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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO1C_chr17_1459186_1497686 | 1469118 | AGGGTAAA others(12): Show |
A | intron_variant | MODIFIER | NA18943.hp1 NA18998.hp1 NA19001.hp2 others(5): Show |
a0001a0003 | a0001c0006a0001c0032a0003c0004 | a0001c0006t0001a0001c0006t0006a0001c0006t0026others(2): Show | a0001c0006t0001g0148a0001c0006t0001g0149a0001c0006t0001g0165others(5): Show | 8 | 430 | 0.0186 | -19 | c.261 others(36): Show |
MYO1C | ENSG00000197879.17 | transcript | ENST00000648651.1 | protein_coding | 25/31 | chr17 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32673090 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0137 | 1 | 244 | 0.0041 | -19 | c.212 others(40): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 16/21 | chr17 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59157674 | TAAGCGCT others(12): Show |
T | intron_variant | MODIFIER | HG03098.hp2 HG03453.hp2 |
a0001 | a0001c0004a0001c0012 | a0001c0004t0017a0001c0012t0058 | a0001c0004t0017g0008a0001c0012t0058g0226 | 2 | 226 | 0.0089 | -19 | c.287 others(36): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 25/27 | chr15 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8561410 | TCTCCCTC others(12): Show |
T | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 342 | 0.0029 | -19 | c.4-5 others(32): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO1G_chr7_44957662_44984015 | 44961356 | GGGTAAGG others(12): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 | 1 | 378 | 0.0027 | -19 | c.*13 others(30): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1305 | chr7 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109406466 | TTAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0040 | 1 | 312 | 0.0032 | -19 | c.964 others(34): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 8/31 | chr12 | TogoVar | ||||||
MYO1H_chr12_109342900_109453379 | 109427902 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0248 | 1 | 312 | 0.0032 | -19 | c.194 others(36): Show |
MYO1H | ENSG00000174527.11 | transcript | ENST00000310903.10 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYO5A_chr15_52302283_52533880 | 52324002 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02258.hp2 others(6): Show |
a0001a0003 | a0001c0006a0003c0005 | a0001c0006t0014a0003c0005t0019a0003c0005t0028 | a0001c0006t0014g0254a0001c0006t0014g0255a0001c0006t0014g0256others(6): Show | 9 | 302 | 0.0298 | -19 | c.471 others(36): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 36/41 | chr15 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52436813 | TATTATTA others(12): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0006a0002c0002a0003c0005others(6): Show | a0001c0006t0011a0002c0002t0006a0003c0005t0007others(12): Show | a0001c0006t0011g0059a0001c0006t0011g0258a0001c0006t0011g0259others(25): Show | 29 | 302 | 0.0960 | -19 | c.28- others(34): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50030876 | GAAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0003 | 1 | 238 | 0.0042 | -19 | c.455 others(36): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 4/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50122633 | GGGAGAGA others(12): Show |
G | intron_variant | MODIFIER | HG00438.hp2 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0070 | 1 | 238 | 0.0042 | -19 | c.28- others(36): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50122635 | GAGAGAGA others(12): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0223 | 1 | 238 | 0.0042 | -19 | c.28- others(36): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52190778 | TAAAAAAA others(12): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00741.hp1 others(58): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0039others(22): Show | a0001c0001t0002g0186a0001c0001t0002g0188a0001c0001t0002g0189others(57): Show | 61 | 360 | 0.1694 | -19 | c.*31 others(30): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 1543 | chr15 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75749098 | TCTCCCGG others(12): Show |
T | upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0229a0001c0001t0042g0232 | 2 | 358 | 0.0056 | -19 | c.-37 others(28): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 140 | chr6 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75923102 | TGTAAAAT others(12): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0007 | a0001c0007t0052 | a0001c0007t0052g0303 | 1 | 358 | 0.0028 | -19 | c.*80 others(30): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 3566 | chr6 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77170611 | AGTCCCTG others(12): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0009 | a0009c0041 | a0009c0041t0001 | a0009c0041t0001g0209 | 1 | 356 | 0.0028 | -19 | c.179 others(38): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 15/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MYO9A_chr15_71817291_72123150 | 71928042 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0014 | a0014c0016 | a0014c0016t0018 | a0014c0016t0018g0264 | 1 | 308 | 0.0033 | -19 | c.256 others(38): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 18/41 | chr15 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71954361 | TGGCTAAT others(12): Show |
T | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032 | 1 | 308 | 0.0033 | -19 | c.218 others(38): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 14/41 | chr15 | TogoVar | ||||||
MYO9B_chr19_17070777_17218286 | 17090118 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03239.hp2 HG03831.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0054 | a0001c0001t0001a0002c0054t0004 | a0001c0001t0001g0015a0001c0001t0001g0219a0001c0001t0001g0220others(2): Show | 5 | 262 | 0.0191 | -19 | c.-58 others(38): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYO9B_chr19_17070777_17218286 | 17126905 | ACCCCCAC others(12): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(63): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0018others(63): Show | 66 | 262 | 0.2519 | -19 | c.841 others(38): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYOF_chr10_93301429_93487334 | 93303545 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(130): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(45): Show | a0001c0001t0001g0019a0001c0001t0001g0039a0001c0001t0001g0047others(130): Show | 133 | 240 | 0.5542 | -19 | c.*33 others(30): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 2883 | chr10 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3147139 | TAAATATA others(12): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp1 NA19030.hp2 |
a0001a0018 | a0001c0183a0018c0053 | a0001c0183t0001a0018c0053t0001 | a0001c0183t0001g0167a0018c0053t0001g0136a0018c0053t0001g0137 | 3 | 330 | 0.0091 | -19 | c.190 others(38): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 13/37 | chr18 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2048778 | ATTTTTTA others(12): Show |
A | intron_variant | MODIFIER | NA18968.hp2 | a0013 | a0013c0031 | a0013c0031t0001 | a0013c0031t0001g0376 | 1 | 403 | 0.0025 | -19 | c.-12 others(36): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2057998 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(144): Show |
a0001a0002a0003others(46): Show | a0001c0002a0001c0003a0001c0009others(90): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(101): Show | a0001c0002t0001g0216a0001c0002t0001g0220a0001c0002t0002g0201others(144): Show | 147 | 403 | 0.3648 | -19 | c.560 others(34): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40218598 | CATATATA others(12): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03130.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0142a0001c0001t0001g0143others(3): Show | 6 | 170 | 0.0353 | -19 | c.190 others(38): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
N4BP1_chr16_48533726_48615180 | 48609989 | CGCGGCGG others(12): Show |
C | 5_prime_UTR_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0287 | 1 | 324 | 0.0031 | -19 | c.-36 others(26): Show |
N4BP1 | ENSG00000102921.8 | transcript | ENST00000262384.4 | protein_coding | 1/7 | 18 | chr16 | TogoVar | |||||
N4BP2L1_chr13_32395723_32433130 | 32419412 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0009others(146): Show | 192 | 430 | 0.4465 | -19 | c.179 others(36): Show |
N4BP2L1 | ENSG00000139597.18 | transcript | ENST00000380130.7 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
NAA16_chr13_41306267_41382030 | 41379475 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01891.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0014 | a0001c0001t0010a0002c0003t0005a0002c0014t0005 | a0001c0001t0010g0134a0001c0001t0010g0135a0001c0001t0010g0136others(19): Show | 22 | 354 | 0.0622 | -19 | c.*38 others(30): Show |
NAA16 | ENSG00000172766.19 | transcript | ENST00000379406.8 | protein_coding | 2446 | chr13 | TogoVar | ||||||
NAA25_chr12_112021689_112113783 | 112101475 | GGCCGGGT others(12): Show |
G | intron_variant | MODIFIER | HG02080.hp1 NA18961.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0326a0002c0002t0002g0327 | 2 | 342 | 0.0059 | -19 | c.58+ others(34): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 1/23 | chr12 | TogoVar | ||||||
NAAA_chr4_75908660_75946013 | 75942304 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp1 HG02258.hp1 HG02896.hp2 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0180a0001c0001t0001g0181a0001c0001t0001g0183others(6): Show | 9 | 400 | 0.0225 | -19 | c.-13 others(30): Show |
NAAA | ENSG00000138744.16 | transcript | ENST00000286733.9 | protein_coding | 1292 | chr4 | TogoVar | ||||||
NAALAD2_chr11_90129663_90197894 | 90138725 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02922.hp2 HG03041.hp2 others(6): Show |
a0005a0008 | a0005c0007a0005c0014a0008c0010 | a0005c0007t0001a0005c0007t0005a0005c0007t0007others(2): Show | a0005c0007t0001g0330a0005c0007t0005g0323a0005c0007t0005g0324others(6): Show | 9 | 364 | 0.0247 | -19 | c.194 others(36): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAALAD2_chr11_90129663_90197894 | 90155691 | ACATATGT others(12): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0315 | 1 | 364 | 0.0028 | -19 | c.797 others(36): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 6/18 | chr11 | TogoVar | ||||||
NAALAD2_chr11_90129663_90197894 | 90155704 | TTATTATT others(12): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0004a0001c0006t0005 | a0001c0006t0001g0313a0001c0006t0001g0314a0001c0006t0001g0334others(3): Show | 6 | 364 | 0.0165 | -19 | c.797 others(36): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAALAD2_chr11_90129663_90197894 | 90177586 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG03041.hp2 HG03139.hp2 others(3): Show |
a0005 | a0005c0007a0005c0014 | a0005c0007t0001a0005c0007t0005a0005c0007t0007others(1): Show | a0005c0007t0001g0330a0005c0007t0005g0324a0005c0007t0005g0326others(3): Show | 6 | 364 | 0.0165 | -19 | c.159 others(36): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAALADL1_chr11_65039818_65063553 | 65051315 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02615.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0150a0001c0004t0001g0151a0001c0004t0001g0154others(1): Show | 4 | 372 | 0.0108 | -19 | c.119 others(38): Show |
NAALADL1 | ENSG00000168060.16 | transcript | ENST00000358658.8 | protein_coding | 8/17 | chr11 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 174894594 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0046 | 1 | 64 | 0.0156 | -19 | c.43+ others(36): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 175199854 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0014 | 1 | 64 | 0.0156 | -19 | c.546 others(38): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NACC2_chr9_136001537_136100289 | 136024211 | TGTGTGTG others(12): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG01433.hp1 HG02165.hp1 others(4): Show |
a0001a0004 | a0001c0004a0001c0005a0004c0021 | a0001c0004t0004a0001c0004t0019a0001c0005t0012others(1): Show | a0001c0004t0004g0167a0001c0004t0004g0233a0001c0004t0004g0276others(4): Show | 7 | 348 | 0.0201 | -19 | c.887 others(36): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136024435 | GTGTGTGA others(12): Show |
G | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0004 | a0001c0004t0072 | a0001c0004t0072g0231 | 1 | 348 | 0.0029 | -19 | c.887 others(36): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136024518 | TGTGTGTG others(12): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0028 | a0001c0003t0028g0104 | 1 | 348 | 0.0029 | -19 | c.887 others(36): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
NAGK_chr2_71063648_71084808 | 71081015 | TTTTATTT others(12): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 HG03195.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0001g0063a0001c0001t0008g0025a0001c0002t0001g0076others(1): Show | 4 | 442 | 0.0091 | -19 | c.*25 others(30): Show |
NAGK | ENSG00000124357.13 | transcript | ENST00000244204.11 | protein_coding | 1208 | chr2 | TogoVar | ||||||
NALCN_chr13_101048776_101421508 | 101077056 | GTTTTATA others(12): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01123.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0001g0060a0001c0001t0005g0021a0001c0001t0005g0101others(11): Show | 14 | 176 | 0.0796 | -19 | c.388 others(38): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 34/43 | chr13 | TogoVar | ||||||
NALCN_chr13_101048776_101421508 | 101234839 | TCTATCTA others(12): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp1 others(41): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0040a0001c0001t0001g0066a0001c0001t0001g0070others(41): Show | 44 | 176 | 0.2500 | -19 | c.143 others(38): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 12/43 | chr13 | TogoVar | ||||||
NAT10_chr11_34100629_34151908 | 34103733 | CACAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp1 HG03225.hp1 NA19043.hp2 |
a0001 | a0001c0004a0001c0020 | a0001c0004t0005a0001c0020t0005 | a0001c0004t0005g0024a0001c0004t0005g0026a0001c0020t0005g0025 | 3 | 262 | 0.0115 | -19 | c.-20 others(30): Show |
NAT10 | ENSG00000135372.10 | transcript | ENST00000257829.8 | protein_coding | 1895 | chr11 | TogoVar | ||||||
NAV1_chr1_201534127_201831969 | 201765558 | CTAATTTT others(12): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 210 | 0.0048 | -19 | c.208 others(40): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 7/33 | chr1 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 19999232 | CCCACTCA others(12): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0033 | 1 | 166 | 0.0060 | -19 | c.276 others(40): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 11/37 | chr11 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 20051770 | AATATTTA others(12): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0137 | a0002c0137t0017 | a0002c0137t0017g0009 | 1 | 166 | 0.0060 | -19 | c.448 others(36): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NBPF10_chr1_146059711_146149804 | 146076286 | CACACACA others(12): Show |
C | intron_variant | MODIFIER | HG02040.hp2 | a0067 | a0067c0065 | a0067c0065t0019 | a0067c0065t0019g0061 | 1 | 283 | 0.0035 | -19 | c.962 others(36): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 77/89 | chr1 | TogoVar | ||||||
NBPF11_chr1_148097151_148157281 | 148115164 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp1 HG02486.hp1 others(1): Show |
a0000 | a0000c0003a0000c0009a0000c0014 | a0000c0003t0003a0000c0009t0008a0000c0014t0003 | a0000c0003t0003g0270a0000c0009t0008g0026a0000c0014t0003g0266others(1): Show | 4 | 388 | 0.0103 | -19 | c.158 others(36): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 14/23 | chr1 | TogoVar | ||||||
NBPF11_chr1_148097151_148157281 | 148132723 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01928.hp1 HG02027.hp2 HG02135.hp2 others(13): Show |
a0000a0001 | a0000c0002a0000c0008a0001c0001 | a0000c0002t0002a0000c0008t0002a0001c0001t0001 | a0000c0002t0002g0008a0000c0002t0002g0300a0000c0002t0002g0308others(12): Show | 16 | 388 | 0.0412 | -19 | c.-36 others(36): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 4/23 | chr1 | TogoVar |