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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P2RX3_chr11_57333352_57377396 | 57374426 | CAAAAAAA others(19): Show |
C | downstream_gene_variant | MODIFIER | HG01256.hp1 NA18939.hp2 NA18987.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0001 a0002c0002t0001g0126 a0002c0002t0001g0140 |
3 | 354 | 0.0085 | -26 | c.*44 others(37): Show |
P2RX3 | ENSG00000109991.10 | transcript | ENST00000263314.3 | protein_coding | 2031 | chr11 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1514473 | TTCCTTTT others(19): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0003t0003a0002c0002t0006 | a0001c0001t0003g0069 a0001c0003t0003g0068 a0002c0002t0006g0067 |
3 | 114 | 0.0263 | -26 | c.-25 others(45): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 189959858 | ATATGTGT others(19): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp1 HG02615.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0018 | a0001c0001t0011a0001c0001t0023a0001c0003t0001others(1): Show | a0001c0001t0011g0079 a0001c0001t0011g0082 a0001c0001t0023g0247 others(2): Show |
5 | 304 | 0.0165 | -26 | c.203 others(45): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 14/14 | chr3 | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 190095303 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00733.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0259 others(2): Show |
5 | 304 | 0.0165 | -26 | c.480 others(45): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093867 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 234 | 0.0043 | -26 | c.-33 others(43): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093869 | AAAAAATA others(19): Show |
A | intron_variant | MODIFIER | NA18969.hp2 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0125 a0001c0001t0003g0126 |
2 | 234 | 0.0086 | -26 | c.-33 others(43): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
PABIR2_chrX_134764566_134802205 | 134788198 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 217 | 0.0046 | -26 | c.435 others(41): Show |
PABIR2 | ENSG00000156504.17 | transcript | ENST00000343004.10 | protein_coding | 6/9 | chrX | TogoVar | |||||||
PABIR2_chrX_134764566_134802205 | 134788222 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0029 others(2): Show |
7 | 217 | 0.0323 | -26 | c.435 others(41): Show |
PABIR2 | ENSG00000156504.17 | transcript | ENST00000343004.10 | protein_coding | 6/9 | chrX | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 162747364 | ACACATAC others(19): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038 a0001c0001t0002g0054 |
2 | 130 | 0.0154 | -26 | c.156 others(45): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 162958870 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0083 | 1 | 130 | 0.0077 | -26 | c.292 others(47): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 162958872 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01517.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0100 a0001c0001t0005g0078 |
2 | 130 | 0.0154 | -26 | c.292 others(47): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 162958874 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02004.hp1 HG06807.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0129 a0001c0001t0003g0008 a0001c0001t0003g0119 others(1): Show |
4 | 130 | 0.0308 | -26 | c.292 others(47): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 162958876 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0018 | a0001c0001t0001g0087 a0001c0002t0018g0063 |
2 | 130 | 0.0154 | -26 | c.292 others(47): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 162958878 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0023 a0001c0001t0003g0068 |
2 | 130 | 0.0154 | -26 | c.292 others(47): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66156204 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02280.hp2 others(10): Show |
a0001a0004 | a0001c0001a0004c0016 | a0001c0001t0001a0004c0016t0001 | a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0141 others(10): Show |
13 | 322 | 0.0404 | -26 | c.357 others(45): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172348 | TTATATAT others(19): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0138 | 1 | 432 | 0.0023 | -26 | c.*46 others(37): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1304 | chr11 | TogoVar | |||||||
PAGE1_chrX_49682447_49700984 | 49689945 | GTATATAC others(19): Show |
G | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 322 | 0.0031 | -26 | c.293 others(41): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102868062 | ACATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(13): Show |
a0001 | a0001c0001a0001c0006a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0041 a0001c0001t0001g0042 others(12): Show |
16 | 312 | 0.0513 | -26 | c.442 others(43): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871931 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0182 | 1 | 312 | 0.0032 | -26 | c.442 others(43): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871933 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | NA18951.hp1 NA18957.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 a0001c0002t0001g0185 |
2 | 312 | 0.0064 | -26 | c.442 others(43): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871937 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0232 | 1 | 312 | 0.0032 | -26 | c.442 others(43): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871939 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0004a0001c0015 | a0001c0004t0001a0001c0004t0002a0001c0004t0007others(1): Show | a0001c0004t0001g0141 a0001c0004t0001g0147 a0001c0004t0001g0149 others(3): Show |
6 | 312 | 0.0192 | -26 | c.442 others(43): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAICS_chr4_56431260_56469578 | 56469442 | CCTTATTG others(19): Show |
C | downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 380 | 0.0026 | -26 | c.*99 others(37): Show |
PAICS | ENSG00000128050.9 | transcript | ENST00000512576.3 | protein_coding | 4865 | chr4 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196766931 | CGTGTGTG others(19): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02630.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0011 | a0001c0001t0005a0001c0001t0021a0001c0001t0036others(4): Show | a0001c0001t0005g0059 a0001c0001t0021g0042 a0001c0001t0036g0041 others(5): Show |
8 | 178 | 0.0449 | -26 | c.-21 others(45): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAK4_chr19_39120786_39184404 | 39144141 | CAGATAGA others(19): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0265 a0001c0001t0006g0268 a0001c0001t0006g0269 others(2): Show |
5 | 368 | 0.0136 | -26 | c.-96 others(45): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23645083 | CTATATAT others(19): Show |
C | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0014 | a0014c0014 | a0014c0014t0002 | a0014c0014t0002g0037 | 1 | 326 | 0.0031 | -26 | c.-39 others(37): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3774 | chr16 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168542717 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp2 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0055 others(47): Show |
50 | 156 | 0.3205 | -26 | c.908 others(45): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168600075 | ACACACAT others(19): Show |
A | intron_variant | MODIFIER | HG02293.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0127 a0001c0001t0011g0128 |
2 | 156 | 0.0128 | -26 | c.909 others(45): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168759202 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | NA18989.hp1 NA19077.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0086 a0001c0004t0002g0108 |
2 | 156 | 0.0128 | -26 | c.196 others(47): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 109876877 | TAGAGGGA others(19): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG01074.hp1 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(12): Show | a0001c0001t0001g0039 a0001c0001t0001g0077 a0001c0001t0001g0101 others(21): Show |
24 | 222 | 0.1081 | -26 | c.127 others(43): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99683054 | AAGAGAGA others(19): Show |
A | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 380 | 0.0026 | -26 | c.252 others(43): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102882052 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01496.hp2 HG02080.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0016 a0001c0001t0002g0022 a0001c0001t0002g0025 others(13): Show |
16 | 188 | 0.0851 | -26 | c.210 others(45): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 103007166 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 188 | 0.0053 | -26 | c.201 others(43): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PANK1_chr10_89577988_89650242 | 89595825 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0019 a0001c0002t0010g0252 |
3 | 366 | 0.0082 | -26 | c.900 others(43): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK1_chr10_89577988_89650242 | 89595829 | AAAAAATA others(19): Show |
A | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 366 | 0.0027 | -26 | c.900 others(43): Show |
PANK1 | ENSG00000152782.19 | transcript | ENST00000307534.10 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PANK4_chr1_2503537_2531596 | 2515973 | CCCGCTGC others(19): Show |
C | intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0155 | 1 | 399 | 0.0025 | -26 | c.121 others(43): Show |
PANK4 | ENSG00000157881.16 | transcript | ENST00000378466.9 | protein_coding | 9/18 | chr1 | TogoVar | |||||||
PAPPA2_chr1_176458175_176850601 | 176563893 | CTTTGGCT others(19): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0101 | 1 | 118 | 0.0085 | -26 | c.919 others(43): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300573 | CTTTCTTT others(19): Show |
C | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 284 | 0.0035 | -26 | c.-27 others(45): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300645 | CTTTCTTT others(19): Show |
C | intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0112 | 1 | 284 | 0.0035 | -26 | c.-27 others(45): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69355287 | CTTTTCTT others(19): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 | 1 | 284 | 0.0035 | -26 | c.-11 others(45): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69382777 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG02257.hp1 NA19086.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0022a0001c0003t0003 | a0001c0001t0022g0049 a0001c0003t0003g0142 a0001c0003t0003g0267 |
3 | 284 | 0.0106 | -26 | c.180 others(43): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205103109 | TATATTTT others(19): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 HG03486.hp1 |
a0001a0011 | a0001c0001a0001c0003a0011c0027 | a0001c0001t0004a0001c0003t0001a0011c0027t0015 | a0001c0001t0004g0017 a0001c0003t0001g0031 a0011c0027t0015g0003 |
3 | 54 | 0.0556 | -26 | c.505 others(43): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34355932 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0080 | 1 | 100 | 0.0100 | -26 | c.206 others(45): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 14/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34573718 | AACAAACA others(19): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG02055.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0004g0019 others(2): Show |
5 | 100 | 0.0500 | -26 | c.223 others(45): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34606156 | ATGTGTGT others(19): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(15): Show | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0074 others(24): Show |
27 | 100 | 0.2700 | -26 | c.223 others(45): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34681748 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 100 | 0.0100 | -26 | c.222 others(45): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34684778 | TACACACA others(19): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01071.hp1 HG01106.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0002t0001a0003c0008t0003 | a0001c0001t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0051 others(1): Show |
4 | 100 | 0.0400 | -26 | c.222 others(45): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34750462 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02451.hp2 HG02559.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0006a0001c0002t0002a0001c0002t0004others(5): Show | a0001c0001t0006g0030 a0001c0002t0002g0039 a0001c0002t0004g0029 others(9): Show |
12 | 100 | 0.1200 | -26 | c.121 others(45): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 1/24 | chr10 | TogoVar | |||||||
PARD6G_chr18_80152232_80252514 | 80184518 | CGTGAAAC others(19): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01255.hp2 HG01891.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0002t0011others(1): Show | a0001c0001t0004g0259 a0001c0001t0006g0258 a0001c0002t0011g0010 others(3): Show |
7 | 382 | 0.0183 | -26 | c.295 others(45): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
PARG_chr10_49813279_49947027 | 49920461 | AAAATATA others(19): Show |
A | intron_variant | MODIFIER | HG01934.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 a0001c0001t0002g0125 |
2 | 292 | 0.0069 | -26 | c.166 others(45): Show |
PARG | ENSG00000227345.9 | transcript | ENST00000616448.2 | protein_coding | 6/17 | chr10 | TogoVar |