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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HCN2_chr19_584881_622159 | 597473 | GGTGGTTT others(155): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02922.hp2 HG04228.hp2 |
a0001a0002 | a0001c0078a0002c0012a0002c0064 | a0001c0078t0008a0002c0012t0004a0002c0064t0001 | a0001c0078t0008g0031a0002c0012t0004g0256a0002c0064t0001g0324 | 3 | 408 | 0.0074 | -162 | c.633 others(17): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HNF4A_chr20_44350699_44437845 | 44426018 | GCTGTTGA others(155): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0310 | 1 | 322 | 0.0031 | -162 | c.106 others(19): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 8/9 | chr20 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1365382 | AGCCGGCT others(155): Show |
A | intron_variant | MODIFIER | NA19055.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0042a0001c0001t0011g0013 | 2 | 115 | 0.0174 | -162 | c.874 others(15): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1367062 | GGGGTGAG others(155): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 115 | 0.0087 | -162 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1367149 | AGCGGGGT others(155): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 115 | 0.0087 | -162 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132771775 | GGGACGGA others(155): Show |
G | intron_variant | MODIFIER | HG01167.hp2 NA18971.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0045a0001c0003t0004g0199a0001c0003t0004g0202 | 3 | 204 | 0.0147 | -162 | c.978 others(17): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132771869 | CGCGAAGA others(155): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0013g0024 | 3 | 204 | 0.0147 | -162 | c.978 others(17): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132771884 | AGACACTC others(155): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 204 | 0.0049 | -162 | c.978 others(17): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132772355 | CATGAAGA others(155): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG00642.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0002g0071others(15): Show | 18 | 204 | 0.0882 | -162 | c.978 others(17): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132772389 | GGAGGCCA others(155): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02723.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0019 | 3 | 204 | 0.0147 | -162 | c.978 others(17): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132772567 | ACCCCACG others(155): Show |
A | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 204 | 0.0049 | -162 | c.978 others(17): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132772659 | AGAGGCCA others(155): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02895.hp2 HG02896.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0006 | a0001c0001t0006g0176a0001c0001t0006g0177a0002c0002t0006g0135 | 3 | 204 | 0.0147 | -162 | c.978 others(17): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KATNBL1_chr15_34135674_34215096 | 34143486 | ATTCTGAT others(155): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236a0001c0001t0004g0239 | 2 | 344 | 0.0058 | -162 | c.883 others(17): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 9/9 | chr15 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129286714 | ATATATTA others(155): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0059 | a0003c0059t0002 | a0003c0059t0002g0078 | 1 | 88 | 0.0114 | -162 | c.253 others(18): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 18/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAT2_chr7_74205006_74234834 | 74214461 | TATATATA others(155): Show |
T | intron_variant | MODIFIER | NA18943.hp1 NA18970.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0194 | 3 | 344 | 0.0087 | -162 | c.-21 others(17): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LIPG_chr18_49557057_49604185 | 49579001 | GGGGAGAG others(155): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 384 | 0.0026 | -162 | c.794 others(17): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LPCAT1_chr5_1456427_1528960 | 1459497 | TGTGTAAG others(155): Show |
T | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02809.hp1 |
a0001 | a0001c0009a0001c0019 | a0001c0009t0012a0001c0019t0012 | a0001c0009t0012g0105a0001c0009t0012g0114a0001c0019t0012g0280 | 3 | 386 | 0.0078 | -162 | c.*39 others(11): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 1929 | chr5 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132362662 | CACCTCAC others(155): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0019 | 1 | 290 | 0.0035 | -162 | c.128 others(19): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132362671 | CCAGCTCG others(155): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002a0001c0001t0009g0113a0001c0001t0009g0114others(2): Show | 6 | 290 | 0.0207 | -162 | c.128 others(19): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCF2L_chr13_112964214_113104742 | 113025645 | TGCAACTA others(155): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 116 | 0.0086 | -162 | c.278 others(16): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MED16_chr19_862963_898187 | 872963 | GTGGGGCA others(155): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp1 |
a0002a0008 | a0002c0007a0008c0018 | a0002c0007t0001a0008c0018t0006 | a0002c0007t0001g0015a0008c0018t0006g0014 | 2 | 56 | 0.0357 | -162 | c.190 others(17): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | TogoVar | ||||||
MINAR1_chr15_79427336_79477304 | 79438351 | TGTGTAGT others(155): Show |
T | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 390 | 0.0026 | -162 | c.-51 others(17): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MTNR1B_chr11_92964651_92987782 | 92974565 | TGAGTAGC others(155): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG02027.hp1 others(12): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0002a0001c0001t0006a0008c0007t0002 | a0001c0001t0002g0006a0001c0001t0002g0066a0001c0001t0006g0006others(1): Show | 15 | 402 | 0.0373 | -162 | c.223 others(17): Show |
MTNR1B | ENSG00000134640.3 | transcript | ENST00000257068.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MYLK2_chr20_31814356_31839684 | 31836794 | TATGGTTC others(155): Show |
T | downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 330 | 0.0030 | -162 | c.*29 others(11): Show |
MYLK2 | ENSG00000101306.11 | transcript | ENST00000375985.5 | protein_coding | 2111 | chr20 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108715914 | CTTTTTCT others(155): Show |
C | intron_variant | MODIFIER | HG01099.hp1 | a0010 | a0010c0012 | a0010c0012t0013 | a0010c0012t0013g0013 | 1 | 152 | 0.0066 | -162 | c.363 others(17): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO1F_chr19_8515778_8582442 | 8543744 | CTGGTGGT others(155): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0143 | 1 | 342 | 0.0029 | -162 | c.152 others(17): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543786 | CTGGTGGT others(155): Show |
C | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067 | 1 | 342 | 0.0029 | -162 | c.152 others(17): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086342 | TGTGATCT others(155): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG03225.hp1 |
a0001a0029 | a0001c0003a0029c0183 | a0001c0003t0001a0029c0183t0001 | a0001c0003t0001g0046a0029c0183t0001g0119 | 2 | 403 | 0.0050 | -162 | c.164 others(18): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NBEA_chr13_34937270_35677736 | 35120662 | AATTGGGC others(155): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG01243.hp1 others(18): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0014others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0002g0046a0001c0001t0004g0035a0001c0001t0004g0111others(18): Show | 21 | 122 | 0.1721 | -162 | c.224 others(19): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 16/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NDST3_chr4_118029486_118263634 | 118066584 | AACATGTT others(155): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0113 | 1 | 216 | 0.0046 | -162 | c.981 others(19): Show |
NDST3 | ENSG00000164100.9 | transcript | ENST00000296499.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCMTD2_chr20_64250748_64281226 | 64270719 | AAATGGTA others(155): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01070.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0008a0001c0001t0001g0021a0001c0001t0001g0093others(3): Show | 15 | 332 | 0.0452 | -162 | c.707 others(17): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCMTD2_chr20_64250748_64281226 | 64270748 | CGTGAGGT others(155): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 332 | 0.0030 | -162 | c.707 others(17): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCMTD2_chr20_64250748_64281226 | 64270856 | CGTGAGGT others(155): Show |
C | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 332 | 0.0030 | -162 | c.707 others(17): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCMTD2_chr20_64250748_64281226 | 64271199 | TACGTACA others(155): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00642.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0054others(7): Show | 20 | 332 | 0.0602 | -162 | c.707 others(17): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCMTD2_chr20_64250748_64281226 | 64271253 | TACGTACA others(155): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00597.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0025a0001c0001t0001g0033others(21): Show | 39 | 332 | 0.1175 | -162 | c.707 others(17): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41402408 | GTGTATAT others(155): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG02280.hp1 others(4): Show |
a0003a0004a0018 | a0003c0006a0004c0003a0018c0035 | a0003c0006t0001a0004c0003t0001a0018c0035t0001 | a0003c0006t0001g0005a0003c0006t0001g0095a0003c0006t0001g0096others(4): Show | 7 | 206 | 0.0340 | -162 | c.844 others(21): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIP4K2A_chr10_22529854_22719578 | 22664042 | TATATACA others(155): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0008a0001c0007t0008others(1): Show | a0001c0001t0002g0103a0001c0001t0008g0095a0001c0001t0008g0118others(2): Show | 5 | 206 | 0.0243 | -162 | c.144 others(19): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402446 | ACCCCGGC others(155): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 216 | 0.0046 | -162 | c.173 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PLEK2_chr14_67381984_67417165 | 67399445 | GTCAGGTG others(155): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0141a0001c0001t0001g0167a0001c0009t0001g0142 | 3 | 354 | 0.0085 | -162 | c.43- others(15): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325073 | TGAGTGAG others(155): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0087 | 1 | 398 | 0.0025 | -162 | c.194 others(17): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325101 | AGAGTGAG others(155): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 398 | 0.0025 | -162 | c.194 others(17): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
PPME1_chr11_74166289_74259703 | 74237006 | TAATCTAA others(155): Show |
T | intron_variant | MODIFIER | HG04228.hp2 NA18943.hp2 NA18977.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025a0001c0001t0003g0027a0001c0001t0003g0028others(3): Show | 6 | 370 | 0.0162 | -162 | c.710 others(17): Show |
PPME1 | ENSG00000214517.10 | transcript | ENST00000328257.13 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRKAG2_chr7_151551127_151882115 | 151820485 | GGAACACC others(155): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00639.hp2 others(51): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0026others(51): Show | 54 | 252 | 0.2143 | -162 | c.115 others(19): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151874297 | GATGTATA others(155): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0252 | 1 | 252 | 0.0040 | -162 | c.114 others(17): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2121506 | ATGGTGGT others(155): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0137 | 1 | 286 | 0.0035 | -162 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2123415 | GGTTAGGG others(155): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG02683.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0243a0001c0003t0001g0139a0001c0003t0001g0266 | 3 | 286 | 0.0105 | -162 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRR7_chr5_177441814_177461286 | 177451343 | GCCCACCC others(155): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01928.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0072a0001c0001t0001g0073others(2): Show | 18 | 332 | 0.0542 | -162 | c.-32 others(19): Show |
PRR7 | ENSG00000131188.12 | transcript | ENST00000323249.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PVALB_chr22_36795703_36822035 | 36800015 | TCCCCCCA others(155): Show |
T | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01257.hp1 HG01258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0021a0001c0001t0001g0097others(2): Show | 7 | 421 | 0.0166 | -162 | c.*71 others(9): Show |
PVALB | ENSG00000100362.13 | transcript | ENST00000417718.7 | protein_coding | 687 | chr22 | TogoVar | ||||||
PWWP4_chrX_153261152_153284145 | 153272843 | CCAAGGCC others(155): Show |
C | disruptive_inframe_deletion | MODERATE | HG01884.hp2 | a0042 | a0042c0025 | a0042c0025t0001 | a0042c0025t0001g0052 | 1 | 141 | 0.0071 | -162 | c.126 others(9): Show |
p.Gly others(13): Show |
PWWP4 | ENSG00000278803.3 | transcript | ENST00000458091.5 | protein_coding | 4/4 | 1803/8071 | 1260/6186 | 420/2061 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
RAD17_chr5_69364818_69419801 | 69377499 | ATATATAT others(155): Show |
A | intron_variant | MODIFIER | NA18954.hp1 NA18964.hp1 NA19054.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0050others(2): Show | 5 | 359 | 0.0139 | -162 | c.351 others(17): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |