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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGRMC1_chrX_119231285_119249466 | 119233377 | ATGTGTGT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 3 | 264 | 0.0114 | -12 | c.-29 others(23): Show |
PGRMC1 | ENSG00000101856.10 | transcript | ENST00000217971.8 | protein_coding | 2907 | chrX | TogoVar | ||||||
PGRMC2_chr4_128264242_128292813 | 128277157 | AAAACAAA others(5): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 436 | 0.0023 | -12 | c.419 others(29): Show |
PGRMC2 | ENSG00000164040.18 | transcript | ENST00000296425.10 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101052269 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp2 others(12): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(7): Show | a0001c0001t0004g0217a0001c0001t0007g0045a0001c0001t0007g0048others(12): Show | 15 | 254 | 0.0591 | -12 | c.221 others(29): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101064331 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 |
a0003a0005 | a0003c0005a0005c0012 | a0003c0005t0055a0005c0012t0058 | a0003c0005t0055g0167a0005c0012t0058g0019 | 2 | 254 | 0.0079 | -12 | c.190 others(31): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78386978 | ATGGTGAT others(5): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0347a0001c0001t0001g0348a0001c0001t0001g0376others(3): Show | 6 | 398 | 0.0151 | -12 | c.144 others(29): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PGS1_chr17_78373649_78429659 | 78402397 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00673.hp1 NA19004.hp2 NA19089.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114a0001c0002t0001g0143a0001c0002t0001g0153 | 3 | 398 | 0.0075 | -12 | c.881 others(29): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PGS1_chr17_78373649_78429659 | 78402417 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(82): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0007a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(9): Show | a0001c0002t0001g0001a0001c0002t0001g0007a0001c0002t0001g0008others(78): Show | 85 | 398 | 0.2136 | -12 | c.881 others(29): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PGS1_chr17_78373649_78429659 | 78406041 | GCGCGGTG others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(12): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0013a0001c0007t0006 | a0001c0002t0001g0001a0001c0002t0001g0111a0001c0002t0001g0155others(10): Show | 15 | 398 | 0.0377 | -12 | c.140 others(31): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PGS1_chr17_78373649_78429659 | 78425756 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(288): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(272): Show | 291 | 398 | 0.7312 | -12 | c.*17 others(23): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1098 | chr17 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12730986 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0046a0001c0001t0002g0045 | 2 | 108 | 0.0185 | -12 | c.103 others(31): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 12792464 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0067 | 1 | 108 | 0.0093 | -12 | c.250 others(31): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 12808766 | TCTTCTCC others(5): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 108 | 0.0093 | -12 | c.250 others(31): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 12830092 | GGAAAGAA others(5): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0004 | a0001c0001t0001g0011a0001c0001t0001g0036a0001c0001t0002g0074others(1): Show | 4 | 108 | 0.0370 | -12 | c.250 others(31): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 12999572 | CTGGGTGA others(5): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0100a0001c0001t0002g0006 | 2 | 108 | 0.0185 | -12 | c.251 others(31): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13059458 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02027.hp1 HG03225.hp2 NA18946.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0094a0001c0001t0002g0074a0001c0001t0002g0075others(2): Show | 5 | 108 | 0.0463 | -12 | c.415 others(29): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13064602 | ATATCTAT others(5): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG01993.hp2 HG02109.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0024a0001c0001t0002g0040a0001c0001t0002g0045others(2): Show | 5 | 108 | 0.0463 | -12 | c.415 others(31): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13133233 | CTCCCTCT others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp1 HG01175.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0029a0001c0001t0001g0058others(27): Show | 30 | 108 | 0.2778 | -12 | c.416 others(31): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13179701 | GAGATAGA others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0061 | 2 | 108 | 0.0185 | -12 | c.497 others(29): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13288118 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02572.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0004 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0046others(5): Show | 8 | 108 | 0.0741 | -12 | c.*10 others(23): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 282 | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143736554 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02698.hp2 HG03017.hp1 HG03704.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0201a0001c0001t0001g0205a0001c0001t0002g0203others(5): Show | 8 | 310 | 0.0258 | -12 | c.215 others(31): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR2_chr6_143672965_143836185 | 143757959 | GCGCGCAC others(5): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0018 | a0001c0018t0027 | a0001c0018t0027g0304 | 1 | 310 | 0.0032 | -12 | c.455 others(29): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR2_chr6_143672965_143836185 | 143771146 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0297 | 1 | 310 | 0.0032 | -12 | c.123 others(31): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR2_chr6_143672965_143836185 | 143771182 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02027.hp1 HG02970.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0014others(7): Show | a0001c0001t0003g0077a0001c0001t0009g0278a0001c0001t0014g0268others(7): Show | 10 | 310 | 0.0323 | -12 | c.123 others(31): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR2_chr6_143672965_143836185 | 143796379 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 HG02647.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0004a0001c0003t0023a0001c0003t0094others(4): Show | a0001c0001t0004g0243a0001c0003t0023g0142a0001c0003t0094g0155others(7): Show | 10 | 310 | 0.0323 | -12 | c.184 others(31): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR2_chr6_143672965_143836185 | 143796407 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0167 | 1 | 310 | 0.0032 | -12 | c.184 others(31): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR2_chr6_143672965_143836185 | 143827155 | AATATATA others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01981.hp2 HG02004.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0015a0002c0002t0015 | a0001c0003t0015g0106a0002c0002t0015g0036a0002c0002t0015g0046others(2): Show | 5 | 310 | 0.0161 | -12 | c.*34 others(23): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 13/13 | 3499 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
PHACTR3_chr20_59599540_59852711 | 59635101 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 250 | 0.0040 | -12 | c.118 others(31): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59638374 | TGGTGGAT others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0241 | 1 | 250 | 0.0040 | -12 | c.118 others(31): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59639059 | AGATGGAT others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01928.hp2 HG02055.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0015 | a0001c0001t0010g0020a0001c0001t0010g0064a0001c0001t0011g0021others(2): Show | 5 | 250 | 0.0200 | -12 | c.118 others(31): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59651827 | TGGTAGGT others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01256.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0027others(14): Show | 18 | 250 | 0.0720 | -12 | c.118 others(31): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59674477 | CCCCTTGT others(5): Show |
C | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 250 | 0.0040 | -12 | c.119 others(31): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59686656 | GTGGTGAT others(5): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0004g0057a0001c0001t0006g0069a0001c0001t0010g0064others(2): Show | 5 | 250 | 0.0200 | -12 | c.119 others(31): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59686719 | GTGGTTAT others(5): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0245 | 1 | 250 | 0.0040 | -12 | c.119 others(31): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59686737 | GTGATGAT others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(88): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0014others(88): Show | 91 | 250 | 0.3640 | -12 | c.119 others(31): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59686922 | TGTGATGA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 250 | 0.0040 | -12 | c.119 others(31): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59687094 | ATGGTGGT others(5): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0039a0001c0001t0015g0241 | 2 | 250 | 0.0080 | -12 | c.119 others(31): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59716206 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(47): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0036others(46): Show | 50 | 250 | 0.2000 | -12 | c.119 others(31): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59723060 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01192.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0025others(20): Show | 24 | 250 | 0.0960 | -12 | c.119 others(31): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59742454 | CTGCTCAC others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp1 HG01361.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0019a0001c0001t0001g0101a0001c0001t0003g0028others(1): Show | 4 | 250 | 0.0160 | -12 | c.119 others(27): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59772106 | CAGAGTCT others(5): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0095a0001c0001t0013g0029 | 2 | 250 | 0.0080 | -12 | c.752 others(29): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59826502 | CCTGGCAT others(5): Show |
C | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 250 | 0.0040 | -12 | c.132 others(32): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | chr20 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28456916 | CAGATAGA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01106.hp1 others(33): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0004a0001c0003t0006others(8): Show | a0001c0001t0001g0025a0001c0001t0001g0062a0001c0001t0001g0103others(33): Show | 36 | 228 | 0.1579 | -12 | c.17- others(27): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28458097 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02145.hp1 others(9): Show |
a0001a0002 | a0001c0003a0001c0005a0002c0002 | a0001c0003t0004a0001c0003t0019a0001c0003t0034others(2): Show | a0001c0003t0004g0119a0001c0003t0004g0128a0001c0003t0004g0223others(9): Show | 12 | 228 | 0.0526 | -12 | c.17- others(25): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28458108 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 228 | 0.0044 | -12 | c.17- others(25): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHAF1_chr16_67104941_67153544 | 67107249 | CGTGTGTG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG01884.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(13): Show | 18 | 230 | 0.0783 | -12 | c.-29 others(23): Show |
PHAF1 | ENSG00000125149.12 | transcript | ENST00000219139.8 | protein_coding | 2691 | chr16 | TogoVar | ||||||
PHAF1_chr16_67104941_67153544 | 67139726 | TAGTGAAT others(5): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 230 | 0.0044 | -12 | c.662 others(27): Show |
PHAF1 | ENSG00000125149.12 | transcript | ENST00000219139.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHAX_chr5_126595947_126632252 | 126607404 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG00733.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0040 | a0001c0001t0001g0246a0001c0001t0001g0247a0001c0001t0003g0003others(21): Show | 32 | 382 | 0.0838 | -12 | c.711 others(27): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
PHAX_chr5_126595947_126632252 | 126611047 | CGTTTGTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(138): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(20): Show | a0001c0001t0002g0052a0001c0001t0002g0053a0001c0001t0002g0054others(121): Show | 141 | 382 | 0.3691 | -12 | c.831 others(29): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PHAX_chr5_126595947_126632252 | 126622442 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0038 | 1 | 382 | 0.0026 | -12 | c.916 others(29): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PHAX_chr5_126595947_126632252 | 126630923 | CTTATTTA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG00733.hp2 others(71): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0029a0001c0001t0001g0246a0001c0001t0001g0247others(62): Show | 74 | 382 | 0.1937 | -12 | c.*60 others(23): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 3672 | chr5 | TogoVar |