view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYOC_chr1_171630417_171657688 | 171639652 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00733.hp2 others(29): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0059 others(10): Show |
32 | 434 | 0.0737 | 7 | c.605 others(22): Show |
MYOC | ENSG00000034971.17 | transcript | ENST00000037502.11 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93317167 | A | ACAGTATC | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01123.hp1 others(39): Show |
a0001a0003a0005others(8): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(19): Show | a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0070 others(39): Show |
42 | 240 | 0.1750 | 7 | c.559 others(24): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 49/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93369110 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01106.hp1 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0018a0001c0056others(9): Show | a0001c0001t0005a0001c0018t0001a0001c0056t0001others(10): Show | a0001c0001t0005g0032 a0001c0018t0001g0031 a0001c0056t0001g0127 others(11): Show |
14 | 240 | 0.0583 | 7 | c.258 others(24): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 25/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93457996 | A | ACTTTGCC | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02976.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0016 | a0001c0001t0001a0001c0002t0001a0003c0016t0006 | a0001c0001t0001g0039 a0001c0002t0001g0007 a0001c0002t0001g0037 others(2): Show |
5 | 240 | 0.0208 | 7 | c.89- others(22): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | |||||||
MYOF_chr10_93301429_93487334 | 93465538 | C | CTTTTTTT | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(18): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(13): Show | a0001c0001t0001g0015 a0001c0001t0001g0073 a0001c0001t0001g0136 others(18): Show |
21 | 240 | 0.0875 | 7 | c.89- others(22): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 1/53 | chr10 | TogoVar | |||||||
MYOG_chr1_203078129_203091012 | 203088081 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(109): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0006a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(45): Show |
112 | 460 | 0.2435 | 7 | c.-21 others(18): Show |
MYOG | ENSG00000122180.5 | transcript | ENST00000241651.5 | protein_coding | 2070 | chr1 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3114544 | A | ATTTTTTT | intron_variant | MODIFIER | HG02559.hp1 HG02738.hp1 HG03831.hp2 others(8): Show |
a0001a0003a0004others(5): Show | a0001c0011a0003c0007a0003c0021others(8): Show | a0001c0011t0005a0003c0007t0006a0003c0021t0001others(8): Show | a0001c0011t0005g0300 a0003c0007t0006g0170 a0003c0021t0001g0168 others(8): Show |
11 | 330 | 0.0333 | 7 | c.330 others(26): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 21/37 | chr18 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2120675 | T | TATATATA | intron_variant | MODIFIER | HG01993.hp1 HG02071.hp1 HG02135.hp2 others(14): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0023a0002c0108others(13): Show | a0001c0002t0001a0001c0023t0001a0002c0108t0001others(14): Show | a0001c0002t0001g0324 a0001c0023t0001g0391 a0002c0108t0001g0072 others(14): Show |
17 | 403 | 0.0422 | 7 | c.345 others(26): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2134507 | C | CAGACTTG | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00673.hp1 others(92): Show |
a0001a0002a0003others(34): Show | a0001c0002a0001c0003a0001c0009others(62): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(64): Show | a0001c0002t0001g0220 a0001c0002t0001g0282 a0001c0002t0001g0303 others(92): Show |
95 | 403 | 0.2357 | 7 | c.380 others(26): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 32/36 | chr8 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2142744 | C | CCCTTCCT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(79): Show |
a0001a0002a0003others(26): Show | a0001c0002a0001c0003a0001c0022others(49): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(52): Show | a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0220 others(79): Show |
82 | 403 | 0.2035 | 7 | c.402 others(24): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOZ2_chr4_119130832_119192789 | 119147743 | C | CAAAAAAA | intron_variant | MODIFIER | HG01168.hp1 HG01978.hp1 HG02738.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0025 a0001c0001t0002g0085 a0001c0001t0002g0110 others(2): Show |
6 | 394 | 0.0152 | 7 | c.77- others(22): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MYOZ2_chr4_119130832_119192789 | 119152192 | T | TAAGAATC | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0137 a0001c0001t0003g0004 a0001c0001t0003g0029 others(60): Show |
72 | 394 | 0.1827 | 7 | c.246 others(24): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MYOZ3_chr5_150656251_150684368 | 150676543 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG02055.hp1 HG02071.hp1 others(27): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(1): Show | a0002c0002t0002g0110 a0002c0002t0002g0223 a0002c0002t0002g0225 others(19): Show |
30 | 394 | 0.0761 | 7 | c.588 others(22): Show |
MYOZ3 | ENSG00000164591.14 | transcript | ENST00000517768.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69877024 | T | TTTCTTTC | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00621.hp2 others(74): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0026others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(11): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 others(74): Show |
77 | 322 | 0.2391 | 7 | c.138 others(24): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69878242 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02055.hp1 others(5): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0003t0001a0002c0002t0001others(2): Show | a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0248 others(5): Show |
8 | 322 | 0.0248 | 7 | c.138 others(22): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRFL_chr12_69820227_69964097 | 69880951 | G | GTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01243.hp2 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0112 a0001c0001t0001g0126 a0001c0001t0001g0274 others(15): Show |
18 | 322 | 0.0559 | 7 | c.556 others(22): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 39852533 | A | ACCCCACT | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02896.hp1 others(7): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0008a0002c0012others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0008t0001others(3): Show | a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0003g0041 others(7): Show |
10 | 170 | 0.0588 | 7 | c.-31 others(26): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 39852538 | A | ACTCCCCC | intron_variant | MODIFIER | HG02630.hp1 HG03225.hp2 NA19240.hp1 others(1): Show |
a0001a0002 | a0001c0006a0001c0014a0002c0010 | a0001c0006t0006a0001c0014t0007a0002c0010t0004 | a0001c0006t0006g0088 a0001c0006t0006g0089 a0001c0014t0007g0090 others(1): Show |
4 | 170 | 0.0235 | 7 | c.-31 others(26): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40036324 | A | AAAAAAAC | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02109.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(3): Show | a0001c0001t0001g0125 a0001c0001t0003g0082 a0001c0002t0002g0001 others(6): Show |
9 | 170 | 0.0529 | 7 | c.111 others(24): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
MYRIP_chr3_39804609_40265321 | 40036324 | A | AACAAAAC | intron_variant | MODIFIER | HG01884.hp1 HG02040.hp2 HG02056.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0059 others(12): Show |
15 | 170 | 0.0882 | 7 | c.111 others(24): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
MYRIP_chr3_39804609_40265321 | 40107781 | A | ACTGACTG | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 NA19043.hp2 |
a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0080 a0002c0005t0004g0081 a0002c0005t0004g0083 |
3 | 170 | 0.0177 | 7 | c.333 others(26): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40204177 | T | TTATATAA | intron_variant | MODIFIER | HG02683.hp2 HG03688.hp2 |
a0005 | a0005c0013 | a0005c0013t0010 | a0005c0013t0010g0078 a0005c0013t0010g0133 |
2 | 170 | 0.0118 | 7 | c.166 others(26): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40245747 | A | ATTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01109.hp2 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0020a0002c0005others(3): Show | a0001c0001t0005a0001c0001t0012a0001c0020t0004others(4): Show | a0001c0001t0005g0068 a0001c0001t0012g0066 a0001c0020t0004g0140 others(10): Show |
13 | 170 | 0.0765 | 7 | c.226 others(26): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58703211 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01952.hp2 HG02074.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0231 others(6): Show |
9 | 410 | 0.0220 | 7 | c.-31 others(18): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 3150 | chr1 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1952916 | T | TACCTTTG | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02615.hp2 others(6): Show |
a0001 | a0001c0003a0001c0005a0001c0012others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(6): Show | a0001c0003t0001g0067 a0001c0003t0002g0017 a0001c0003t0003g0077 others(6): Show |
9 | 104 | 0.0865 | 7 | c.153 others(24): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 8/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2188891 | A | ATACGGCC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(100): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(64): Show | a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0032 others(100): Show |
103 | 104 | 0.9904 | 7 | c.-42 others(28): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64195401 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00735.hp1 others(26): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0040 others(26): Show |
29 | 223 | 0.1300 | 7 | c.1-3 others(20): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57654002 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00621.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0197 a0001c0001t0001g0207 others(17): Show |
21 | 352 | 0.0597 | 7 | c.112 others(26): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57687433 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(242): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0158 others(236): Show |
245 | 352 | 0.6960 | 7 | c.*29 others(18): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2070 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57687436 | T | TATATTAC | downstream_gene_variant | MODIFIER | HG01106.hp1 HG03239.hp1 NA21309.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0003 | a0001c0003t0002g0048 a0001c0003t0002g0065 a0001c0003t0003g0119 |
3 | 352 | 0.0085 | 7 | c.*29 others(18): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2073 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57687463 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(81): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0008 a0001c0001t0001g0158 a0001c0001t0001g0163 others(79): Show |
84 | 352 | 0.2386 | 7 | c.*29 others(18): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2100 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57688696 | A | ACAATGTG | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02717.hp1 HG02723.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0008a0002c0002t0002a0003c0005t0004 | a0001c0001t0008g0329 a0001c0001t0008g0332 a0002c0002t0002g0084 others(1): Show |
4 | 352 | 0.0114 | 7 | c.*41 others(18): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3333 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57688846 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02717.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0008a0002c0002t0002others(1): Show | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(5): Show |
8 | 352 | 0.0227 | 7 | c.*43 others(18): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3483 | chr15 | TogoVar | |||||||
MYZAP_chr15_57586904_57690364 | 57688879 | C | CATTCTAT | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02717.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0008a0002c0002t0002others(1): Show | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(5): Show |
8 | 352 | 0.0227 | 7 | c.*43 others(18): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3516 | chr15 | TogoVar | |||||||
N4BP1_chr16_48533726_48615180 | 48613914 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01070.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0004 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0045 others(10): Show |
13 | 324 | 0.0401 | 7 | c.-39 others(18): Show |
N4BP1 | ENSG00000102921.8 | transcript | ENST00000262384.4 | protein_coding | 3735 | chr16 | TogoVar | |||||||
N4BP2L2_chr13_32505292_32543795 | 32540970 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(97): Show |
a0001a0005a0008 | a0001c0001a0001c0006a0005c0012others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(72): Show |
100 | 394 | 0.2538 | 7 | c.-23 others(18): Show |
N4BP2L2 | ENSG00000244754.9 | transcript | ENST00000267068.6 | protein_coding | 2176 | chr13 | TogoVar | |||||||
N4BP2_chr4_40051850_40163252 | 40066445 | A | AGTACCTG | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0013 | a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0008g0241 others(3): Show |
6 | 366 | 0.0164 | 7 | c.-21 others(26): Show |
N4BP2 | ENSG00000078177.15 | transcript | ENST00000261435.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
N4BP2_chr4_40051850_40163252 | 40090952 | A | AAAGTTGT | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00639.hp1 others(73): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0018a0003c0003others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(27): Show | a0001c0001t0002g0308 a0001c0001t0002g0321 a0001c0001t0004g0042 others(72): Show |
76 | 366 | 0.2077 | 7 | c.-11 others(26): Show |
N4BP2 | ENSG00000078177.15 | transcript | ENST00000261435.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
N4BP2_chr4_40051850_40163252 | 40092007 | A | AAAATTAT | intron_variant | MODIFIER | HG01257.hp1 HG03239.hp2 HG04199.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0019others(1): Show | a0001c0001t0002g0295 a0001c0001t0002g0309 a0001c0001t0002g0314 others(3): Show |
6 | 366 | 0.0164 | 7 | c.-11 others(26): Show |
N4BP2 | ENSG00000078177.15 | transcript | ENST00000261435.11 | protein_coding | 2/17 | chr4 | TogoVar | |||||||
N4BP2_chr4_40051850_40163252 | 40092008 | T | TATATATA | intron_variant | MODIFIER | HG00544.hp1 HG02976.hp1 NA19030.hp1 others(1): Show |
a0002a0004a0006 | a0002c0002a0004c0004a0006c0006 | a0002c0002t0001a0004c0004t0053a0006c0006t0021 | a0002c0002t0001g0086 a0002c0002t0001g0088 a0004c0004t0053g0286 others(1): Show |
4 | 366 | 0.0109 | 7 | c.-11 others(26): Show |
N4BP2 | ENSG00000078177.15 | transcript | ENST00000261435.11 | protein_coding | 2/17 | chr4 | TogoVar | |||||||
N4BP2_chr4_40051850_40163252 | 40136379 | T | TATCTATC | intron_variant | MODIFIER | HG01257.hp1 HG01496.hp2 HG01884.hp2 others(34): Show |
a0001a0011 | a0001c0001a0011c0012 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(10): Show | a0001c0001t0002g0296 a0001c0001t0002g0309 a0001c0001t0002g0311 others(34): Show |
37 | 366 | 0.1011 | 7 | c.464 others(24): Show |
N4BP2 | ENSG00000078177.15 | transcript | ENST00000261435.11 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
N4BP3_chr5_178108532_178131081 | 178127921 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(93): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0020a0001c0021others(6): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0013others(17): Show | a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0009 others(36): Show |
96 | 436 | 0.2202 | 7 | c.*59 others(18): Show |
N4BP3 | ENSG00000145911.6 | transcript | ENST00000274605.6 | protein_coding | 1841 | chr5 | TogoVar | |||||||
N6AMT1_chr21_28867191_28890367 | 28877407 | A | AAGAAAAG | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(282): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(143): Show |
285 | 422 | 0.6754 | 7 | c.538 others(22): Show |
N6AMT1 | ENSG00000156239.12 | transcript | ENST00000303775.10 | protein_coding | 5/5 | chr21 | TogoVar | |||||||
NAA10_chrX_153924225_153940037 | 153937242 | A | AAATAAAT | upstream_gene_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0051 | 1 | 292 | 0.0034 | 7 | c.-23 others(18): Show |
NAA10 | ENSG00000102030.16 | transcript | ENST00000464845.6 | protein_coding | 2206 | chrX | TogoVar | |||||||
NAA10_chrX_153924225_153940037 | 153938782 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 292 | 0.0034 | 7 | c.-38 others(18): Show |
NAA10 | ENSG00000102030.16 | transcript | ENST00000464845.6 | protein_coding | 3746 | chrX | TogoVar | |||||||
NAA10_chrX_153924225_153940037 | 153939927 | T | TTCTCCCC | upstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 292 | 0.0034 | 7 | c.-50 others(18): Show |
NAA10 | ENSG00000102030.16 | transcript | ENST00000464845.6 | protein_coding | 4891 | chrX | TogoVar | |||||||
NAA15_chr4_139296505_139396384 | 139332572 | G | GTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01071.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0015others(2): Show | a0001c0001t0003g0104 a0001c0001t0003g0110 a0001c0001t0003g0175 others(6): Show |
9 | 334 | 0.0270 | 7 | c.55- others(22): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NAA15_chr4_139296505_139396384 | 139341593 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp2 HG02965.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011 | a0001c0001t0001g0305 a0001c0001t0004g0071 a0001c0001t0004g0076 others(6): Show |
9 | 334 | 0.0270 | 7 | c.402 others(22): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NAA15_chr4_139296505_139396384 | 139341610 | A | AAAAAAAG | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 a0001c0001t0005g0315 a0001c0001t0005g0316 others(3): Show |
6 | 334 | 0.0180 | 7 | c.402 others(22): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NAA16_chr13_41306267_41382030 | 41375568 | C | CGTCTGTG | frameshift_variant | HIGH | HG03688.hp2 | a0009 | a0009c0008 | a0009c0008t0026 | a0009c0008t0026g0078 | 1 | 354 | 0.0028 | 7 | c.256 others(16): Show |
p.Ala others(5): Show |
NAA16 | ENSG00000172766.19 | transcript | ENST00000379406.8 | protein_coding | 20/20 | 2824/4285 | 2562/2595 | 854/864 | chr13 | TogoVar |