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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYNN_chr3_169768396_169794716 | 169771331 | TATAAAAA others(18): Show |
T | upstream_gene_variant | MODIFIER | HG02809.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0021 | a0001c0001t0012g0101a0001c0001t0021g0044 | 2 | 350 | 0.0057 | -25 | c.-21 others(36): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2064 | chr3 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108873611 | CACCAGGA others(18): Show |
C | intron_variant | MODIFIER | HG00558.hp1 | a0017 | a0017c0031 | a0017c0031t0001 | a0017c0031t0001g0114 | 1 | 152 | 0.0066 | -25 | c.142 others(44): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109022291 | AATATACA others(18): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00621.hp2 others(107): Show |
a0001a0002a0003others(24): Show | a0001c0002a0001c0005a0001c0008others(54): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(76): Show | a0001c0002t0001g0001a0001c0002t0001g0007a0001c0002t0001g0043others(107): Show | 110 | 152 | 0.7237 | -25 | c.279 others(44): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25789080 | TTCTTCCT others(18): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(99): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0020a0001c0021others(60): Show | a0001c0001t0001a0001c0001t0004a0001c0020t0001others(61): Show | a0001c0001t0001g0041a0001c0001t0001g0048a0001c0001t0001g0061others(99): Show | 102 | 228 | 0.4474 | -25 | c.237 others(44): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 11/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25945832 | CCCTCCCC others(18): Show |
C | intron_variant | MODIFIER | HG00609.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0038 | 1 | 228 | 0.0044 | -25 | c.551 others(42): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25990702 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(22): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0038a0001c0076others(21): Show | a0001c0001t0001a0001c0038t0001a0001c0076t0001others(21): Show | a0001c0001t0001g0048a0001c0038t0001g0173a0001c0076t0001g0193others(22): Show | 25 | 228 | 0.1097 | -25 | c.615 others(44): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO19_chr17_36490636_36539868 | 36518508 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03209.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0263a0003c0003t0001g0264 | 2 | 373 | 0.0054 | -25 | c.415 others(42): Show |
MYO19 | ENSG00000278259.5 | transcript | ENST00000614623.5 | protein_coding | 6/25 | chr17 | TogoVar | ||||||
MYO1A_chr12_57023517_57055129 | 57052796 | TTGAACCC others(18): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 348 | 0.0029 | -25 | c.-29 others(36): Show |
MYO1A | ENSG00000166866.13 | transcript | ENST00000300119.8 | protein_coding | 2668 | chr12 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59236364 | ATATATAC others(18): Show |
A | intron_variant | MODIFIER | HG00140.hp2 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0035a0001c0002t0041 | a0001c0002t0035g0111a0001c0002t0041g0066 | 2 | 226 | 0.0089 | -25 | c.420 others(40): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 5/27 | chr15 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8561425 | TTCTCCTC others(18): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 342 | 0.0029 | -25 | c.4-5 others(38): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170405646 | TGACAGTT others(18): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02970.hp2 |
a0002a0006 | a0002c0006a0006c0021 | a0002c0006t0013a0006c0021t0001 | a0002c0006t0013g0006a0006c0021t0001g0148 | 2 | 174 | 0.0115 | -25 | c.252 others(40): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 21/34 | chr2 | TogoVar | ||||||
MYO3B_chr2_170173147_170660167 | 170474743 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0140 | 1 | 174 | 0.0058 | -25 | c.301 others(44): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170649091 | ATAATGTA others(18): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02132.hp1 HG02523.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0003a0001c0002t0003a0001c0005t0003others(4): Show | a0001c0001t0003g0035a0001c0002t0003g0159a0001c0005t0003g0097others(5): Show | 8 | 174 | 0.0460 | -25 | c.373 others(44): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | chr2 | TogoVar | ||||||
MYO5B_chr18_49817789_50200147 | 50122635 | GAGAGAGA others(18): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG02074.hp2 NA18961.hp2 others(1): Show |
a0002a0003 | a0002c0003a0003c0004a0003c0006 | a0002c0003t0002a0003c0004t0003a0003c0006t0003 | a0002c0003t0002g0164a0002c0003t0002g0165a0003c0004t0003g0196others(1): Show | 4 | 238 | 0.0168 | -25 | c.28- others(42): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | ||||||
MYO6_chr6_75744239_75924537 | 75768326 | CATTTTAT others(18): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02738.hp1 others(12): Show |
a0001a0007 | a0001c0001a0001c0004a0007c0012 | a0001c0001t0010a0001c0001t0017a0001c0001t0033others(10): Show | a0001c0001t0010g0101a0001c0001t0010g0291a0001c0001t0010g0292others(12): Show | 15 | 358 | 0.0419 | -25 | c.-48 others(44): Show |
MYO6 | ENSG00000196586.17 | transcript | ENST00000369977.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYOM1_chr18_3061807_3224968 | 3085229 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01106.hp2 others(9): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0015a0002c0112others(9): Show | a0001c0001t0001a0002c0015t0001a0002c0112t0001others(9): Show | a0001c0001t0001g0131a0002c0015t0001g0179a0002c0112t0001g0153others(9): Show | 12 | 330 | 0.0364 | -25 | c.425 others(41): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 30/37 | chr18 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3134073 | TGGTCTCA others(18): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(181): Show |
a0001a0002a0003others(44): Show | a0001c0001a0001c0002a0001c0005others(108): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(128): Show | a0001c0001t0001g0052a0001c0001t0001g0094a0001c0001t0001g0102others(181): Show | 184 | 330 | 0.5576 | -25 | c.238 others(42): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 16/37 | chr18 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2042044 | TGGATGGA others(18): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02280.hp1 HG03098.hp1 others(2): Show |
a0001a0002a0032others(1): Show | a0001c0020a0001c0095a0002c0006others(2): Show | a0001c0020t0001a0001c0095t0001a0002c0006t0001others(2): Show | a0001c0020t0001g0030a0001c0095t0001g0031a0002c0006t0001g0027others(2): Show | 5 | 403 | 0.0124 | -25 | c.-31 others(36): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 3001 | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2057998 | GTTTTTTT others(18): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01358.hp1 others(9): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0103a0002c0016others(7): Show | a0001c0002t0002a0001c0103t0001a0002c0016t0001others(7): Show | a0001c0002t0002g0004a0001c0103t0001g0346a0002c0016t0001g0037others(9): Show | 12 | 403 | 0.0298 | -25 | c.560 others(40): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2085806 | CCCCCACA others(18): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0059 | a0059c0148 | a0059c0148t0002 | a0059c0148t0002g0035 | 1 | 403 | 0.0025 | -25 | c.164 others(42): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2085827 | CGTGGCCC others(18): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02145.hp2 HG02976.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0039a0002c0015a0002c0034others(2): Show | a0001c0039t0001a0002c0015t0001a0002c0034t0001others(2): Show | a0001c0039t0001g0012a0002c0015t0001g0142a0002c0034t0001g0384others(2): Show | 5 | 403 | 0.0124 | -25 | c.164 others(42): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2085933 | CGTGGCCC others(18): Show |
C | intron_variant | MODIFIER | HG02717.hp1 NA18986.hp2 NA19007.hp2 |
a0002a0003 | a0002c0037a0003c0001 | a0002c0037t0001a0003c0001t0001a0003c0001t0002 | a0002c0037t0001g0047a0003c0001t0001g0333a0003c0001t0002g0306 | 3 | 403 | 0.0074 | -25 | c.164 others(42): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2086164 | GTGATCTC others(18): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02970.hp2 |
a0011a0091 | a0011c0178a0091c0064 | a0011c0178t0001a0091c0064t0001 | a0011c0178t0001g0086a0091c0064t0001g0070 | 2 | 403 | 0.0050 | -25 | c.164 others(42): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2086199 | CGTGGCCC others(18): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03130.hp1 others(1): Show |
a0001a0037a0044others(1): Show | a0001c0023a0037c0134a0044c0193others(1): Show | a0001c0023t0001a0037c0134t0001a0044c0193t0001others(1): Show | a0001c0023t0001g0391a0037c0134t0001g0048a0044c0193t0001g0182others(1): Show | 4 | 403 | 0.0099 | -25 | c.164 others(42): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM3_chr1_24051041_24117135 | 24113311 | TCTTTCTT others(18): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01943.hp2 HG01975.hp2 others(3): Show |
a0001a0003a0005others(1): Show | a0001c0005a0003c0003a0005c0008others(1): Show | a0001c0005t0002a0003c0003t0001a0005c0008t0002others(1): Show | a0001c0005t0002g0084a0003c0003t0001g0178a0005c0008t0002g0038others(3): Show | 6 | 364 | 0.0165 | -25 | c.-13 others(36): Show |
MYOM3 | ENSG00000142661.19 | transcript | ENST00000374434.4 | protein_coding | 1177 | chr1 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64235814 | TGGGTGAC others(18): Show |
T | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0113 | 1 | 223 | 0.0045 | -25 | c.289 others(42): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64235824 | TGGGCTGG others(18): Show |
T | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0033 | 1 | 223 | 0.0045 | -25 | c.289 others(42): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYZAP_chr15_57586904_57690364 | 57592139 | TCCCGTTC others(18): Show |
T | intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0344 | 1 | 352 | 0.0028 | -25 | c.75+ others(36): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MYZAP_chr15_57586904_57690364 | 57687440 | TAATATGT others(18): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01515.hp1 HG02698.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0146a0001c0003t0003g0147a0001c0003t0003g0149 | 3 | 352 | 0.0085 | -25 | c.*29 others(36): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2077 | chr15 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57687471 | AATATGTG others(18): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0190others(1): Show | 4 | 352 | 0.0114 | -25 | c.*29 others(36): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2108 | chr15 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57687974 | TAATGTGT others(18): Show |
T | downstream_gene_variant | MODIFIER | NA18941.hp1 NA18946.hp2 NA18947.hp2 others(6): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0004t0001 | a0002c0002t0002g0004a0002c0002t0002g0005a0002c0002t0002g0072others(5): Show | 9 | 352 | 0.0256 | -25 | c.*34 others(36): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2611 | chr15 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57687977 | TGTGTGTA others(18): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01361.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0314a0002c0002t0002g0080 | 2 | 352 | 0.0057 | -25 | c.*34 others(36): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2614 | chr15 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57688055 | AATATGTG others(18): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 352 | 0.0028 | -25 | c.*35 others(36): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2692 | chr15 | TogoVar | ||||||
N4BP1_chr16_48533726_48615180 | 48552699 | GAAAAAAA others(18): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0152 | 1 | 324 | 0.0031 | -25 | c.202 others(42): Show |
N4BP1 | ENSG00000102921.8 | transcript | ENST00000262384.4 | protein_coding | 3/6 | chr16 | TogoVar | ||||||
NAA25_chr12_112021689_112113783 | 112059075 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG02572.hp2 HG03453.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0001 | a0001c0001t0004g0211a0003c0003t0001g0203a0003c0003t0001g0205others(3): Show | 6 | 342 | 0.0175 | -25 | c.144 others(44): Show |
NAA25 | ENSG00000111300.10 | transcript | ENST00000261745.9 | protein_coding | 13/23 | chr12 | TogoVar | ||||||
NAAA_chr4_75908660_75946013 | 75942304 | CAAAAAAA others(18): Show |
C | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0190 | 1 | 400 | 0.0025 | -25 | c.-13 others(36): Show |
NAAA | ENSG00000138744.16 | transcript | ENST00000286733.9 | protein_coding | 1292 | chr4 | TogoVar | ||||||
NAALAD2_chr11_90129663_90197894 | 90154884 | TATATGTA others(18): Show |
T | intron_variant | MODIFIER | NA18977.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075a0001c0001t0003g0076 | 2 | 364 | 0.0055 | -25 | c.796 others(42): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 174885876 | GTTTTTTT others(18): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 |
a0002a0005 | a0002c0005a0005c0006 | a0002c0005t0005a0005c0006t0018 | a0002c0005t0005g0009a0005c0006t0018g0013 | 2 | 64 | 0.0313 | -25 | c.43+ others(42): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NABP2_chr12_56219342_56234854 | 56233264 | CAAAAAAA others(18): Show |
C | downstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 412 | 0.0024 | -25 | c.*40 others(36): Show |
NABP2 | ENSG00000139579.13 | transcript | ENST00000267023.9 | protein_coding | 3411 | chr12 | TogoVar | ||||||
NACA_chr12_56707427_56730299 | 56713181 | AATCTTCG others(18): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA19091.hp2 | a0016 | a0016c0039 | a0016c0039t0001 | a0016c0039t0001g0085 | 1 | 366 | 0.0027 | -25 | c.597 others(37): Show |
p.Ile others(15): Show |
NACA | ENSG00000196531.14 | transcript | ENST00000454682.6 | protein_coding | 7/9 | 6018/6387 | 5971/6237 | 1991/2078 | chr12 | TogoVar | ||
NACC2_chr9_136001537_136100289 | 136062114 | AGACAGGA others(18): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0063 | a0001c0002t0063g0107 | 1 | 348 | 0.0029 | -25 | c.-59 others(44): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136099637 | CGGGTGGG others(18): Show |
C | upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0297 | 1 | 348 | 0.0029 | -25 | c.-45 others(36): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 4349 | chr9 | TogoVar | ||||||
NAGK_chr2_71063648_71084808 | 71081034 | ATTTATTT others(18): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01168.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0005a0001c0001t0002g0032a0001c0001t0007g0018others(6): Show | 13 | 442 | 0.0294 | -25 | c.*25 others(36): Show |
NAGK | ENSG00000124357.13 | transcript | ENST00000244204.11 | protein_coding | 1227 | chr2 | TogoVar | ||||||
NAPA_chr19_47482637_47520063 | 47509329 | TAAAATAA others(18): Show |
T | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 338 | 0.0030 | -25 | c.98+ others(40): Show |
NAPA | ENSG00000105402.8 | transcript | ENST00000263354.8 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
NAPG_chr18_10521027_10557764 | 10525271 | GGTCAAGG others(18): Show |
G | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0119 | 1 | 424 | 0.0024 | -25 | c.-83 others(34): Show |
NAPG | ENSG00000134265.13 | transcript | ENST00000322897.11 | protein_coding | 755 | chr18 | TogoVar | ||||||
NAV1_chr1_201534127_201831969 | 201643261 | CCTTCCCT others(18): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0010 | a0001c0010t0066 | a0001c0010t0066g0085 | 1 | 210 | 0.0048 | -25 | c.827 others(42): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 19900283 | AGTTGTAT others(18): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(35): Show |
a0001a0002a0003others(5): Show | a0001c0024a0001c0028a0001c0029others(31): Show | a0001c0024t0001a0001c0028t0030a0001c0029t0006others(32): Show | a0001c0024t0001g0047a0001c0028t0030g0073a0001c0029t0006g0104others(35): Show | 38 | 166 | 0.2289 | -25 | c.931 others(42): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 19945153 | CTCCCTTC others(18): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03209.hp2 HG03516.hp1 others(1): Show |
a0001a0003a0019 | a0001c0053a0001c0054a0003c0088others(1): Show | a0001c0053t0010a0001c0054t0005a0003c0088t0002others(1): Show | a0001c0053t0010g0163a0001c0054t0005g0083a0003c0088t0002g0069others(1): Show | 4 | 166 | 0.0241 | -25 | c.214 others(44): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NBEAL1_chr2_203009875_203230194 | 203039211 | TTTCCTTT others(18): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0045 | 1 | 292 | 0.0034 | -25 | c.52- others(40): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NBEAL1_chr2_203009875_203230194 | 203039216 | TTTCCCTT others(18): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0272 | 1 | 292 | 0.0034 | -25 | c.52- others(40): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |