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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHACTR1_chr6_12711767_13292837 | 13231079 | GGAAGGAA | G | intron_variant | MODIFIER | HG01167.hp1 HG01496.hp1 HG02055.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0058 others(12): Show |
15 | 108 | 0.1389 | -7 | c.139 others(24): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13263238 | GTTTTTTT | G | intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG02109.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0016 others(20): Show |
23 | 108 | 0.2130 | -7 | c.139 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13267838 | GAAAAAAA | G | intron_variant | MODIFIER | HG02647.hp1 HG02896.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0101 others(1): Show |
4 | 108 | 0.0370 | -7 | c.139 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13284544 | ATATATAT | A | intron_variant | MODIFIER | HG02027.hp2 HG03831.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0044 a0001c0002t0003g0095 |
2 | 108 | 0.0185 | -7 | c.165 others(24): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 13/14 | chr6 | TogoVar | |||||||
PHACTR2_chr6_143672965_143836185 | 143736554 | ATTTTTTT | A | intron_variant | MODIFIER | HG01243.hp2 HG01256.hp2 HG01515.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0008a0001c0001t0010others(10): Show | a0001c0001t0006g0089 a0001c0001t0008g0048 a0001c0001t0010g0074 others(14): Show |
17 | 310 | 0.0548 | -7 | c.215 others(26): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143832338 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01099.hp1 HG01123.hp1 others(58): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0012a0001c0001t0013a0001c0001t0016others(41): Show | a0001c0001t0012g0105 a0001c0001t0013g0099 a0001c0001t0013g0169 others(58): Show |
61 | 310 | 0.1968 | -7 | c.*86 others(18): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 1154 | chr6 | TogoVar | |||||||
PHACTR3_chr20_59599540_59852711 | 59813205 | ACCTTCCC | A | intron_variant | MODIFIER | HG01109.hp2 HG01257.hp2 HG01258.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0088 others(21): Show |
24 | 250 | 0.0960 | -7 | c.132 others(26): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28409951 | ATTTTTTT | A | intron_variant | MODIFIER | HG01109.hp2 HG01516.hp2 HG02145.hp1 others(2): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0007 | a0001c0003t0004a0002c0002t0002a0002c0002t0017others(2): Show | a0001c0003t0004g0128 a0002c0002t0002g0217 a0002c0002t0017g0184 others(2): Show |
5 | 228 | 0.0219 | -7 | c.16+ others(22): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28486526 | GTTTGTTT | G | intron_variant | MODIFIER | HG01255.hp1 HG02451.hp1 HG02615.hp1 others(3): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0008a0002c0002t0037 | a0001c0005t0008g0091 a0001c0005t0008g0092 a0001c0005t0008g0093 others(3): Show |
6 | 228 | 0.0263 | -7 | c.176 others(26): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHC1_chr12_8909509_8946467 | 8927906 | TTTCTTTC | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00673.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0005others(4): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(7): Show | a0001c0002t0001g0032 a0001c0002t0003g0056 a0001c0002t0003g0223 others(17): Show |
32 | 368 | 0.0870 | -7 | c.613 others(24): Show |
PHC1 | ENSG00000111752.11 | transcript | ENST00000544916.6 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170122540 | ATTAACAT | A | intron_variant | MODIFIER | HG02145.hp1 HG02970.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 a0001c0001t0003g0209 a0001c0001t0003g0210 others(1): Show |
4 | 332 | 0.0121 | -7 | c.194 others(22): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 9/14 | chr3 | TogoVar | |||||||
PHEX_chrX_22027325_22256310 | 22029981 | GGTTGTTT | G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02630.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0101a0001c0001t0117a0001c0001t0127 | a0001c0001t0101g0045 a0001c0001t0117g0046 a0001c0001t0127g0047 |
3 | 231 | 0.0130 | -7 | c.-30 others(18): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 2343 | chrX | TogoVar | |||||||
PHEX_chrX_22027325_22256310 | 22073635 | GTTTTTTT | G | intron_variant | MODIFIER | HG04184.hp2 NA19058.hp1 NA19077.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016a0001c0001t0071others(2): Show | a0001c0001t0005g0229 a0001c0001t0016g0125 a0001c0001t0071g0179 others(2): Show |
5 | 231 | 0.0217 | -7 | c.350 others(24): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22176384 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(15): Show | a0001c0001t0001g0158 a0001c0001t0002g0113 a0001c0001t0007g0151 others(15): Show |
18 | 231 | 0.0779 | -7 | c.148 others(26): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22176397 | AAAAAAAT | A | intron_variant | MODIFIER | HG01099.hp1 HG01168.hp2 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0053a0001c0001t0142 | a0001c0001t0026g0178 a0001c0001t0053g0205 a0001c0001t0142g0025 |
3 | 231 | 0.0130 | -7 | c.148 others(26): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22198101 | GTTATATA | G | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01070.hp2 others(72): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(66): Show | a0001c0001t0001g0136 a0001c0001t0001g0218 a0001c0001t0002g0098 others(72): Show |
75 | 231 | 0.3247 | -7 | c.164 others(26): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22232596 | CTTTTTTT | C | intron_variant | MODIFIER | HG01069.hp1 HG01934.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0027a0002c0003t0022 | a0001c0001t0027g0143 a0002c0003t0022g0022 |
2 | 231 | 0.0087 | -7 | c.207 others(26): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHF11_chr13_49490953_49533976 | 49501010 | TTTTTTGG | T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02109.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0035 others(14): Show |
20 | 414 | 0.0483 | -7 | c.94+ others(22): Show |
PHF11 | ENSG00000136147.18 | transcript | ENST00000378319.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PHF12_chr17_28900250_28956518 | 28930943 | GAGCCTAT | G | intron_variant | MODIFIER | NA18960.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0057 |
2 | 232 | 0.0086 | -7 | c.249 others(24): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
PHF13_chr1_6608731_6629030 | 6613201 | CAGCGGGG | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(82): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0003g0004 others(19): Show |
85 | 412 | 0.2063 | -7 | c.-86 others(16): Show |
PHF13 | ENSG00000116273.6 | transcript | ENST00000377648.5 | protein_coding | 529 | chr1 | TogoVar | |||||||
PHF14_chr7_10968872_11174618 | 11143362 | TCTTCCGC | T | intron_variant | MODIFIER | HG02818.hp1 HG03209.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 |
3 | 298 | 0.0101 | -7 | c.277 others(28): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHF14_chr7_10968872_11174618 | 11164679 | AATTTCCC | A | intron_variant | MODIFIER | HG00639.hp2 HG02109.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0002t0001a0001c0011t0007 | a0001c0001t0001g0023 a0001c0002t0001g0027 a0001c0011t0007g0200 |
3 | 298 | 0.0101 | -7 | c.277 others(26): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHF19_chr9_120850651_120882188 | 120864722 | TAATATGG | T | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00642.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0011a0001c0001t0015others(2): Show | a0001c0001t0004g0013 a0001c0001t0004g0016 a0001c0001t0004g0032 others(24): Show |
33 | 408 | 0.0809 | -7 | c.901 others(22): Show |
PHF19 | ENSG00000119403.15 | transcript | ENST00000373896.8 | protein_coding | 9/14 | chr9 | TogoVar | |||||||
PHF20_chr20_35767015_35955370 | 35803754 | ATATATAT | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0042 a0001c0001t0001g0060 a0001c0001t0013g0036 |
3 | 206 | 0.0146 | -7 | c.83+ others(22): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35889009 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp2 others(73): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0063 others(73): Show |
76 | 206 | 0.3689 | -7 | c.128 others(28): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45990250 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG02080.hp1 HG02559.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 others(18): Show |
21 | 280 | 0.0750 | -7 | c.154 others(26): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 46012768 | TAAGGCCA | T | intron_variant | MODIFIER | HG00323.hp1 HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0242 |
3 | 280 | 0.0107 | -7 | c.154 others(26): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44886392 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00609.hp2 others(53): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0003a0001c0001t0019a0001c0001t0024others(17): Show | a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0038 others(53): Show |
56 | 300 | 0.1867 | -7 | c.119 others(24): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 10/12 | chr22 | TogoVar | |||||||
PHF2_chr9_93571584_93684587 | 93593084 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp2 others(105): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(15): Show | a0001c0001t0001g0029 a0001c0001t0002g0028 a0001c0001t0002g0174 others(100): Show |
108 | 350 | 0.3086 | -7 | c.98+ others(24): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PHF5A_chr22_41454717_41473692 | 41457453 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0002g0003 a0001c0001t0002g0006 |
6 | 408 | 0.0147 | -7 | c.*29 others(18): Show |
PHF5A | ENSG00000100410.8 | transcript | ENST00000216252.4 | protein_coding | 2263 | chr22 | TogoVar | |||||||
PHF8_chrX_53931680_54049473 | 53954499 | CAAAAAAA | C | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 186 | 0.0054 | -7 | c.253 others(26): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 19/21 | chrX | TogoVar | |||||||
PHIP_chr6_78929419_79083254 | 78985019 | TTAACTCA | T | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG02572.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0008a0002c0002t0048others(2): Show | a0002c0002t0003g0193 a0002c0002t0003g0195 a0002c0002t0008g0197 others(3): Show |
6 | 318 | 0.0189 | -7 | c.253 others(24): Show |
PHIP | ENSG00000146247.15 | transcript | ENST00000275034.5 | protein_coding | 22/39 | chr6 | TogoVar | |||||||
PHIP_chr6_78929419_79083254 | 78998958 | ACAATAAC | A | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0007a0001c0010 | a0001c0007t0012a0001c0007t0047a0001c0010t0029 | a0001c0007t0012g0172 a0001c0007t0012g0173 a0001c0007t0012g0174 others(6): Show |
9 | 318 | 0.0283 | -7 | c.188 others(24): Show |
PHIP | ENSG00000146247.15 | transcript | ENST00000275034.5 | protein_coding | 17/39 | chr6 | TogoVar | |||||||
PHIP_chr6_78929419_79083254 | 79029415 | CTATACAA | C | intron_variant | MODIFIER | HG02280.hp1 HG02965.hp1 NA19043.hp2 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0001 | 3 | 318 | 0.0094 | -7 | c.601 others(24): Show |
PHIP | ENSG00000146247.15 | transcript | ENST00000275034.5 | protein_coding | 7/39 | chr6 | TogoVar | |||||||
PHKA1_chrX_72573814_72719306 | 72710814 | CTTTATTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00558.hp1 others(154): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0027 others(148): Show |
157 | 237 | 0.6625 | -7 | c.237 others(24): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 2/31 | chrX | TogoVar | |||||||
PHKG1_chr7_56075295_56097952 | 56075855 | AGTTTTTT | A | downstream_gene_variant | MODIFIER | HG02155.hp1 NA18990.hp2 NA19004.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 a0001c0002t0001g0031 |
4 | 418 | 0.0096 | -7 | c.*51 others(18): Show |
PHKG1 | ENSG00000164776.11 | transcript | ENST00000297373.7 | protein_coding | 4439 | chr7 | TogoVar | |||||||
PHKG2_chr16_30743425_30766176 | 30747149 | CATTCCAG | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(260): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(185): Show |
263 | 264 | 0.9962 | -7 | c.-13 others(18): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 1275 | chr16 | TogoVar | |||||||
PHKG2_chr16_30743425_30766176 | 30757171 | GCTCTGGC | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(247): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(173): Show |
250 | 264 | 0.9470 | -7 | c.*85 others(14): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 10/10 | 85 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHLDB1_chr11_118602615_118663028 | 118649283 | GAAAAAAA | G | intron_variant | MODIFIER | NA18941.hp1 NA18945.hp2 NA18956.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0076 a0001c0003t0003g0178 a0001c0003t0003g0182 others(3): Show |
6 | 356 | 0.0169 | -7 | c.365 others(24): Show |
PHLDB1 | ENSG00000019144.20 | transcript | ENST00000600882.6 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHLDB2_chr3_111854265_111981517 | 111966517 | GTGTGTCT | G | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00738.hp2 others(32): Show |
a0001a0002a0010 | a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0005others(11): Show | a0001c0003t0001g0070 a0001c0003t0003g0245 a0001c0003t0005g0152 others(31): Show |
35 | 286 | 0.1224 | -7 | c.307 others(22): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 13/17 | chr3 | TogoVar | |||||||
PHLPP1_chr18_62710541_62985433 | 62792868 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02083.hp1 others(2): Show |
a0001a0003a0016 | a0001c0002a0003c0004a0016c0026 | a0001c0002t0006a0003c0004t0008a0003c0004t0018others(1): Show | a0001c0002t0006g0049 a0003c0004t0008g0058 a0003c0004t0008g0059 others(2): Show |
5 | 192 | 0.0260 | -7 | c.157 others(28): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62903426 | GGAAGAGA | G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp1 others(9): Show |
a0001a0006a0007 | a0001c0001a0006c0010a0007c0019 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 others(9): Show |
12 | 192 | 0.0625 | -7 | c.264 others(24): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHTF2_chr7_77793773_77962225 | 77912710 | CTTTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG02630.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0295 a0001c0001t0001g0297 others(6): Show |
9 | 314 | 0.0287 | -7 | c.674 others(24): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHTF2_chr7_77793773_77962225 | 77925495 | GTTTTTTT | G | intron_variant | MODIFIER | HG00733.hp1 HG02135.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0016a0001c0002t0025others(1): Show | a0001c0002t0002g0022 a0001c0002t0002g0029 a0001c0002t0002g0048 others(6): Show |
9 | 314 | 0.0287 | -7 | c.101 others(26): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHYHIPL_chr10_59171643_59252770 | 59244562 | CAAAAAAA | C | intron_variant | MODIFIER | HG00673.hp2 HG01433.hp1 HG01884.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127 a0002c0002t0001g0141 a0002c0002t0001g0147 others(4): Show |
7 | 202 | 0.0347 | -7 | c.597 others(22): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PHYH_chr10_13272799_13305064 | 13298867 | TTGCAGAG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(257): Show |
288 | 438 | 0.6575 | -7 | c.76- others(20): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
PHYH_chr10_13272799_13305064 | 13298921 | AAAATAAT | A | intron_variant | MODIFIER | HG03139.hp2 HG03579.hp2 NA19002.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 |
3 | 438 | 0.0069 | -7 | c.76- others(20): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
PHYKPL_chr5_178203471_178237802 | 178226078 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG01099.hp2 HG01175.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0007 | a0001c0001t0002g0036 a0001c0001t0002g0309 a0001c0001t0002g0310 others(8): Show |
12 | 440 | 0.0273 | -7 | c.339 others(22): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 3/12 | chr5 | TogoVar | |||||||
PI15_chr8_74819534_74860029 | 74844309 | GGAACACC | G | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 a0001c0001t0003g0178 |
3 | 338 | 0.0089 | -7 | c.392 others(22): Show |
PI15 | ENSG00000137558.9 | transcript | ENST00000260113.7 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
PI4K2A_chr10_97635671_97681434 | 97642824 | TTCCTTCC | T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01243.hp2 others(31): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0002t0004a0001c0006t0020 | a0001c0002t0002g0056 a0001c0002t0004g0001 a0001c0002t0004g0018 others(30): Show |
34 | 350 | 0.0971 | -7 | c.435 others(24): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |