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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDSS2_chr6_107147562_107464564 | 107442428 | AAAAAAAC | A | intron_variant | MODIFIER | HG02717.hp2 HG02723.hp2 HG02896.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0206 others(7): Show |
10 | 260 | 0.0385 | -7 | c.296 others(26): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDX1_chr13_27915000_27931313 | 27919682 | GGAAAATA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(50): Show |
a0001a0010 | a0001c0001a0010c0015 | a0001c0001t0002a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0023 others(3): Show |
53 | 434 | 0.1221 | -7 | c.-45 others(16): Show |
PDX1 | ENSG00000139515.6 | transcript | ENST00000381033.5 | protein_coding | 317 | chr13 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43718828 | GGCGGGGC | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(266): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(92): Show | a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0037 others(266): Show |
269 | 358 | 0.7514 | -7 | c.-46 others(16): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 300 | chr21 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43738418 | CCTGTATT | C | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0036 | a0001c0001t0022g0351 a0001c0001t0022g0352 a0001c0001t0036g0341 others(1): Show |
4 | 358 | 0.0112 | -7 | c.143 others(24): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | chr21 | TogoVar | |||||||
PDZD11_chrX_70281595_70294927 | 70283715 | ACCTTAGT | A | downstream_gene_variant | MODIFIER | NA19076.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0031 | 1 | 310 | 0.0032 | -7 | c.*33 others(18): Show |
PDZD11 | ENSG00000120509.12 | transcript | ENST00000239666.9 | protein_coding | 2879 | chrX | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 31697900 | ATCATTTT | A | intron_variant | MODIFIER | HG02622.hp2 HG02818.hp2 |
a0001a0006 | a0001c0010a0006c0016 | a0001c0010t0015a0006c0016t0001 | a0001c0010t0015g0199 a0006c0016t0001g0061 |
2 | 216 | 0.0093 | -7 | c.-36 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31740524 | CAAAAAAA | C | intron_variant | MODIFIER | HG00673.hp1 HG01069.hp2 HG01074.hp2 others(35): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0022others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(24): Show | a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0086 others(35): Show |
38 | 216 | 0.1759 | -7 | c.-36 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31821064 | TCTCCTTA | T | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 |
a0002a0008 | a0002c0002a0008c0020 | a0002c0002t0002a0008c0020t0001 | a0002c0002t0002g0144 a0008c0020t0001g0188 |
2 | 216 | 0.0093 | -7 | c.476 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | chr5 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 31864839 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00735.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0002others(16): Show | a0001c0001t0001g0162 a0001c0001t0003g0009 a0001c0005t0002g0100 others(17): Show |
20 | 216 | 0.0926 | -7 | c.476 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31865621 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00597.hp1 others(39): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0034others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0037 a0001c0001t0001g0083 a0001c0001t0001g0098 others(39): Show |
42 | 216 | 0.1944 | -7 | c.476 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31956758 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG01099.hp2 others(8): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0018a0001c0010t0015others(6): Show | a0001c0001t0001g0098 a0001c0001t0001g0194 a0001c0001t0018g0128 others(8): Show |
11 | 216 | 0.0509 | -7 | c.477 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31969509 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG01243.hp1 others(8): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0018others(7): Show | a0001c0001t0001g0194 a0001c0001t0005g0010 a0001c0001t0018g0128 others(8): Show |
11 | 216 | 0.0509 | -7 | c.477 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31975800 | TTTATTTA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(80): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0007others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0052 others(80): Show |
83 | 216 | 0.3843 | -7 | c.477 others(24): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 32003170 | CACACCAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00597.hp1 others(61): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0059 others(61): Show |
64 | 216 | 0.2963 | -7 | c.125 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 32084948 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02622.hp2 others(2): Show |
a0006a0034 | a0006c0015a0006c0016a0034c0055 | a0006c0015t0040a0006c0015t0046a0006c0016t0001others(2): Show | a0006c0015t0040g0213 a0006c0015t0046g0005 a0006c0016t0001g0061 others(2): Show |
5 | 216 | 0.0232 | -7 | c.368 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117278643 | TGTGTTTG | T | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG03139.hp2 |
a0001a0006 | a0001c0009a0006c0007 | a0001c0009t0045a0006c0007t0066a0006c0007t0067 | a0001c0009t0045g0012 a0006c0007t0066g0321 a0006c0007t0067g0320 |
3 | 322 | 0.0093 | -7 | c.*46 others(18): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 5/5 | 4618 | chr10 | TogoVar | ||||||
PDZK1_chr1_145665985_145712368 | 145697763 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(101): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0006 | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(94): Show |
104 | 322 | 0.3230 | -7 | c.-3+ others(22): Show |
PDZK1 | ENSG00000174827.14 | transcript | ENST00000417171.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73449968 | GCACACGC | G | intron_variant | MODIFIER | NA18948.hp2 NA18978.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0001 | a0001c0002t0002g0067 a0002c0003t0001g0087 |
2 | 216 | 0.0093 | -7 | c.919 others(26): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73551688 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0014t0001 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0002g0036 others(3): Show |
6 | 216 | 0.0278 | -7 | c.918 others(26): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41238707 | TTAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(140): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0010others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(140): Show |
143 | 206 | 0.6942 | -7 | c.843 others(26): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41322487 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG02148.hp1 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0008others(5): Show | a0001c0001t0001a0002c0002t0002a0002c0008t0001others(5): Show | a0001c0001t0001g0042 a0002c0002t0002g0164 a0002c0002t0002g0170 others(7): Show |
10 | 206 | 0.0485 | -7 | c.843 others(28): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41555052 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 NA18906.hp1 others(4): Show |
a0001a0003a0005others(2): Show | a0001c0034a0003c0040a0005c0007others(4): Show | a0001c0034t0003a0003c0040t0001a0005c0007t0001others(4): Show | a0001c0034t0003g0037 a0003c0040t0001g0075 a0005c0007t0001g0180 others(4): Show |
7 | 206 | 0.0340 | -7 | c.130 others(24): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEA15_chr1_160200384_160220372 | 160201078 | CTAACCCA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(64): Show |
363 | 372 | 0.9758 | -7 | c.-44 others(18): Show |
PEA15 | ENSG00000162734.13 | transcript | ENST00000360472.9 | protein_coding | 4305 | chr1 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77112697 | ACACACAC | A | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01167.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0210 a0002c0002t0012g0211 a0002c0002t0012g0278 others(2): Show |
5 | 326 | 0.0153 | -7 | c.*14 others(18): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 10/10 | 1452 | chr15 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77162493 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00621.hp2 others(61): Show |
a0003a0009 | a0003c0003a0003c0008a0009c0020 | a0003c0003t0002a0003c0003t0006a0003c0003t0014others(9): Show | a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0117 others(61): Show |
64 | 326 | 0.1963 | -7 | c.313 others(26): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 7/9 | chr15 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77226053 | ATATATAT | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00621.hp2 others(34): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0003c0008others(1): Show | a0001c0001t0037a0001c0001t0053a0003c0003t0002others(10): Show | a0001c0001t0037g0262 a0001c0001t0053g0259 a0003c0003t0002g0114 others(34): Show |
37 | 326 | 0.1135 | -7 | c.-11 others(28): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
PEAR1_chr1_156888718_156921429 | 156911069 | CTTTCTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG02615.hp2 HG02886.hp1 others(2): Show |
a0004 | a0004c0019a0004c0053 | a0004c0019t0001a0004c0053t0004 | a0004c0019t0001g0049 a0004c0019t0001g0050 a0004c0053t0004g0236 |
5 | 384 | 0.0130 | -7 | c.195 others(24): Show |
PEAR1 | ENSG00000187800.14 | transcript | ENST00000292357.8 | protein_coding | 15/22 | chr1 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22798716 | CTTTTCTT | C | intron_variant | MODIFIER | HG02080.hp1 HG02080.hp2 HG02155.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0002a0002c0002t0002a0003c0008t0006 | a0001c0001t0002g0170 a0001c0001t0002g0193 a0002c0002t0002g0197 others(2): Show |
5 | 278 | 0.0180 | -7 | c.357 others(26): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PECR_chr2_216033388_216086809 | 216054371 | CTTTTTTT | C | intron_variant | MODIFIER | HG01975.hp2 HG02055.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0212 a0001c0001t0001g0213 others(4): Show |
7 | 398 | 0.0176 | -7 | c.507 others(24): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 4/7 | chr2 | TogoVar | |||||||
PECR_chr2_216033388_216086809 | 216061311 | CAAAAAAA | C | intron_variant | MODIFIER | HG00597.hp2 HG01255.hp1 HG03688.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0006 | a0002c0002t0002a0003c0006t0001 | a0002c0002t0002g0060 a0002c0002t0002g0122 a0002c0002t0002g0239 others(3): Show |
6 | 398 | 0.0151 | -7 | c.425 others(24): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 3/7 | chr2 | TogoVar | |||||||
PEF1_chr1_31624866_31649876 | 31648130 | GAAAAAAA | G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG02572.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0016 others(3): Show |
15 | 346 | 0.0434 | -7 | c.-32 others(18): Show |
PEF1 | ENSG00000162517.13 | transcript | ENST00000373703.5 | protein_coding | 3255 | chr1 | TogoVar | |||||||
PELI2_chr14_56113411_56306524 | 56197915 | AGACACAC | A | intron_variant | MODIFIER | HG01175.hp1 HG02886.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0005a0001c0007t0005 | a0001c0001t0003g0157 a0001c0001t0005g0332 a0001c0007t0005g0159 |
3 | 368 | 0.0082 | -7 | c.207 others(26): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
PELI2_chr14_56113411_56306524 | 56227618 | GTAGTCTC | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(125): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 others(124): Show |
128 | 368 | 0.3478 | -7 | c.207 others(26): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PELP1_chr17_4664774_4709137 | 4668975 | TATATATA | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG01258.hp2 others(6): Show |
a0002 | a0002c0003a0002c0023 | a0002c0003t0003a0002c0023t0003 | a0002c0003t0003g0231 a0002c0003t0003g0232 a0002c0003t0003g0233 others(6): Show |
9 | 316 | 0.0285 | -7 | c.*24 others(18): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 798 | chr17 | TogoVar | |||||||
PELP1_chr17_4664774_4709137 | 4705421 | TAAAGTAA | T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01943.hp1 HG02027.hp1 others(26): Show |
a0001a0004a0007others(2): Show | a0001c0001a0001c0038a0004c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0038t0002others(4): Show | a0001c0001t0001g0194 a0001c0001t0002g0251 a0001c0001t0002g0252 others(26): Show |
29 | 316 | 0.0918 | -7 | c.-13 others(18): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 1285 | chr17 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33393229 | CCCGGGGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(71): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0013others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0013t0002others(3): Show | a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0270 others(71): Show |
74 | 314 | 0.2357 | -7 | c.968 others(24): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 12/14 | chr19 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33393231 | CGGGGTCT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(76): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0016a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0022 others(73): Show |
79 | 314 | 0.2516 | -7 | c.968 others(24): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 12/14 | chr19 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33399622 | TGGCTGAG | T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00621.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0005 a0001c0001t0001g0291 a0001c0001t0001g0292 others(4): Show |
8 | 314 | 0.0255 | -7 | c.967 others(24): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 12/14 | chr19 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33424994 | AAACAAAC | A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(61): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(2): Show | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0078 others(61): Show |
64 | 314 | 0.2038 | -7 | c.672 others(26): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33449756 | GCGGTGTC | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(187): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0044 others(184): Show |
190 | 314 | 0.6051 | -7 | c.671 others(26): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33517560 | AAAAAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01074.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0014 | a0001c0001t0001a0002c0002t0002a0002c0014t0002 | a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 others(8): Show |
11 | 314 | 0.0350 | -7 | c.17+ others(22): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 1/14 | chr19 | TogoVar | |||||||
PER1_chr17_8135472_8157404 | 8149207 | CAAAAACA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(116): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(50): Show |
119 | 426 | 0.2793 | -7 | c.905 others(20): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 7/22 | chr17 | TogoVar | |||||||
PER2_chr2_238239044_238293610 | 238245042 | TAAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG02735.hp2 HG02970.hp1 others(8): Show |
a0001a0004a0017 | a0001c0001a0004c0008a0017c0015 | a0001c0001t0007a0001c0001t0027a0004c0008t0007others(1): Show | a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0007g0152 others(7): Show |
11 | 370 | 0.0297 | -7 | c.*13 others(18): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 23/23 | 1326 | chr2 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7815991 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00738.hp2 others(31): Show |
a0002a0004a0005 | a0002c0002a0004c0006a0005c0027 | a0002c0002t0001a0004c0006t0001a0005c0027t0014 | a0002c0002t0001g0009 a0002c0002t0001g0188 a0004c0006t0001g0003 others(29): Show |
34 | 410 | 0.0829 | -7 | c.152 others(26): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PET117_chr20_18132863_18148169 | 18141040 | TTTTTTTA | T | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00609.hp1 others(39): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0024 others(21): Show |
42 | 424 | 0.0991 | -7 | c.97- others(22): Show |
PET117 | ENSG00000232838.4 | transcript | ENST00000432901.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PEX11B_chr1_145906350_145923717 | 145913029 | AGTGAGCC | A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00642.hp2 others(108): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 others(10): Show |
111 | 368 | 0.3016 | -7 | c.375 others(22): Show |
PEX11B | ENSG00000131779.11 | transcript | ENST00000369306.8 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
PEX14_chr1_10469950_10635758 | 10503300 | AAAAAAAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(61): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(8): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(60): Show |
64 | 258 | 0.2481 | -7 | c.84+ others(22): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10511085 | GCAGAGCT | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(53): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(6): Show | a0001c0001t0001g0093 a0001c0001t0001g0179 a0001c0002t0001g0001 others(52): Show |
56 | 258 | 0.2171 | -7 | c.84+ others(24): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
PEX14_chr1_10469950_10635758 | 10577562 | ATTTTTTT | A | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG03098.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0126 others(4): Show |
7 | 258 | 0.0271 | -7 | c.170 others(26): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10581746 | TTAATTTA | T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(48): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(48): Show |
51 | 258 | 0.1977 | -7 | c.170 others(26): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |