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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIK3R1_chr5_68210756_68306821 | 68262796 | C | CGTAGATA others(21): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 308 | 0.0033 | 28 | c.335 others(47): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68262807 | G | GTAGATGC others(21): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18957.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0040a0001c0005t0080 | a0001c0002t0040g0186 a0001c0005t0080g0026 |
2 | 308 | 0.0065 | 28 | c.335 others(47): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68262807 | G | GTAGATGC others(21): Show |
intron_variant | MODIFIER | HG01515.hp1 HG03017.hp1 NA18952.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0016a0001c0005t0068a0001c0005t0077 | a0001c0001t0016g0010 a0001c0005t0068g0051 a0001c0005t0077g0076 |
3 | 308 | 0.0097 | 28 | c.335 others(47): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68262807 | G | GTAGATGC others(21): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0120 | a0001c0001t0022g0291 a0001c0001t0022g0292 a0001c0001t0120g0015 |
3 | 308 | 0.0097 | 28 | c.335 others(47): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68262964 | T | TATACATG others(21): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0003 | a0002c0003t0017 | a0002c0003t0017g0275 | 1 | 308 | 0.0033 | 28 | c.335 others(47): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68263153 | G | GTACATAT others(21): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18747.hp2 NA19001.hp2 |
a0002 | a0002c0004 | a0002c0004t0003a0002c0004t0085 | a0002c0004t0003g0135 a0002c0004t0003g0143 a0002c0004t0085g0179 |
3 | 308 | 0.0097 | 28 | c.335 others(47): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R3_chr1_46035140_46137629 | 46067277 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0022 | 1 | 318 | 0.0031 | 28 | c.315 others(43): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATAGA others(21): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 318 | 0.0031 | 28 | c.315 others(45): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 a0001c0001t0003g0051 |
2 | 318 | 0.0063 | 28 | c.315 others(45): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02109.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0017a0001c0003t0006 | a0001c0001t0003g0039 a0001c0001t0017g0013 a0001c0003t0006g0010 |
3 | 318 | 0.0094 | 28 | c.315 others(45): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
PIK3R3_chr1_46035140_46137629 | 46071730 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 a0001c0001t0003g0031 |
2 | 318 | 0.0063 | 28 | c.315 others(45): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
PIK3R3_chr1_46035140_46137629 | 46071759 | A | AGAGAGAG others(21): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016 | 1 | 318 | 0.0031 | 28 | c.315 others(45): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
PIP5K1B_chr9_68700240_69014176 | 68925795 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03516.hp1 NA18980.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0161 a0001c0001t0002g0184 a0001c0001t0002g0192 others(1): Show |
4 | 220 | 0.0182 | 28 | c.120 others(47): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3696707 | C | CGGGAGGG others(21): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055 | 1 | 332 | 0.0030 | 28 | c.94+ others(43): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
PIP5KL1_chr9_127915881_127935777 | 127930215 | C | CAACGTGA others(21): Show |
intron_variant | MODIFIER | NA18976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 400 | 0.0025 | 28 | c.31- others(41): Show |
PIP5KL1 | ENSG00000167103.12 | transcript | ENST00000388747.9 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
PIRT_chr17_10817470_10843087 | 10827465 | C | CTTTTCTT others(21): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 454 | 0.0022 | 28 | c.-13 others(47): Show |
PIRT | ENSG00000233670.7 | transcript | ENST00000580256.3 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
PIRT_chr17_10817470_10843087 | 10843041 | T | TTTCTTTT others(21): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0026 a0001c0001t0002g0225 a0001c0001t0011g0029 |
5 | 454 | 0.0110 | 28 | c.-52 others(39): Show |
PIRT | ENSG00000233670.7 | transcript | ENST00000580256.3 | protein_coding | 4955 | chr17 | TogoVar | |||||||
PIR_chrX_15379799_15498333 | 15483174 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19082.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0028 a0001c0002t0001g0225 |
2 | 272 | 0.0074 | 28 | c.97- others(43): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67413401 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG00741.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0183 others(28): Show |
31 | 218 | 0.1422 | 28 | c.48+ others(45): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67494185 | T | TTCTCTTT others(21): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 218 | 0.0046 | 28 | c.49- others(45): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67494185 | T | TTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG00639.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019 | a0001c0001t0008g0179 a0001c0001t0019g0085 |
2 | 218 | 0.0092 | 28 | c.49- others(45): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67494185 | T | TTCTTTTT others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0131 a0001c0001t0002g0150 a0001c0001t0002g0189 others(7): Show |
10 | 218 | 0.0459 | 28 | c.49- others(45): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67494185 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 218 | 0.0046 | 28 | c.49- others(45): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67522659 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0112 | 1 | 218 | 0.0046 | 28 | c.49- others(45): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599001 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0202 | 1 | 218 | 0.0046 | 28 | c.366 others(47): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67629238 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02083.hp2 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0212 a0001c0001t0004g0046 a0001c0001t0008g0214 others(3): Show |
6 | 218 | 0.0275 | 28 | c.367 others(45): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67688338 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG01074.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0162 others(11): Show |
14 | 218 | 0.0642 | 28 | c.683 others(45): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6491836 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02080.hp1 HG03491.hp1 HG03492.hp1 others(1): Show |
a0001a0013 | a0001c0003a0013c0037 | a0001c0003t0032a0001c0003t0075a0001c0003t0098others(1): Show | a0001c0003t0032g0010 a0001c0003t0075g0216 a0001c0003t0098g0009 others(1): Show |
4 | 218 | 0.0184 | 28 | c.275 others(45): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4/19 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6560766 | T | TTCCTCCT others(21): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01099.hp1 HG01884.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0029others(9): Show | a0001c0001t0002g0071 a0001c0001t0006g0035 a0001c0001t0029g0054 others(9): Show |
12 | 218 | 0.0551 | 28 | c.-43 others(39): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4212 | chr17 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3174583 | C | CTTTTTTT others(21): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG01071.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0051 | a0001c0001t0001a0001c0002t0001a0001c0051t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0075 others(21): Show |
30 | 446 | 0.0673 | 28 | c.-18 others(39): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1802 | chr10 | TogoVar | |||||||
PIWIL2_chr8_22270316_22362568 | 22351436 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0290 a0001c0001t0003g0291 |
2 | 296 | 0.0068 | 28 | c.240 others(47): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24757675 | C | CACACATA others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 others(13): Show |
16 | 386 | 0.0415 | 28 | c.355 others(43): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24764625 | C | CGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 386 | 0.0026 | 28 | c.-22 others(45): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 1/20 | chr22 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354156 | T | TATCAAGA others(21): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01928.hp2 HG03942.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0053 a0003c0003t0002g0077 a0003c0003t0002g0115 |
3 | 346 | 0.0087 | 28 | c.176 others(47): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109372905 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG02074.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 a0002c0002t0001g0159 a0002c0002t0001g0164 others(2): Show |
5 | 346 | 0.0145 | 28 | c.128 others(47): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104211 | A | AAGGGGGA others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03130.hp1 HG06807.hp1 others(2): Show |
a0006a0018a0078others(1): Show | a0006c0008a0018c0059a0018c0060others(2): Show | a0006c0008t0002a0018c0059t0001a0018c0060t0002others(2): Show | a0006c0008t0002g0206 a0018c0059t0001g0021 a0018c0060t0002g0019 others(2): Show |
5 | 216 | 0.0232 | 28 | c.816 others(45): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 22/45 | chr16 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321890 | G | GGGAAGCA others(21): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0212 | 1 | 306 | 0.0033 | 28 | c.349 others(45): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321890 | G | GGGAAGGA others(21): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 a0001c0001t0001g0270 |
2 | 306 | 0.0065 | 28 | c.349 others(45): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321894 | G | GGGAAGCA others(21): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19240.hp1 |
a0004 | a0004c0005a0004c0015 | a0004c0005t0001a0004c0015t0001 | a0004c0005t0001g0214 a0004c0015t0001g0213 |
2 | 306 | 0.0065 | 28 | c.349 others(45): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321894 | G | GGGAGGGA others(21): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 306 | 0.0033 | 28 | c.349 others(45): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321904 | C | CAAGGAAG others(21): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 306 | 0.0033 | 28 | c.349 others(45): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKHD1L1_chr8_109357461_109542207 | 109383424 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0049 | a0049c0041 | a0049c0041t0022 | a0049c0041t0022g0134 | 1 | 282 | 0.0036 | 28 | c.418 others(43): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109410726 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0044 | a0044c0046 | a0044c0046t0004 | a0044c0046t0004g0009 | 1 | 282 | 0.0036 | 28 | c.208 others(45): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51758012 | A | AAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0004 | a0004c0044 | a0004c0044t0015 | a0004c0044t0015g0057 | 1 | 134 | 0.0075 | 28 | c.864 others(47): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 55/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51758014 | A | AAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 134 | 0.0075 | 28 | c.864 others(47): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 55/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51801639 | T | TTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0004 | a0004c0014 | a0004c0014t0004 | a0004c0014t0004g0024 | 1 | 134 | 0.0075 | 28 | c.830 others(49): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 52/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51801654 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 134 | 0.0075 | 28 | c.830 others(49): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 52/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51801654 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 NA20300.hp2 |
a0001a0003a0004 | a0001c0022a0003c0015a0004c0044 | a0001c0022t0001a0003c0015t0001a0004c0044t0015 | a0001c0022t0001g0129 a0003c0015t0001g0041 a0004c0044t0015g0057 |
3 | 134 | 0.0224 | 28 | c.830 others(49): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 52/66 | chr6 | TogoVar | |||||||
PKIA_chr8_78511340_78610267 | 78602694 | A | AATATATA others(21): Show |
3_prime_UTR_variant | MODIFIER | HG02004.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0029 | a0001c0001t0018g0133 a0001c0001t0029g0015 |
2 | 186 | 0.0108 | 28 | c.*89 others(37): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 4/4 | 894 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122626073 | T | TATAGATA others(21): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0248 | 1 | 312 | 0.0032 | 28 | c.-16 others(47): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |