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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHRF1_chr11_571470_617222 | 576683 | ACCGCGGG others(12): Show |
A | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 279 | 0.0036 | -19 | c.-22 others(33): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 576745 | GCTGGGAG others(12): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(51): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0009others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0006t0002others(12): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0130 others(48): Show |
54 | 279 | 0.1936 | -19 | c.-22 others(34): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHYH_chr10_13272799_13305064 | 13298921 | AAAATAAT others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(171): Show |
a0001a0005a0007others(4): Show | a0001c0001a0001c0002a0005c0017others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0213 a0001c0001t0001g0229 a0001c0001t0001g0235 others(154): Show |
174 | 438 | 0.3973 | -19 | c.76- others(32): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
PHYKPL_chr5_178203471_178237802 | 178232421 | CGTGCGTC others(12): Show |
C | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 440 | 0.0023 | -19 | c.59+ others(30): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
PI4K2A_chr10_97635671_97681434 | 97678981 | GTGTGTGT others(12): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 350 | 0.0029 | -19 | c.*52 others(30): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2548 | chr10 | TogoVar | |||||||
PI4KA_chr22_20702691_20863811 | 20799344 | AGAGACTA others(12): Show |
A | intron_variant | MODIFIER | NA19083.hp1 | a0015 | a0015c0043 | a0015c0043t0001 | a0015c0043t0001g0266 | 1 | 334 | 0.0030 | -19 | c.182 others(34): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 15/54 | chr22 | TogoVar | |||||||
PIAS2_chr18_46798218_46922507 | 46803044 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02886.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0190a0001c0001t0227 | a0001c0001t0001g0202 a0001c0001t0190g0027 a0001c0001t0227g0044 |
3 | 322 | 0.0093 | -19 | c.*93 others(30): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 173 | chr18 | TogoVar | |||||||
PIBF1_chr13_72777133_73021461 | 72790457 | ACACACAC others(12): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 346 | 0.0029 | -19 | c.253 others(36): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72809476 | GTTAAAGC others(12): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 346 | 0.0029 | -19 | c.672 others(38): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72970172 | AAAGGCTA others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01099.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(4): Show |
7 | 346 | 0.0202 | -19 | c.196 others(38): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PID1_chr2_229018973_229276287 | 229183969 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp1 HG01496.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0082 a0001c0001t0001g0129 others(13): Show |
16 | 256 | 0.0625 | -19 | c.31- others(36): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10795314 | ATATTTTA others(12): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00639.hp2 others(18): Show |
a0001a0002a0003others(10): Show | a0001c0007a0001c0088a0002c0001others(13): Show | a0001c0007t0001a0001c0088t0001a0002c0001t0001others(15): Show | a0001c0007t0001g0041 a0001c0088t0001g0130 a0002c0001t0001g0055 others(18): Show |
21 | 158 | 0.1329 | -19 | c.152 others(36): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 12/55 | chr18 | TogoVar | |||||||
PIGR_chr1_206923522_206951466 | 206926983 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG02723.hp1 HG03041.hp2 NA19043.hp1 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0021 | 3 | 402 | 0.0075 | -19 | c.*33 others(30): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 1538 | chr1 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631764 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0238 | 1 | 320 | 0.0031 | -19 | c.529 others(36): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631766 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 320 | 0.0031 | -19 | c.529 others(36): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631771 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 320 | 0.0031 | -19 | c.529 others(36): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631785 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG02135.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 others(6): Show |
9 | 320 | 0.0281 | -19 | c.529 others(36): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGV_chr1_26782950_26805659 | 26804848 | AGGAGAGG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG03831.hp1 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016 a0001c0001t0005g0046 |
2 | 282 | 0.0071 | -19 | c.*70 others(30): Show |
PIGV | ENSG00000060642.12 | transcript | ENST00000674202.1 | protein_coding | 4190 | chr1 | TogoVar | |||||||
PIGZ_chr3_196941356_196973833 | 196970150 | GATCGCCC others(12): Show |
G | upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0005 | 1 | 424 | 0.0024 | -19 | c.-14 others(30): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 1318 | chr3 | TogoVar | |||||||
PIK3AP1_chr10_96588315_96725514 | 96612966 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03139.hp2 HG03453.hp2 |
a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0027 a0001c0006t0006g0032 |
2 | 256 | 0.0078 | -19 | c.201 others(38): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 13/16 | chr10 | TogoVar | |||||||
PIK3AP1_chr10_96588315_96725514 | 96612982 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0024 | a0002c0024t0001 | a0002c0024t0001g0220 | 1 | 256 | 0.0039 | -19 | c.201 others(38): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 13/16 | chr10 | TogoVar | |||||||
PIK3C2A_chr11_17081575_17212986 | 17105399 | TTTAAGTT others(12): Show |
T | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0029 | 1 | 342 | 0.0029 | -19 | c.354 others(35): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 22/32 | chr11 | TogoVar | |||||||
PIK3CB_chr3_138647698_138839928 | 138693947 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03225.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0023 a0001c0001t0006g0067 |
2 | 206 | 0.0097 | -19 | c.189 others(36): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 14/23 | chr3 | TogoVar | |||||||
PIK3CB_chr3_138647698_138839928 | 138705171 | AAACAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 a0001c0001t0004g0036 |
2 | 206 | 0.0097 | -19 | c.153 others(36): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 11/23 | chr3 | TogoVar | |||||||
PIK3CD_chr1_9646731_9734114 | 9706800 | ATTTCTTT others(12): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 318 | 0.0031 | -19 | c.-32 others(36): Show |
PIK3CD | ENSG00000171608.18 | transcript | ENST00000377346.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PIK3R4_chr3_130673934_130751829 | 130747251 | ATTTTTTT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp1 HG03579.hp2 NA19030.hp1 |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0001a0003c0008t0001 | a0001c0002t0001g0037 a0001c0002t0001g0038 a0003c0008t0001g0047 |
3 | 304 | 0.0099 | -19 | c.-99 others(28): Show |
PIK3R4 | ENSG00000196455.8 | transcript | ENST00000356763.8 | protein_coding | 423 | chr3 | TogoVar | |||||||
PIK3R5_chr17_8873916_8970707 | 8925126 | GATAGATA others(12): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp2 |
a0001a0007 | a0001c0003a0007c0023 | a0001c0003t0004a0007c0023t0004 | a0001c0003t0004g0024 a0007c0023t0004g0152 |
2 | 298 | 0.0067 | -19 | c.-13 others(38): Show |
PIK3R5 | ENSG00000141506.15 | transcript | ENST00000447110.6 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8827743 | GAGAGAGA others(12): Show |
G | intron_variant | MODIFIER | HG01928.hp1 HG01975.hp1 HG02273.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 a0001c0001t0002g0308 a0001c0001t0002g0317 others(2): Show |
5 | 354 | 0.0141 | -19 | c.139 others(36): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 12/19 | chr17 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8827744 | AGAGAGAG others(12): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp1 NA18943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0070 a0001c0001t0001g0235 a0001c0001t0002g0111 others(1): Show |
4 | 354 | 0.0113 | -19 | c.139 others(36): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 12/19 | chr17 | TogoVar | |||||||
PIMREG_chr17_6439455_6456469 | 6456253 | GGCTCAAG others(12): Show |
G | downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 312 | 0.0032 | -19 | c.*59 others(30): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4785 | chr17 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22627588 | TAATAAAA others(12): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0179 | 1 | 206 | 0.0049 | -19 | c.145 others(38): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22705426 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 206 | 0.0049 | -19 | c.144 others(36): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
PIP5K1A_chr1_151193552_151254531 | 151253953 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0020 | 1 | 334 | 0.0030 | -19 | c.*60 others(30): Show |
PIP5K1A | ENSG00000143398.20 | transcript | ENST00000368888.9 | protein_coding | 4423 | chr1 | TogoVar | |||||||
PIP5K1B_chr9_68700240_69014176 | 68910491 | GCTGAATA others(12): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01175.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 others(23): Show |
26 | 220 | 0.1182 | -19 | c.772 others(36): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3696716 | AGGGAGGG others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00621.hp1 others(75): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0263 others(75): Show |
78 | 332 | 0.2349 | -19 | c.94+ others(34): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
PIR_chrX_15379799_15498333 | 15387068 | CTTTTCTT others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(147): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0026 others(146): Show |
150 | 272 | 0.5515 | -19 | c.761 others(36): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 9/9 | chrX | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637124 | AAAATAAT others(12): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02965.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0002 | a0001c0001t0013g0029 a0001c0002t0002g0032 |
2 | 328 | 0.0061 | -19 | c.321 others(38): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637155 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG04199.hp1 NA18948.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 a0001c0001t0004g0042 a0001c0001t0004g0130 |
3 | 328 | 0.0092 | -19 | c.321 others(38): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637157 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp2 HG01891.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0036 a0001c0001t0004g0044 a0001c0001t0004g0049 others(5): Show |
8 | 328 | 0.0244 | -19 | c.321 others(38): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637159 | AAAAAAAT others(12): Show |
A | intron_variant | MODIFIER | HG03942.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055 a0001c0001t0004g0062 |
2 | 328 | 0.0061 | -19 | c.321 others(38): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637161 | AAAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0041 a0001c0001t0005g0112 |
2 | 328 | 0.0061 | -19 | c.321 others(38): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PITPNB_chr22_27846669_27924256 | 27885212 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01928.hp2 HG01943.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0283 a0001c0001t0004g0059 a0001c0001t0004g0060 others(8): Show |
11 | 366 | 0.0301 | -19 | c.456 others(36): Show |
PITPNB | ENSG00000180957.19 | transcript | ENST00000335272.10 | protein_coding | 7/11 | chr22 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67575854 | CTTTCCTT others(12): Show |
C | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 218 | 0.0046 | -19 | c.295 others(36): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67599018 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0156 | 1 | 218 | 0.0046 | -19 | c.366 others(38): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM2_chr12_122978480_123156090 | 123107108 | CTGAGGCC others(12): Show |
C | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 230 | 0.0044 | -19 | c.-96 others(36): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 2/25 | chr12 | TogoVar | |||||||
PITPNM2_chr12_122978480_123156090 | 123128264 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02809.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0048 a0001c0005t0001g0062 |
2 | 230 | 0.0087 | -19 | c.-19 others(40): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 1/25 | chr12 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6451118 | CTCTGGGC others(12): Show |
C | downstream_gene_variant | MODIFIER | NA18975.hp1 | a0018 | a0018c0031 | a0018c0031t0036 | a0018c0031t0036g0170 | 1 | 218 | 0.0046 | -19 | c.*42 others(30): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 144 | chr17 | TogoVar | |||||||
PIWIL1_chr12_130332887_130377637 | 130372597 | CAAAAAAA others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02922.hp1 others(2): Show |
a0001a0005 | a0001c0004a0005c0016 | a0001c0004t0016a0005c0016t0016 | a0001c0004t0016g0335 a0001c0004t0016g0336 a0001c0004t0016g0338 others(2): Show |
5 | 425 | 0.0118 | -19 | c.*96 others(28): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 21/21 | 963 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PJA1_chrX_69155861_69170453 | 69165281 | CCCCCGTG others(12): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 3 | 334 | 0.0090 | -19 | c.-68 others(32): Show |
PJA1 | ENSG00000181191.12 | transcript | ENST00000374571.5 | protein_coding | 1/1 | chrX | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47781390 | TTTTTTTT others(12): Show |
T | intron_variant | MODIFIER | HG02071.hp1 NA18981.hp1 |
a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0265 a0011c0018t0001g0297 |
2 | 306 | 0.0065 | -19 | c.852 others(38): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 56/56 | chr7 | TogoVar |