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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC51_chr11_72075850_72101895 | 72095798 | CAGTAGCT others(72): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0089 | 1 | 336 | 0.0030 | -79 | c.*27 others(88): Show |
LRRC51 | ENSG00000184154.16 | transcript | ENST00000289488.8 | protein_coding | 6/6 | 279 | chr11 | TogoVar | ||||||
LYAR_chr4_4262701_4295154 | 4294659 | ATTCCTAT others(72): Show |
A | upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 436 | 0.0023 | -79 | c.-48 others(90): Show |
LYAR | ENSG00000145220.14 | transcript | ENST00000343470.9 | protein_coding | 4506 | chr4 | TogoVar | |||||||
MAP3K11_chr11_65592757_65619221 | 65596798 | AGCCCTAG others(72): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(62): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0002a0001c0001t0009a0001c0002t0002others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0009 others(22): Show |
65 | 392 | 0.1658 | -79 | c.*14 others(90): Show |
MAP3K11 | ENSG00000173327.8 | transcript | ENST00000309100.8 | protein_coding | 958 | chr11 | TogoVar | |||||||
MARCHF4_chr2_216252865_216377483 | 216375986 | AAAAATAA others(72): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0092 | 1 | 330 | 0.0030 | -79 | c.-58 others(90): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 3504 | chr2 | TogoVar | |||||||
MATN2_chr8_97864064_98041724 | 98001748 | GATTACAG others(72): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0073 | a0001c0073t0002 | a0001c0073t0002g0046 | 1 | 318 | 0.0031 | -79 | c.120 others(98): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 7/18 | chr8 | TogoVar | |||||||
MIEF2_chr17_18255662_18271552 | 18270102 | ACAGTGCA others(72): Show |
A | downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 418 | 0.0024 | -79 | c.*53 others(90): Show |
MIEF2 | ENSG00000177427.13 | transcript | ENST00000323019.9 | protein_coding | 3551 | chr17 | TogoVar | |||||||
MLXIPL_chr7_73588202_73629522 | 73600639 | CGAGTGGG others(72): Show |
C | intron_variant | MODIFIER | HG01928.hp1 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0225 |
2 | 276 | 0.0073 | -79 | c.902 others(95): Show |
MLXIPL | ENSG00000009950.16 | transcript | ENST00000313375.8 | protein_coding | 7/16 | chr7 | TogoVar | |||||||
MROH2A_chr2_233773330_233838418 | 233787586 | CATATATA others(72): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG02155.hp1 |
a0001a0067 | a0001c0001a0067c0092 | a0001c0001t0001a0067c0092t0001 | a0001c0001t0001g0306 a0067c0092t0001g0307 |
2 | 378 | 0.0053 | -79 | c.277 others(96): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPS31_chr13_40724128_40776190 | 40768342 | ACTTTAAG others(72): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(61): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(45): Show |
64 | 404 | 0.1584 | -79 | c.153 others(96): Show |
MRPS31 | ENSG00000102738.8 | transcript | ENST00000323563.8 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
MSH2_chr2_47398156_47488223 | 47426917 | GATGTTTG others(72): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(238): Show |
241 | 370 | 0.6514 | -79 | c.107 others(98): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MX1_chr21_41421239_41464212 | 41449759 | GGGCACCA others(72): Show |
G | intron_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0087 | 1 | 408 | 0.0025 | -79 | c.143 others(96): Show |
MX1 | ENSG00000157601.15 | transcript | ENST00000398598.8 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
MYBPC2_chr19_50427892_50471321 | 50457363 | AACCCAAG others(72): Show |
A | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 | 1 | 396 | 0.0025 | -79 | c.233 others(98): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108849769 | CCCTAGAC others(72): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0007 | a0007c0023 | a0007c0023t0001 | a0007c0023t0001g0103 | 1 | 152 | 0.0066 | -79 | c.124 others(98): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MYOF_chr10_93301429_93487334 | 93335781 | CCTAGGCC others(72): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0050 | a0001c0050t0003 | a0001c0050t0003g0227 | 1 | 240 | 0.0042 | -79 | c.456 others(95): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 41/53 | chr10 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2085759 | AGTCGTGA others(72): Show |
A | intron_variant | MODIFIER | HG00639.hp2 NA18971.hp1 |
a0024a0027 | a0024c0072a0027c0055 | a0024c0072t0002a0027c0055t0001 | a0024c0072t0002g0028 a0027c0055t0001g0170 |
2 | 403 | 0.0050 | -79 | c.164 others(96): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085827 | CGTGGCCC others(72): Show |
C | intron_variant | MODIFIER | HG03139.hp1 HG03139.hp2 |
a0022a0036 | a0022c0027a0036c0132 | a0022c0027t0001a0036c0132t0001 | a0022c0027t0001g0091 a0036c0132t0001g0074 |
2 | 403 | 0.0050 | -79 | c.164 others(96): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085858 | CCCCCACT others(72): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0289 | 1 | 403 | 0.0025 | -79 | c.164 others(96): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085895 | CGTGATCT others(72): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0236 | 1 | 403 | 0.0025 | -79 | c.164 others(96): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085933 | CGTGGCCC others(72): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG02145.hp2 |
a0001a0002 | a0001c0118a0002c0034 | a0001c0118t0002a0002c0034t0001 | a0001c0118t0002g0320 a0002c0034t0001g0384 |
2 | 403 | 0.0050 | -79 | c.164 others(96): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NARF_chr17_82453741_82495537 | 82466836 | CTCTCTTA others(72): Show |
C | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 356 | 0.0028 | -79 | c.253 others(96): Show |
NARF | ENSG00000141562.19 | transcript | ENST00000309794.16 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NEMP2_chr2_190499338_190539722 | 190534838 | GCGGCCTC others(72): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0015 | 1 | 404 | 0.0025 | -79 | c.-26 others(88): Show |
NEMP2 | ENSG00000189362.12 | transcript | ENST00000409150.8 | protein_coding | 117 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807339 | TCCCCCCT others(72): Show |
T | upstream_gene_variant | MODIFIER | HG01261.hp2 NA18980.hp1 NA19000.hp1 |
a0001 | a0001c0002a0001c0004a0001c0015 | a0001c0002t0001a0001c0004t0001a0001c0015t0001 | a0001c0002t0001g0079 a0001c0004t0001g0067 a0001c0015t0001g0052 |
3 | 319 | 0.0094 | -79 | c.-19 others(90): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1853 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807697 | TCCCCCCT others(72): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 319 | 0.0031 | -79 | c.-15 others(90): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1495 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807939 | TCCCCCCT others(72): Show |
T | upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 | 1 | 319 | 0.0031 | -79 | c.-13 others(90): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1253 | chr2 | TogoVar | |||||||
NFIC_chr19_3361583_3474217 | 3455525 | GTAGGATC others(72): Show |
G | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0028 | 1 | 300 | 0.0033 | -79 | c.142 others(97): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NGB_chr14_77260483_77276206 | 77269723 | TCTCTTCT others(72): Show |
T | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 366 | 0.0027 | -79 | c.90- others(92): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
NGB_chr14_77260483_77276206 | 77269725 | TCTTCTCT others(72): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG02451.hp2 HG02683.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0011a0005c0008t0001 | a0001c0001t0001g0028 a0001c0001t0001g0190 a0001c0001t0011g0064 others(1): Show |
5 | 366 | 0.0137 | -79 | c.90- others(92): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89438792 | GTATAATA others(72): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02622.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0017a0001c0001t0024others(9): Show | a0001c0001t0002g0252 a0001c0001t0017g0160 a0001c0001t0024g0155 others(11): Show |
14 | 288 | 0.0486 | -79 | c.475 others(96): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 6/17 | chr11 | TogoVar | |||||||
NRIP3_chr11_8975576_9009001 | 8978632 | GTCAGCCC others(72): Show |
G | downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 406 | 0.0025 | -79 | c.*48 others(90): Show |
NRIP3 | ENSG00000175352.12 | transcript | ENST00000309166.8 | protein_coding | 1943 | chr11 | TogoVar | |||||||
OAS2_chr12_112973519_113016723 | 112978286 | CAGTTTTG others(72): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02647.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0004a0001c0014 | a0001c0004t0003a0001c0014t0003 | a0001c0004t0003g0117 a0001c0004t0003g0118 a0001c0004t0003g0119 others(1): Show |
4 | 380 | 0.0105 | -79 | c.-32 others(88): Show |
OAS2 | ENSG00000111335.14 | transcript | ENST00000392583.7 | protein_coding | 232 | chr12 | TogoVar | |||||||
OCLN_chr5_69487790_69563104 | 69515446 | CGGGCAGA others(72): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 290 | 0.0035 | -79 | c.891 others(96): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133518651 | GTGGCGTG others(72): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0047 a0001c0001t0028g0059 |
2 | 68 | 0.0294 | -79 | c.61+ others(96): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31812719 | AAAGAAAG others(72): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0020 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0147 a0001c0001t0002g0097 a0001c0001t0002g0140 others(4): Show |
7 | 186 | 0.0376 | -79 | c.729 others(98): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3103744 | AACCCTCT others(72): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0152 | 1 | 326 | 0.0031 | -79 | c.124 others(96): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 10/21 | chr11 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31510705 | AACATACA others(72): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0186 | 1 | 244 | 0.0041 | -79 | c.894 others(96): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177946524 | CCGCCCGG others(72): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02055.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(9): Show | a0001c0001t0002g0079 a0001c0001t0005g0060 a0001c0001t0005g0062 others(10): Show |
13 | 170 | 0.0765 | -79 | c.107 others(100): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41402452 | CACACTCT others(72): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
a0001a0002 | a0001c0010a0002c0002 | a0001c0010t0001a0002c0002t0001 | a0001c0010t0001g0114 a0001c0010t0001g0121 a0001c0010t0001g0122 others(1): Show |
4 | 206 | 0.0194 | -79 | c.844 others(100): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7196215 | ATATATGT others(72): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004 a0001c0001t0008g0225 a0001c0001t0008g0226 |
8 | 428 | 0.0187 | -79 | c.449 others(96): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7196726 | TATAATGT others(72): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 2 | 428 | 0.0047 | -79 | c.449 others(96): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PI3_chr20_45169902_45181544 | 45177339 | GGAGGGGA others(72): Show |
G | downstream_gene_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 426 | 0.0024 | -79 | c.*97 others(89): Show |
PI3 | ENSG00000124102.5 | transcript | ENST00000243924.4 | protein_coding | 796 | chr20 | TogoVar | |||||||
PINX1_chr8_10759961_10844875 | 10805898 | GGGTGACA others(72): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0087 | 1 | 352 | 0.0028 | -79 | c.471 others(98): Show |
PINX1 | ENSG00000254093.9 | transcript | ENST00000314787.8 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100314965 | AGGAAGGA others(72): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG01099.hp1 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0009others(5): Show | a0001c0001t0001a0002c0003t0001a0002c0009t0001others(5): Show | a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 others(23): Show |
26 | 306 | 0.0850 | -79 | c.349 others(98): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKHD1L1_chr8_109357461_109542207 | 109383133 | TATTATTG others(72): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 282 | 0.0036 | -79 | c.417 others(94): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 4/77 | chr8 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401628 | CGGCCCCG others(72): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 216 | 0.0046 | -79 | c.173 others(97): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLCB3_chr11_64246530_64272923 | 64270898 | GAGACACA others(72): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01070.hp2 others(18): Show |
a0001 | a0001c0003a0001c0016a0001c0021 | a0001c0003t0001a0001c0003t0003a0001c0016t0001others(1): Show | a0001c0003t0001g0002 a0001c0003t0001g0007 a0001c0003t0001g0018 others(7): Show |
21 | 382 | 0.0550 | -79 | c.*33 others(90): Show |
PLCB3 | ENSG00000149782.13 | transcript | ENST00000279230.12 | protein_coding | 2976 | chr11 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988902 | GGGTGTGT others(72): Show |
G | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0270 | 1 | 278 | 0.0036 | -79 | c.*24 others(90): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2048 | chr7 | TogoVar | |||||||
PPP2R5A_chr1_212280410_212366853 | 212349621 | TTTGTTTT others(72): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0358 | 1 | 384 | 0.0026 | -79 | c.927 others(94): Show |
PPP2R5A | ENSG00000066027.12 | transcript | ENST00000261461.7 | protein_coding | 8/12 | chr1 | TogoVar | |||||||
PPP2R5C_chr14_101756709_101932977 | 101776213 | AAAATAAT others(72): Show |
A | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 138 | 0.0073 | -79 | c.94- others(94): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | chr14 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41806255 | CCATCACC others(72): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 |
a0001 | a0001c0009a0001c0058 | a0001c0009t0008a0001c0058t0042 | a0001c0009t0008g0296 a0001c0058t0042g0068 |
2 | 406 | 0.0049 | -79 | c.265 others(98): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3110376 | CGGCTCCC others(72): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00597.hp2 others(54): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(44): Show | a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0203 others(54): Show |
57 | 210 | 0.2714 | -79 | c.37+ others(96): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |