1231/2078 | chr12 | TogoVar | ||
| NACA_chr12_56707427_56730299 | 56717768 | GCCTCCTT others(131): Show |
G | disruptive_inframe_deletion | MODERATE | HG03130.hp1 | a0023 | a0023c0056 | a0023c0056t0001 | a0023c0056t0001g0064 | 1 | 366 | 0.0027 | -138 | c.362 others(9): Show |
p.Leu others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3800/6387 | 3624/6237 | 1208/2078 | chr12 | TogoVar | ||
| NACA_chr12_56707427_56730299 | 56717834 | CAGACCTC others(62): Show |
C | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG01123.hp2 HG01433.hp2 others(14): Show |
a0005a0021a0031others(2): Show | a0005c0003a0021c0022a0031c0027others(2): Show | a0005c0003t0001a0021c0022t0001a0031c0027t0001others(2): Show | a0005c0003t0001g0005a0005c0003t0001g0012a0021c0022t0001g0029others(3): Show | 17 | 366 | 0.0465 | -69 | c.362 others(78): Show |
p.Ala others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3734/6387 | 3627/6237 | 1209/2078 | chr12 | TogoVar | ||
| NACA_chr12_56707427_56730299 | 56718027 | GGGGGTGG others(131): Show |
G | disruptive_inframe_deletion | MODERATE | HG02056.hp1 | a0037 | a0037c0030 | a0037c0030t0001 | a0037c0030t0001g0076 | 1 | 366 | 0.0027 | -138 | c.336 others(9): Show |
p.His others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3541/6387 | 3365/6237 | 1122/2078 | chr12 | TogoVar | ||
| NACA_chr12_56707427_56730299 | 56718096 | GGGGGTGG others(62): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(186): Show |
a0001a0008a0009others(16): Show | a0001c0001a0001c0017a0001c0029others(19): Show | a0001c0001t0001a0001c0017t0001a0001c0029t0001others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(39): Show | 189 | 366 | 0.5164 | -69 | c.336 others(78): Show |
p.His others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3472/6387 | 3365/6237 | 1122/2078 | chr12 | TogoVar | ||
| NACA_chr12_56707427_56730299 | 56718542 | GGGGGAGG others(131): Show |
G | disruptive_inframe_deletion | MODERATE | HG00558.hp1 | a0044 | a0044c0047 | a0044c0047t0001 | a0044c0047t0001g0058 | 1 | 366 | 0.0027 | -138 | c.285 others(9): Show |
p.Lys others(13): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 3/9 | 3026/6387 | 2850/6237 | 950/2078 | chr12 | TogoVar | ||
| NACC2_chr9_136001537_136100289 | 136050054 | CGCGGCG | C | disruptive_inframe_deletion | MODERATE | HG01175.hp2 HG01361.hp1 HG01433.hp1 others(2): Show |
a0004a0008 | a0004c0021a0004c0031a0004c0033others(1): Show | a0004c0021t0002a0004c0031t0001a0004c0033t0004others(1): Show | a0004c0021t0002g0281a0004c0021t0002g0327a0004c0031t0001g0305others(2): Show | 5 | 348 | 0.0144 | -6 | c.462 others(13): Show |
p.Ala others(13): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/6 | 627/6903 | 462/1764 | 154/587 | chr9 | TogoVar | ||
| NADK_chr1_1746232_1783470 | 1752908 | CCCT | C | disruptive_inframe_deletion | MODERATE | HG00323.hp1 HG02258.hp1 HG02895.hp2 others(3): Show |
a0005 | a0005c0009a0005c0010 | a0005c0009t0005a0005c0009t0007a0005c0010t0007others(1): Show | a0005c0009t0005g0199a0005c0009t0007g0165a0005c0009t0007g0197others(3): Show | 6 | 414 | 0.0145 | -3 | c.133 others(12): Show |
p.Glu others(6): Show |
NADK | ENSG00000008130.15 | transcript | ENST00000341426.9 | protein_coding | 12/12 | 1558/3235 | 1334/1341 | 445/446 | chr1 | TogoVar | ||
| NALF1_chr13_107158510_107872496 | 107866367 | CGCTGCTG others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG01358.hp1 HG03491.hp1 NA18747.hp2 others(6): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0006a0002c0003t0007others(4): Show | a0002c0003t0003g0123a0002c0003t0003g0124a0002c0003t0006g0118others(6): Show | 9 | 128 | 0.0703 | -12 | c.218 others(19): Show |
p.Gln others(11): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/3 | 1129/9264 | 218/1377 | 73/458 | chr13 | TogoVar | ||
| NANOS1_chr10_119024714_119038730 | 119030272 | TGCCGCCG others(26): Show |
T | disruptive_inframe_deletion | MODERATE | HG03654.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0000 | 1 | 404 | 0.0025 | -33 | c.482 others(40): Show |
p.Val others(13): Show |
NANOS1 | ENSG00000188613.7 | transcript | ENST00000425699.3 | protein_coding | 1/1 | 570/4017 | 482/879 | 161/292 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| NANOS1_chr10_119024714_119038730 | 119030378 | CCCCGGCT others(26): Show |
C | disruptive_inframe_deletion | MODERATE | NA18982.hp1 | a0006 | a0006c0012 | a0006c0012t0002 | a0006c0012t0002g0000 | 1 | 404 | 0.0025 | -33 | c.587 others(40): Show |
p.His others(13): Show |
NANOS1 | ENSG00000188613.7 | transcript | ENST00000425699.3 | protein_coding | 1/1 | 675/4017 | 587/879 | 196/292 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| NAP1L2_chrX_73207299_73219851 | 73213827 | GTCC | G | disruptive_inframe_deletion | MODERATE | HG02647.hp1 HG02723.hp2 HG03041.hp1 |
a0002 | a0002c0004a0002c0007 | a0002c0004t0001a0002c0007t0001 | a0002c0004t0001g0000a0002c0007t0001g0000 | 3 | 282 | 0.0106 | -3 | c.663 others(10): Show |
p.Glu others(6): Show |
NAP1L2 | ENSG00000186462.9 | transcript | ENST00000373517.4 | protein_coding | 1/1 | 1024/2553 | 663/1383 | 221/460 | chrX | TogoVar | ||
| NAP1L5_chr4_88690913_88702829 | 88697681 | TCCTCTGC others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01109.hp2 HG03688.hp1 |
a0002 | a0002c0004 | a0002c0004t0002a0002c0004t0005 | a0002c0004t0002g0000a0002c0004t0005g0000 | 2 | 414 | 0.0048 | -12 | c.62_ others(17): Show |
p.Ala others(11): Show |
NAP1L5 | ENSG00000177432.8 | transcript | ENST00000323061.7 | protein_coding | 1/1 | 148/1917 | 62/549 | 21/182 | chr4 | TogoVar | ||
| NBPF12_chr1_146933324_147001198 | 146994348 | ATGGAAG | A | disruptive_inframe_deletion | MODERATE | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
a0007a0014 | a0007c0049a0007c0050a0014c0048 | a0007c0049t0009a0007c0050t0017a0014c0048t0009 | a0007c0049t0009g0120a0007c0050t0017g0119a0014c0048t0009g0118 | 3 | 122 | 0.0246 | -6 | c.415 others(15): Show |
p.Val others(15): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 5592/7435 | 4154/4374 | 1385/1457 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| NBPF14_chr1_148526385_148601011 | 148541084 | ACTTCAGG others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG01255.hp2 | a0002 | a0002c0107 | a0002c0107t0001 | a0002c0107t0001g0125 | 1 | 222 | 0.0045 | -12 | c.751 others(21): Show |
p.Lys others(21): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 61/71 | 7714/10779 | 7511/8967 | 2504/2988 | chr1 | TogoVar | ||
| NBPF14_chr1_148526385_148601011 | 148548100 | CTCT | C | disruptive_inframe_deletion | MODERATE | HG01099.hp1 HG01109.hp2 |
a0003 | a0003c0032 | a0003c0032t0001 | a0003c0032t0001g0157a0003c0032t0001g0175 | 2 | 222 | 0.0090 | -3 | c.643 others(12): Show |
p.Glu others(7): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 52/71 | 6632/10779 | 6438/8967 | 2146/2988 | chr1 | TogoVar | ||
| NBPF19_chr1_149470045_149561361 | 149522906 | TGCAGGAC others(23): Show |
T | disruptive_inframe_deletion | MODERATE | HG00438.hp1 HG00558.hp1 NA18980.hp1 others(2): Show |
a0012a0140a0141 | a0012c0009a0140c0175a0141c0182 | a0012c0009t0001a0140c0175t0001a0141c0182t0001 | a0012c0009t0001g0050a0012c0009t0001g0172a0012c0009t0001g0195others(2): Show | 5 | 276 | 0.0181 | -30 | c.643 others(39): Show |
p.Leu others(21): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 54/94 | 7218/13941 | 6432/11532 | 2144/3843 | chr1 | TogoVar |