| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MXRA7_chr17_76674566_76715965 | 76706296 | GTCACAGA others(56): Show |
G | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0062 | 1 | 416 | 0.0024 | -63 | c.342 others(80): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
| MYMK_chr9_133509586_133529959 | 133511681 | CGTGTGTG others(56): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00735.hp1 others(38): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0010a0001c0002t0001g0014a0001c0002t0001g0022others(26): Show | 41 | 456 | 0.0899 | -63 | c.*28 others(74): Show |
MYMK | ENSG00000187616.5 | transcript | ENST00000339996.4 | protein_coding | 2904 | chr9 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8543681 | GTGGTGGT others(56): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG02132.hp1 |
a0001a0006 | a0001c0010a0006c0024 | a0001c0010t0012a0006c0024t0012 | a0001c0010t0012g0165a0006c0024t0012g0017 | 2 | 342 | 0.0059 | -63 | c.152 others(80): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8543726 | CTGGTGGT others(56): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0074 | 1 | 342 | 0.0029 | -63 | c.152 others(80): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8543738 | GTGGTGCT others(56): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0127 | 1 | 342 | 0.0029 | -63 | c.152 others(80): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8543933 | GTGGTGCT others(56): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0341 | 1 | 342 | 0.0029 | -63 | c.152 others(80): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8574532 | TTTCTTTC others(56): Show |
T | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0331 | 1 | 342 | 0.0029 | -63 | c.3+2 others(76): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 1/27 | chr19 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2103387 | CGTGCATG others(56): Show |
C | intron_variant | MODIFIER | NA18951.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0152 | 1 | 403 | 0.0025 | -63 | c.273 others(80): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYPN_chr10_68104488_68217017 | 68182295 | CATATATA others(56): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03139.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0003a0001c0001t0006a0005c0010t0002 | a0001c0001t0003g0041a0001c0001t0006g0229a0005c0010t0002g0234others(1): Show | 4 | 306 | 0.0131 | -63 | c.270 others(82): Show |
MYPN | ENSG00000138347.17 | transcript | ENST00000358913.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| NCOA6_chr20_34709774_34830651 | 34817149 | AAGCAAAA others(56): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01192.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0094a0001c0001t0001g0120a0001c0001t0001g0123others(1): Show | 4 | 290 | 0.0138 | -63 | c.-16 others(82): Show |
NCOA6 | ENSG00000198646.14 | transcript | ENST00000359003.7 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| NDUFAF7_chr2_37226658_37254160 | 37249580 | CACACACA others(56): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 432 | 0.0023 | -63 | c.*12 others(74): Show |
NDUFAF7 | ENSG00000003509.16 | transcript | ENST00000002125.9 | protein_coding | 421 | chr2 | TogoVar | ||||||
| NDUFS7_chr19_1378907_1400584 | 1391691 | TGGCCAGG others(56): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 418 | 0.0024 | -63 | c.455 others(78): Show |
NDUFS7 | ENSG00000115286.21 | transcript | ENST00000233627.14 | protein_coding | 6/7 | chr19 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805900 | CCCTCCCC others(56): Show |
C | upstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 319 | 0.0031 | -63 | c.-33 others(74): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3292 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806158 | TCCCCCCT others(56): Show |
T | upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 319 | 0.0031 | -63 | c.-31 others(74): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3034 | chr2 | TogoVar | ||||||
| NGB_chr14_77260483_77276206 | 77269668 | TTCTCTCT others(56): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02922.hp2 NA19006.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0098a0001c0001t0001g0105a0001c0001t0001g0229others(1): Show | 4 | 366 | 0.0109 | -63 | c.90- others(76): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
| NGB_chr14_77260483_77276206 | 77269721 | TCTCTCTT others(56): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 366 | 0.0027 | -63 | c.90- others(76): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
| NGB_chr14_77260483_77276206 | 77269738 | TCTCTCTC others(56): Show |
T | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 366 | 0.0027 | -63 | c.90- others(76): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
| NGB_chr14_77260483_77276206 | 77269740 | TCTCTCTC others(56): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0074 | 3 | 366 | 0.0082 | -63 | c.90- others(76): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
| NLRP2_chr19_54961374_55006138 | 54976802 | TGTTCTCT others(56): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02647.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0010a0001c0013a0002c0003others(2): Show | a0001c0010t0001a0001c0013t0001a0001c0013t0017others(3): Show | a0001c0010t0001g0184a0001c0010t0001g0189a0001c0010t0001g0350others(7): Show | 10 | 429 | 0.0233 | -63 | c.326 others(78): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NLRP3_chr1_247411173_247453817 | 247416614 | GGGGCAGG others(56): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(84): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0001t0001g0086others(79): Show | 87 | 440 | 0.1977 | -63 | c.-74 others(80): Show |
NLRP3 | ENSG00000162711.18 | transcript | ENST00000336119.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NME8_chr7_37843597_37905397 | 37848182 | AGAAGAAG others(56): Show |
A | upstream_gene_variant | MODIFIER | HG01934.hp1 HG01981.hp2 HG03490.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0008others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0008t0001others(3): Show | a0001c0001t0001g0158a0001c0001t0001g0172a0001c0001t0001g0173others(5): Show | 10 | 388 | 0.0258 | -63 | c.-78 others(72): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 414 | chr7 | TogoVar | ||||||
| NPIPB15_chr16_74371306_74397115 | 74391657 | GGTCCCTC others(56): Show |
G | disruptive_inframe_deletion | MODERATE | HG02451.hp2 HG02965.hp2 |
a0010 | a0010c0010 | a0010c0010t0011 | a0010c0010t0011g0078a0010c0010t0011g0159 | 2 | 261 | 0.0077 | -63 | c.957 others(71): Show |
p.Lys others(13): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 8/8 | 2020/2430 | 957/1332 | 319/443 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPB7_chr16_28451329_28477336 | 28456634 | GAGATTAT others(56): Show |
G | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00544.hp1 HG02083.hp1 others(29): Show |
a0004a0014a0018others(4): Show | a0004c0004a0014c0017a0018c0021others(4): Show | a0004c0004t0001a0004c0004t0050a0004c0004t0051others(7): Show | a0004c0004t0001g0001a0004c0004t0001g0190a0004c0004t0001g0203others(21): Show | 32 | 382 | 0.0838 | -63 | c.972 others(71): Show |
p.Lys others(13): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 7/7 | 2932/3238 | 972/1245 | 324/414 | chr16 | TogoVar | ||
| NPIPB8_chr16_28633065_28663744 | 28658252 | TCTTCCAC others(56): Show |
T | disruptive_inframe_deletion | MODERATE | HG03486.hp1 NA18968.hp2 NA18980.hp1 others(2): Show |
a0013a0020a0026others(1): Show | a0013c0040a0013c0042a0020c0047others(2): Show | a0013c0040t0001a0013c0042t0001a0020c0047t0001others(2): Show | a0013c0040t0001g0109a0013c0042t0001g0327a0020c0047t0001g0215others(2): Show | 5 | 351 | 0.0143 | -63 | c.102 others(72): Show |
p.Lys others(13): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 8/8 | 1150/1537 | 1026/1299 | 342/432 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NPIPB9_chr16_28746787_28777864 | 28772377 | TCTTCCAC others(56): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(90): Show |
a0001a0003a0008others(7): Show | a0001c0001a0001c0004a0001c0013others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(85): Show | 93 | 179 | 0.5196 | -63 | c.102 others(72): Show |
p.Lys others(13): Show |
NPIPB9 | ENSG00000196993.9 | transcript | ENST00000357796.8 | protein_coding | 7/7 | 1712/2094 | 1026/1299 | 342/432 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| NVL_chr1_224222345_224335172 | 224276911 | TTGACACA others(56): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(46): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(3): Show | a0001c0001t0001g0023a0001c0001t0001g0034a0001c0001t0001g0052others(45): Show | 49 | 284 | 0.1725 | -63 | c.196 others(82): Show |
NVL | ENSG00000143748.18 | transcript | ENST00000281701.11 | protein_coding | 16/22 | chr1 | TogoVar | ||||||
| NWD1_chr19_16714847_16822953 | 16735803 | AAGGAAGG others(56): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0004 | a0004c0009 | a0004c0009t0013 | a0004c0009t0013g0206 | 1 | 300 | 0.0033 | -63 | c.82- others(76): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NXN_chr17_794310_984776 | 952239 | GGGGGGGC others(56): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0223 | 1 | 242 | 0.0041 | -63 | c.360 others(82): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 952303 | GGGGGGGC others(56): Show |
G | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 242 | 0.0041 | -63 | c.360 others(82): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 952431 | GGGGGGGC others(56): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0227 | 1 | 242 | 0.0041 | -63 | c.360 others(82): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 952623 | GGGGGGGC others(56): Show |
G | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 242 | 0.0041 | -63 | c.360 others(82): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| OARD1_chr6_41059772_41077356 | 41071326 | TACTAAGC others(56): Show |
T | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 370 | 0.0027 | -63 | c.40- others(75): Show |
OARD1 | ENSG00000124596.17 | transcript | ENST00000424266.7 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
| OPCML_chr11_132409981_133537501 | 133140985 | AGAAGAAG others(56): Show |
A | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 68 | 0.0147 | -63 | c.62- others(82): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| OR8H2_chr11_56098687_56112658 | 56104817 | GCCATTCA others(56): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0017 | 1 | 452 | 0.0022 | -63 | c.-17 others(75): Show |
OR8H2 | ENSG00000181767.3 | transcript | ENST00000313503.2 | protein_coding | 2/2 | 162 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
| OSTF1_chr9_75083514_75152265 | 75128518 | TATTTTGT others(56): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0285 | 1 | 366 | 0.0027 | -63 | c.132 others(78): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| OTUD7A_chr15_31470398_31875673 | 31510955 | TGTATATC others(56): Show |
T | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 244 | 0.0041 | -63 | c.894 others(80): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| PALMD_chr1_99641113_99699535 | 99683021 | AAAGAAAG others(56): Show |
A | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 380 | 0.0026 | -63 | c.252 others(80): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PARD6G_chr18_80152232_80252514 | 80207013 | GACTTAAC others(56): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00735.hp2 others(40): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0005a0003c0009t0005 | a0001c0001t0005g0005a0001c0001t0005g0223a0001c0001t0005g0224others(39): Show | 43 | 382 | 0.1126 | -63 | c.73- others(78): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 1/2 | chr18 | TogoVar | ||||||
| PARD6G_chr18_80152232_80252514 | 80207229 | AGATGTTT others(56): Show |
A | intron_variant | MODIFIER | HG02965.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0135a0001c0001t0026g0084 | 2 | 382 | 0.0052 | -63 | c.73- others(78): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 1/2 | chr18 | TogoVar | ||||||
| PARP12_chr7_140018749_140067951 | 140035966 | GAGGACGA others(56): Show |
G | intron_variant | MODIFIER | HG00735.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0066 | 1 | 360 | 0.0028 | -63 | c.132 others(82): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
| PARP12_chr7_140018749_140067951 | 140035993 | GAGGAGGA others(56): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02258.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0001 | a0001c0002t0001g0256a0001c0009t0001g0264 | 2 | 360 | 0.0056 | -63 | c.132 others(82): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
| PARVB_chr22_44019302_44177939 | 44114969 | GTTACTAA others(56): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0014a0001c0001t0021others(4): Show | a0001c0001t0003g0328a0001c0001t0014g0131a0001c0001t0021g0090others(4): Show | 7 | 332 | 0.0211 | -63 | c.274 others(80): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PBX2_chr6_32179733_32195202 | 32184580 | TCAGGCCA others(56): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG02145.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0014others(8): Show | a0001c0001t0001g0005a0001c0001t0013g0015a0001c0001t0014g0020others(8): Show | 28 | 435 | 0.0644 | -63 | c.*17 others(74): Show |
PBX2 | ENSG00000204304.12 | transcript | ENST00000375050.6 | protein_coding | 152 | chr6 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 53822383 | GGGAGGAG others(56): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0010 | a0010c0009 | a0010c0009t0012 | a0010c0009t0012g0042 | 1 | 102 | 0.0098 | -63 | c.436 others(82): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 32/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53816099_54806231 | 53822383 | GGGAGGAG others(56): Show |
G | disruptive_inframe_deletion | MODERATE | HG03130.hp2 | a0027 | a0027c0027 | a0027c0027t0008 | a0027c0027t0008g0039 | 1 | 94 | 0.0106 | -63 | c.528 others(72): Show |
p.Ala others(15): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 33/33 | 5677/6962 | 5280/5868 | 1760/1955 | chr10 | TogoVar | ||
| PDGFD_chr11_103902189_104169147 | 104119341 | TGATATAA others(56): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG03579.hp2 HG03688.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0002g0093a0001c0001t0002g0104a0001c0001t0002g0118others(7): Show | 10 | 200 | 0.0500 | -63 | c.124 others(82): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| PGAM5_chr12_132705842_132727734 | 132718373 | GGTGCGTG others(56): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0019 | a0001c0004t0019g0172 | 1 | 394 | 0.0025 | -63 | c.719 others(78): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PGBD5_chr1_230309490_230431332 | 230396225 | TTTTTACC others(56): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02976.hp1 NA18960.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0190a0001c0001t0007g0191a0001c0001t0007g0198others(1): Show | 4 | 288 | 0.0139 | -63 | c.331 others(82): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
| PIGP_chr21_37060374_37078071 | 37071188 | ACTGTTCC others(56): Show |
A | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 436 | 0.0023 | -63 | c.82+ others(78): Show |
PIGP | ENSG00000185808.14 | transcript | ENST00000360525.9 | protein_coding | 2/4 | chr21 | TogoVar | ||||||
| PKD2L1_chr10_100283149_100335228 | 100314981 | AGGAAGGA others(56): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0022 | 1 | 306 | 0.0033 | -63 | c.349 others(82): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar |