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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAQR5_chr15_69293912_69412780 | 69300948 | C | CTTCTTTC others(21): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0225 | 1 | 284 | 0.0035 | 28 | c.-27 others(47): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300948 | C | CTTCTTTC others(21): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0157 a0001c0001t0004g0002 |
2 | 284 | 0.0070 | 28 | c.-27 others(47): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322757 | A | AGAAGAGA others(21): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 284 | 0.0035 | 28 | c.-27 others(49): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69378264 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 284 | 0.0035 | 28 | c.52- others(43): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204899256 | C | CCCTCCCT others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0005 | a0005c0013 | a0005c0013t0003 | a0005c0013t0003g0002 | 1 | 54 | 0.0185 | 28 | c.223 others(47): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204899256 | C | CCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0050 | 1 | 54 | 0.0185 | 28 | c.223 others(47): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205165491 | G | GTTAACTC others(21): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG03130.hp2 others(1): Show |
a0001a0005 | a0001c0003a0005c0013 | a0001c0003t0008a0001c0003t0016a0005c0013t0001others(1): Show | a0001c0003t0008g0049 a0001c0003t0016g0046 a0005c0013t0001g0001 others(1): Show |
4 | 54 | 0.0741 | 28 | c.162 others(47): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205383105 | T | TAGATAGA others(21): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0021 | a0002c0021t0001 | a0002c0021t0001g0012 | 1 | 54 | 0.0185 | 28 | c.263 others(49): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34227854 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0001 | 1 | 100 | 0.0100 | 28 | c.341 others(49): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34227881 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0080 | 1 | 100 | 0.0100 | 28 | c.341 others(49): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34605692 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0014 | 1 | 100 | 0.0100 | 28 | c.223 others(47): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34605841 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0094 | 1 | 100 | 0.0100 | 28 | c.223 others(47): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34605933 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0094 | 1 | 100 | 0.0100 | 28 | c.223 others(47): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34666816 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0063 | 1 | 100 | 0.0100 | 28 | c.222 others(47): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD6G_chr18_80152232_80252514 | 80177972 | T | TACATACA others(21): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0193 | 1 | 382 | 0.0026 | 28 | c.296 others(47): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
PARD6G_chr18_80152232_80252514 | 80195548 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02040.hp1 HG03491.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001a0001c0002t0029 | a0001c0001t0005g0339 a0001c0002t0001g0133 a0001c0002t0001g0134 others(4): Show |
7 | 382 | 0.0183 | 28 | c.295 others(45): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
PARG_chr10_49813279_49947027 | 49891623 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0023 | 1 | 292 | 0.0034 | 28 | c.173 others(47): Show |
PARG | ENSG00000227345.9 | transcript | ENST00000616448.2 | protein_coding | 7/17 | chr10 | TogoVar | |||||||
PARG_chr10_49813279_49947027 | 49927369 | G | GGAAAGAA others(21): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 292 | 0.0034 | 28 | c.145 others(47): Show |
PARG | ENSG00000227345.9 | transcript | ENST00000616448.2 | protein_coding | 4/17 | chr10 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183882222 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 358 | 0.0028 | 28 | c.125 others(45): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARP14_chr3_122675839_122735840 | 122677565 | A | AAAAAAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 366 | 0.0027 | 28 | c.-33 others(39): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 3273 | chr3 | TogoVar | |||||||
PARP15_chr3_122572650_122644047 | 122579999 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0020 | 1 | 356 | 0.0028 | 28 | c.186 others(45): Show |
PARP15 | ENSG00000173200.13 | transcript | ENST00000464300.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PARP15_chr3_122572650_122644047 | 122593120 | C | CTATCTAT others(21): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01255.hp2 HG01993.hp2 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0022a0002c0002t0003others(7): Show | a0001c0001t0001g0061 a0001c0001t0001g0108 a0001c0001t0022g0155 others(12): Show |
15 | 356 | 0.0421 | 28 | c.187 others(47): Show |
PARP15 | ENSG00000173200.13 | transcript | ENST00000464300.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PARP15_chr3_122572650_122644047 | 122601036 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0005 | a0005c0005t0015 | a0005c0005t0015g0288 | 1 | 356 | 0.0028 | 28 | c.187 others(45): Show |
PARP15 | ENSG00000173200.13 | transcript | ENST00000464300.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PARP16_chr15_65253099_65291883 | 65269176 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03710.hp1 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0188 a0001c0001t0002g0228 a0001c0001t0017g0206 |
3 | 316 | 0.0095 | 28 | c.312 others(45): Show |
PARP16 | ENSG00000138617.16 | transcript | ENST00000649807.2 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
PARP16_chr15_65253099_65291883 | 65290933 | A | AATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 316 | 0.0032 | 28 | c.-45 others(39): Show |
PARP16 | ENSG00000138617.16 | transcript | ENST00000649807.2 | protein_coding | 4051 | chr15 | TogoVar | |||||||
PARP2_chr14_20338635_20362904 | 20347356 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 420 | 0.0024 | 28 | c.324 others(43): Show |
PARP2 | ENSG00000129484.14 | transcript | ENST00000429687.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PARP4_chr13_24415931_24517778 | 24455480 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18964.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 a0002c0002t0001g0109 |
2 | 362 | 0.0055 | 28 | c.256 others(45): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 21/33 | chr13 | TogoVar | |||||||
PARP4_chr13_24415931_24517778 | 24455506 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0347 | 1 | 362 | 0.0028 | 28 | c.256 others(45): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 21/33 | chr13 | TogoVar | |||||||
PARP8_chr5_50661637_50851519 | 50667520 | G | GCGGCGGC others(21): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0031a0001c0007t0029a0001c0007t0030 | a0001c0001t0031g0004 a0001c0007t0029g0006 a0001c0007t0030g0005 |
3 | 328 | 0.0092 | 28 | c.91+ others(41): Show |
PARP8 | ENSG00000151883.20 | transcript | ENST00000281631.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PARP8_chr5_50661637_50851519 | 50754116 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18960.hp2 NA18988.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0264 a0001c0001t0001g0293 a0001c0001t0001g0306 others(1): Show |
4 | 328 | 0.0122 | 28 | c.184 others(45): Show |
PARP8 | ENSG00000151883.20 | transcript | ENST00000281631.10 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PARP8_chr5_50661637_50851519 | 50754144 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA18947.hp2 NA19055.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0231 a0001c0003t0001g0232 |
2 | 328 | 0.0061 | 28 | c.184 others(45): Show |
PARP8 | ENSG00000151883.20 | transcript | ENST00000281631.10 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PARP8_chr5_50661637_50851519 | 50754150 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0027 | 1 | 328 | 0.0031 | 28 | c.184 others(45): Show |
PARP8 | ENSG00000151883.20 | transcript | ENST00000281631.10 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151645904 | T | TTTGTTTT others(21): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01071.hp1 others(12): Show |
a0001a0003a0009 | a0001c0002a0001c0003a0003c0012others(1): Show | a0001c0002t0002a0001c0002t0006a0001c0003t0002others(5): Show | a0001c0002t0002g0068 a0001c0002t0002g0119 a0001c0002t0002g0163 others(12): Show |
15 | 221 | 0.0679 | 28 | c.630 others(45): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151653868 | C | CTCCCTCC others(21): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 221 | 0.0045 | 28 | c.717 others(45): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151653868 | C | CTCCCTCC others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01081.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0146 others(3): Show |
6 | 221 | 0.0272 | 28 | c.717 others(45): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151653868 | C | CTCCCTCC others(21): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01981.hp2 HG02027.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0003t0003 | a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0015g0001 others(2): Show |
5 | 221 | 0.0226 | 28 | c.717 others(45): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151653868 | C | CTCCCTCC others(21): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 221 | 0.0045 | 28 | c.717 others(45): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151653868 | C | CTCCCTCT others(21): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0076 | 1 | 221 | 0.0045 | 28 | c.717 others(45): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61871465 | A | ATGTATAT others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02622.hp2 HG03710.hp1 |
a0003a0010a0042 | a0003c0055a0010c0015a0042c0089 | a0003c0055t0004a0010c0015t0002a0042c0089t0004 | a0003c0055t0004g0087 a0010c0015t0002g0155 a0042c0089t0004g0066 |
3 | 158 | 0.0190 | 28 | c.283 others(47): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 20/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61886819 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0044 | 1 | 158 | 0.0063 | 28 | c.313 others(47): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 22/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61952253 | T | TGAGAGAG others(21): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0005 | a0005c0072 | a0005c0072t0036 | a0005c0072t0036g0042 | 1 | 158 | 0.0063 | 28 | c.367 others(49): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61997982 | T | TTTTATAT others(21): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0055 | a0055c0066 | a0055c0066t0001 | a0055c0066t0001g0131 | 1 | 158 | 0.0063 | 28 | c.386 others(47): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 28/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62086228 | A | ATGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03041.hp2 HG03130.hp1 |
a0001a0052a0053 | a0001c0021a0052c0019a0053c0065 | a0001c0021t0001a0052c0019t0001a0053c0065t0033 | a0001c0021t0001g0113 a0052c0019t0001g0141 a0053c0065t0033g0043 |
3 | 158 | 0.0190 | 28 | c.437 others(47): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62106158 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0007 | a0007c0107 | a0007c0107t0003 | a0007c0107t0003g0033 | 1 | 158 | 0.0063 | 28 | c.437 others(47): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62106158 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01516.hp2 |
a0017a0031 | a0017c0018a0031c0131 | a0017c0018t0004a0031c0131t0004 | a0017c0018t0004g0062 a0031c0131t0004g0086 |
2 | 158 | 0.0127 | 28 | c.437 others(47): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62106158 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0005 | a0005c0117 | a0005c0117t0002 | a0005c0117t0002g0060 | 1 | 158 | 0.0063 | 28 | c.437 others(47): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59632760 | A | ATATATCT others(21): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0005 | a0001c0001t0005g0037 a0001c0002t0005g0014 a0001c0002t0005g0038 others(1): Show |
5 | 276 | 0.0181 | 28 | c.*56 others(39): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3955 | chr11 | TogoVar | |||||||
PATL1_chr11_59631716_59674037 | 59652064 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 2 | 276 | 0.0073 | 28 | c.142 others(45): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 11/18 | chr11 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721333 | C | CATATATA others(21): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008 | 8 | 400 | 0.0200 | 28 | c.*67 others(39): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 2853 | chr20 | TogoVar | |||||||
PAX3_chr2_222194887_222303998 | 222255149 | G | GTTCTGTT others(21): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 328 | 0.0031 | 28 | c.587 others(47): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar |