| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PITPNC1_chr17_67372281_67702256 | 67644425 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01169.hp1 HG01175.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0002g0097a0001c0001t0002g0102a0001c0001t0002g0120others(11): Show | 14 | 218 | 0.0642 | -8 | c.462 others(27): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PITPNC1_chr17_67372281_67702256 | 67660534 | ATTTATTT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0086a0001c0001t0001g0118a0001c0001t0001g0122others(69): Show | 72 | 218 | 0.3303 | -8 | c.463 others(25): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PITPNC1_chr17_67372281_67702256 | 67678846 | TCATGGAA others(1): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG02886.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(2): Show | a0001c0001t0002g0106a0001c0001t0008g0104a0001c0001t0013g0083others(2): Show | 5 | 218 | 0.0229 | -8 | c.682 others(25): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PITPNC1_chr17_67372281_67702256 | 67695606 | GTATATAT others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG01358.hp1 HG01516.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011a0001c0001t0021others(2): Show | a0001c0001t0008g0104a0001c0001t0008g0166a0001c0001t0008g0168others(13): Show | 16 | 218 | 0.0734 | -8 | c.*27 others(19): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 9/9 | 2737 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
| PITPNM2_chr12_122978480_123156090 | 123017984 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02717.hp1 others(2): Show |
a0001a0006 | a0001c0001a0001c0013a0001c0017others(1): Show | a0001c0001t0001a0001c0013t0001a0001c0017t0001others(1): Show | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0013t0001g0053others(2): Show | 5 | 230 | 0.0217 | -8 | c.79- others(23): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 3/25 | chr12 | TogoVar | ||||||
| PITPNM2_chr12_122978480_123156090 | 123018030 | TCCTTCCT others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp2 NA18522.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0004a0002c0003t0004g0008a0002c0003t0004g0010others(2): Show | 5 | 230 | 0.0217 | -8 | c.79- others(23): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 3/25 | chr12 | TogoVar | ||||||
| PITPNM2_chr12_122978480_123156090 | 123067453 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG02523.hp1 HG03490.hp1 HG03492.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0181a0001c0001t0002g0190a0001c0001t0002g0191others(2): Show | 5 | 230 | 0.0217 | -8 | c.-95 others(27): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 2/25 | chr12 | TogoVar | ||||||
| PITPNM2_chr12_122978480_123156090 | 123068455 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01071.hp1 HG01109.hp2 others(21): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(21): Show | 24 | 230 | 0.1044 | -8 | c.-95 others(27): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 2/25 | chr12 | TogoVar | ||||||
| PITPNM2_chr12_122978480_123156090 | 123128264 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG01069.hp2 others(16): Show |
a0001a0005a0008 | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0003a0001c0001t0014a0001c0004t0001others(7): Show | a0001c0001t0003g0099a0001c0001t0003g0100a0001c0001t0003g0101others(16): Show | 19 | 230 | 0.0826 | -8 | c.-19 others(29): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
| PITPNM2_chr12_122978480_123156090 | 123153764 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00609.hp1 others(116): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0093a0001c0001t0001g0116a0001c0001t0001g0117others(115): Show | 119 | 230 | 0.5174 | -8 | c.-32 others(19): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 2675 | chr12 | TogoVar | ||||||
| PITPNM3_chr17_6446263_6561555 | 6453002 | TTCTCTCT others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG02280.hp1 HG02622.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0006a0001c0001t0026a0001c0002t0052others(6): Show | a0001c0001t0006g0035a0001c0001t0006g0128a0001c0001t0026g0148others(10): Show | 13 | 218 | 0.0596 | -8 | c.*23 others(19): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 20/20 | 2328 | chr17 | TogoVar | |||||
| PITPNM3_chr17_6446263_6561555 | 6481738 | TGATAGAT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG02040.hp1 HG02071.hp2 others(6): Show |
a0001 | a0001c0003a0001c0023 | a0001c0003t0001a0001c0003t0021a0001c0003t0032others(4): Show | a0001c0003t0001g0174a0001c0003t0001g0202a0001c0003t0001g0214others(6): Show | 9 | 218 | 0.0413 | -8 | c.587 others(25): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 6/19 | chr17 | TogoVar | ||||||
| PITPNM3_chr17_6446263_6561555 | 6481985 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp2 HG01074.hp1 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(22): Show | a0001c0001t0001g0006a0001c0001t0001g0116a0001c0001t0001g0179others(30): Show | 33 | 218 | 0.1514 | -8 | c.587 others(25): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 6/19 | chr17 | TogoVar | ||||||
| PITPNM3_chr17_6446263_6561555 | 6482032 | CTCTGTCT others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG03710.hp2 |
a0001 | a0001c0006 | a0001c0006t0009a0001c0006t0064 | a0001c0006t0009g0083a0001c0006t0064g0015 | 2 | 218 | 0.0092 | -8 | c.587 others(25): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 6/19 | chr17 | TogoVar | ||||||
| PITPNM3_chr17_6446263_6561555 | 6482040 | GTCTCTCT others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp1 NA18951.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0142a0001c0001t0001g0151 | 3 | 218 | 0.0138 | -8 | c.587 others(25): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 6/19 | chr17 | TogoVar | ||||||
| PITRM1_chr10_3132728_3177782 | 3167271 | TAGAAAGA others(1): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03209.hp2 NA18906.hp1 |
a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0147a0001c0022t0001g0148a0001c0022t0001g0149 | 3 | 446 | 0.0067 | -8 | c.160 others(23): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 2/26 | chr10 | TogoVar | ||||||
| PITRM1_chr10_3132728_3177782 | 3167284 | AGAGCGAG others(1): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG02738.hp2 NA18956.hp1 others(2): Show |
a0001 | a0001c0016a0001c0054 | a0001c0016t0004a0001c0054t0004 | a0001c0016t0004g0063a0001c0016t0004g0064a0001c0016t0004g0066others(2): Show | 5 | 446 | 0.0112 | -8 | c.160 others(23): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 2/26 | chr10 | TogoVar | ||||||
| PITRM1_chr10_3132728_3177782 | 3168915 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG02109.hp2 HG02280.hp2 others(4): Show |
a0002a0004a0005others(1): Show | a0002c0003a0002c0004a0004c0006others(3): Show | a0002c0003t0001a0002c0004t0001a0004c0006t0001others(3): Show | a0002c0003t0001g0161a0002c0003t0001g0162a0002c0004t0001g0243others(4): Show | 7 | 446 | 0.0157 | -8 | c.159 others(25): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 2/26 | chr10 | TogoVar | ||||||
| PIWIL2_chr8_22270316_22362568 | 22330697 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02965.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0165a0001c0001t0001g0166others(2): Show | 5 | 296 | 0.0169 | -8 | c.240 others(29): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PIWIL2_chr8_22270316_22362568 | 22338691 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG01169.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0105a0001c0001t0005g0006a0001c0001t0005g0007others(8): Show | 11 | 296 | 0.0372 | -8 | c.240 others(29): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PIWIL2_chr8_22270316_22362568 | 22351440 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG01069.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0026a0001c0001t0002g0046a0001c0001t0002g0059others(18): Show | 21 | 296 | 0.0710 | -8 | c.240 others(27): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PIWIL2_chr8_22270316_22362568 | 22357784 | TTGTGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00738.hp2 HG01884.hp2 others(37): Show |
a0001a0003a0006 | a0001c0001a0003c0002a0006c0012 | a0001c0001t0001a0001c0001t0029a0003c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0027a0001c0001t0001g0087others(36): Show | 40 | 296 | 0.1351 | -8 | c.*22 others(19): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 217 | chr8 | TogoVar | ||||||
| PIWIL3_chr22_24714034_24779720 | 24720259 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01192.hp2 HG02040.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0031a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0031t0001others(1): Show | a0001c0001t0001g0285a0001c0001t0001g0346a0001c0001t0002g0104others(4): Show | 7 | 386 | 0.0181 | -8 | c.235 others(25): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 19/20 | chr22 | TogoVar | ||||||
| PIWIL3_chr22_24714034_24779720 | 24757079 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG02055.hp1 others(12): Show |
a0001a0005a0009others(1): Show | a0001c0001a0001c0007a0005c0008others(2): Show | a0001c0001t0001a0001c0007t0001a0005c0008t0001others(3): Show | a0001c0001t0001g0229a0001c0001t0001g0257a0001c0001t0001g0311others(12): Show | 15 | 386 | 0.0389 | -8 | c.356 others(23): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
| PIWIL3_chr22_24714034_24779720 | 24757659 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01070.hp1 others(53): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(8): Show | a0001c0001t0001g0188a0001c0001t0001g0189a0001c0001t0001g0190others(50): Show | 56 | 386 | 0.1451 | -8 | c.355 others(23): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
| PJA1_chrX_69155861_69170453 | 69168276 | GTATATAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | -8 | c.-29 others(19): Show |
PJA1 | ENSG00000181191.12 | transcript | ENST00000374571.5 | protein_coding | 2824 | chrX | TogoVar | ||||||
| PJA2_chr5_109329722_109414974 | 109343289 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(76): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0008a0003c0003t0011others(2): Show | a0003c0003t0002g0002a0003c0003t0002g0050a0003c0003t0002g0051others(76): Show | 79 | 346 | 0.2283 | -8 | c.200 others(25): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
| PJA2_chr5_109329722_109414974 | 109361126 | TCAAACAA others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0030a0001c0001t0005g0031a0001c0001t0005g0032others(2): Show | 5 | 346 | 0.0145 | -8 | c.165 others(27): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 6/9 | chr5 | TogoVar | ||||||
| PKD1L1_chr7_47769614_47953466 | 47805086 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01109.hp1 others(31): Show |
a0001a0002a0003others(15): Show | a0001c0007a0001c0068a0002c0132others(21): Show | a0001c0007t0001a0001c0068t0001a0002c0132t0001others(22): Show | a0001c0007t0001g0143a0001c0068t0001g0032a0002c0132t0001g0185others(31): Show | 34 | 306 | 0.1111 | -8 | c.782 others(27): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 52/56 | chr7 | TogoVar | ||||||
| PKD1L1_chr7_47769614_47953466 | 47864576 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG02135.hp2 HG02145.hp2 others(9): Show |
a0001a0004a0005others(9): Show | a0001c0007a0004c0012a0005c0002others(9): Show | a0001c0007t0001a0004c0012t0001a0005c0002t0001others(9): Show | a0001c0007t0001g0058a0004c0012t0001g0269a0005c0002t0001g0135others(9): Show | 12 | 306 | 0.0392 | -8 | c.414 others(25): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 26/56 | chr7 | TogoVar | ||||||
| PKD1L1_chr7_47769614_47953466 | 47880167 | TAGAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(114): Show |
a0001a0002a0003others(47): Show | a0001c0008a0001c0038a0001c0068others(70): Show | a0001c0008t0001a0001c0038t0001a0001c0068t0001others(74): Show | a0001c0008t0001g0028a0001c0008t0001g0029a0001c0008t0001g0030others(114): Show | 117 | 306 | 0.3824 | -8 | c.352 others(25): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | ||||||
| PKD1L1_chr7_47769614_47953466 | 47880257 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp2 HG02109.hp2 others(4): Show |
a0001a0015a0026others(1): Show | a0001c0008a0015c0014a0026c0032others(1): Show | a0001c0008t0001a0015c0014t0001a0026c0032t0001others(1): Show | a0001c0008t0001g0028a0001c0008t0001g0029a0015c0014t0001g0024others(4): Show | 7 | 306 | 0.0229 | -8 | c.352 others(25): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | ||||||
| PKD1L1_chr7_47769614_47953466 | 47882282 | TTCCCTCC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
a0001a0002a0003others(28): Show | a0001c0006a0001c0013a0002c0024others(36): Show | a0001c0006t0001a0001c0013t0001a0002c0024t0001others(37): Show | a0001c0006t0001g0051a0001c0006t0001g0101a0001c0006t0001g0109others(66): Show | 69 | 306 | 0.2255 | -8 | c.326 others(25): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 19/56 | chr7 | TogoVar | ||||||
| PKD1L1_chr7_47769614_47953466 | 47923650 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02257.hp1 others(10): Show |
a0001a0015a0021others(6): Show | a0001c0013a0015c0014a0015c0079others(8): Show | a0001c0013t0001a0015c0014t0001a0015c0079t0001others(8): Show | a0001c0013t0001g0016a0015c0014t0001g0023a0015c0014t0001g0024others(10): Show | 13 | 306 | 0.0425 | -8 | c.106 others(27): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 7/56 | chr7 | TogoVar | ||||||
| PKD1L3_chr16_71924538_72005402 | 71928967 | TGTAGCTC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02258.hp2 others(8): Show |
a0007 | a0007c0007 | a0007c0007t0001a0007c0007t0002 | a0007c0007t0001g0123a0007c0007t0001g0143a0007c0007t0002g0294others(8): Show | 11 | 308 | 0.0357 | -8 | c.*56 others(17): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 570 | chr16 | TogoVar | ||||||
| PKD1L3_chr16_71924538_72005402 | 71964309 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01175.hp2 HG02165.hp2 others(4): Show |
a0004a0005a0008others(3): Show | a0004c0042a0005c0003a0008c0008others(3): Show | a0004c0042t0001a0005c0003t0001a0008c0008t0001others(3): Show | a0004c0042t0001g0107a0005c0003t0001g0164a0005c0003t0001g0173others(4): Show | 7 | 308 | 0.0227 | -8 | c.246 others(25): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 15/29 | chr16 | TogoVar | ||||||
| PKD1L3_chr16_71924538_72005402 | 71978495 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02886.hp2 HG02895.hp1 others(5): Show |
a0014a0021a0030 | a0014c0082a0014c0083a0014c0084others(4): Show | a0014c0082t0001a0014c0083t0001a0014c0084t0001others(4): Show | a0014c0082t0001g0292a0014c0083t0001g0289a0014c0084t0001g0288others(5): Show | 8 | 308 | 0.0260 | -8 | c.139 others(25): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 9/29 | chr16 | TogoVar | ||||||
| PKD1L3_chr16_71924538_72005402 | 71978514 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG01081.hp1 HG01109.hp1 others(26): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0062a0001c0069others(9): Show | a0001c0001t0001a0001c0062t0001a0001c0069t0001others(11): Show | a0001c0001t0001g0206a0001c0001t0001g0209a0001c0001t0001g0276others(26): Show | 29 | 308 | 0.0942 | -8 | c.139 others(25): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 9/29 | chr16 | TogoVar | ||||||
| PKD1L3_chr16_71924538_72005402 | 71981535 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(184): Show |
a0001a0002a0004others(26): Show | a0001c0001a0001c0028a0001c0062others(41): Show | a0001c0001t0001a0001c0028t0001a0001c0062t0001others(44): Show | a0001c0001t0001g0147a0001c0001t0001g0157a0001c0001t0001g0158others(184): Show | 187 | 308 | 0.6071 | -8 | c.114 others(25): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 7/29 | chr16 | TogoVar | ||||||
| PKD1L3_chr16_71924538_72005402 | 71986914 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01192.hp2 HG02738.hp1 others(4): Show |
a0001a0004a0017others(1): Show | a0001c0001a0001c0028a0004c0009others(2): Show | a0001c0001t0001a0001c0028t0001a0004c0009t0001others(2): Show | a0001c0001t0001g0189a0001c0001t0001g0197a0001c0001t0001g0205others(4): Show | 7 | 308 | 0.0227 | -8 | c.586 others(23): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 4/29 | chr16 | TogoVar | ||||||
| PKD2L1_chr10_100283149_100335228 | 100297702 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG01433.hp1 HG02258.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0010a0001c0017others(1): Show | a0001c0001t0001a0001c0010t0001a0001c0017t0001others(1): Show | a0001c0001t0001g0174a0001c0001t0001g0275a0001c0001t0001g0301others(6): Show | 9 | 306 | 0.0294 | -8 | c.732 others(22): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 4/15 | chr10 | TogoVar | ||||||
| PKD2L1_chr10_100283149_100335228 | 100302256 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(44): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0009others(8): Show | a0001c0001t0001a0002c0003t0001a0002c0009t0001others(8): Show | a0001c0001t0001g0271a0001c0001t0001g0294a0001c0001t0001g0295others(43): Show | 47 | 306 | 0.1536 | -8 | c.350 others(25): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
| PKD2L1_chr10_100283149_100335228 | 100321663 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00621.hp1 others(17): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0003a0002c0009others(6): Show | a0001c0001t0001a0002c0003t0001a0002c0009t0001others(6): Show | a0001c0001t0001g0050a0001c0001t0001g0055a0001c0001t0001g0067others(17): Show | 20 | 306 | 0.0654 | -8 | c.349 others(25): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
| PKD2L1_chr10_100283149_100335228 | 100321750 | AGAAAGAA others(1): Show |
A | intron_variant | MODIFIER | HG01928.hp2 HG03579.hp2 NA18959.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0001t0001g0252others(1): Show | 4 | 306 | 0.0131 | -8 | c.349 others(25): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
| PKD2L1_chr10_100283149_100335228 | 100321756 | AAGGGAGG others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01081.hp1 others(7): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0002t0001a0004c0005t0001 | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0097others(7): Show | 10 | 306 | 0.0327 | -8 | c.349 others(25): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
| PKD2L2_chr5_137884457_137947747 | 137910247 | AATAATAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01433.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0113a0002c0002t0001g0126a0002c0002t0001g0207others(1): Show | 4 | 336 | 0.0119 | -8 | c.132 others(27): Show |
PKD2L2 | ENSG00000078795.17 | transcript | ENST00000508883.6 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PKHD1L1_chr8_109357461_109542207 | 109389499 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG01069.hp2 others(55): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0020a0001c0049others(12): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0024others(17): Show | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(54): Show | 58 | 282 | 0.2057 | -8 | c.697 others(23): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PKHD1L1_chr8_109357461_109542207 | 109541279 | AAGATACT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02630.hp2 HG02895.hp2 others(5): Show |
a0005a0017a0019others(4): Show | a0005c0005a0017c0017a0019c0019others(4): Show | a0005c0005t0005a0017c0017t0004a0019c0019t0004others(4): Show | a0005c0005t0005g0142a0017c0017t0004g0273a0017c0017t0004g0274others(5): Show | 8 | 282 | 0.0284 | -8 | c.*11 others(21): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4073 | chr8 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 51720751 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG03098.hp1 |
a0008a0045 | a0008c0018a0045c0084 | a0008c0018t0020a0045c0084t0006 | a0008c0018t0020g0074a0045c0084t0006g0087 | 2 | 134 | 0.0149 | -8 | c.101 others(31): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 60/66 | chr6 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 51758014 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01081.hp1 others(36): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0019a0001c0032others(23): Show | a0001c0002t0001a0001c0002t0009a0001c0019t0001others(26): Show | a0001c0002t0001g0083a0001c0002t0001g0107a0001c0002t0001g0113others(36): Show | 39 | 134 | 0.2910 | -8 | c.864 others(27): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 55/66 | chr6 | TogoVar |