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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(302): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0212 | 1 | 2 | 0.5000 | 309 | c.730 others(326): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(302): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0147 | 1 | 30 | 0.0333 | 309 | c.433 others(326): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(302): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0185 | 1 | 30 | 0.0333 | 309 | c.433 others(326): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NUDCD1_chr8_109235919_109339087 | 109337068 | T | TCATTTAA others(302): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 313 | 0.0032 | 309 | c.-30 others(320): Show |
NUDCD1 | ENSG00000120526.12 | transcript | ENST00000239690.9 | protein_coding | 2982 | chr8 | TogoVar | |||||||
NUP133_chr1_229435259_229513341 | 229486325 | A | AAAATAAA others(302): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0113 | 1 | 263 | 0.0038 | 309 | c.150 others(324): Show |
NUP133 | ENSG00000069248.12 | transcript | ENST00000261396.6 | protein_coding | 11/25 | chr1 | TogoVar | |||||||
NUP160_chr11_47773118_47853350 | 47785088 | T | TGAGTTTC others(302): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01192.hp1 HG02738.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0110 others(1): Show |
4 | 238 | 0.0168 | 309 | c.374 others(324): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 32/35 | chr11 | TogoVar | |||||||
NUP210L_chr1_153987690_154160073 | 154151282 | T | TTCATTGA others(302): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 227 | 0.0044 | 309 | c.340 others(326): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 2/39 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841381 | T | TGCATCTC others(302): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 188 | 0.0053 | 309 | c.361 others(328): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841407 | C | CCCCTGAC others(302): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 234 | 0.0043 | 309 | c.361 others(328): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841443 | T | TCCCCCCT others(302): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223 | 1 | 165 | 0.0061 | 309 | c.361 others(328): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841455 | C | CGGAGCAT others(302): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 221 | 0.0045 | 309 | c.361 others(328): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841484 | C | CCCCGACC others(302): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 171 | 0.0058 | 309 | c.361 others(328): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR4N2_chr14_19798770_19835253 | 19813844 | T | TTTTTTTT others(302): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01257.hp1 HG02071.hp2 others(22): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0005others(2): Show | a0001c0001t0025a0002c0002t0002a0002c0002t0010others(3): Show | a0001c0001t0025g0114 a0002c0002t0002g0011 a0002c0002t0002g0015 others(14): Show |
25 | 272 | 0.0919 | 309 | c.-10 others(328): Show |
OR4N2 | ENSG00000176294.6 | transcript | ENST00000557677.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PADI2_chr1_17061761_17124451 | 17114628 | T | TAAGAAAC others(302): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03209.hp1 HG03486.hp1 others(2): Show |
a0001a0008 | a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0003t0004a0001c0004t0026a0001c0005t0011others(2): Show | a0001c0003t0004g0345 a0001c0004t0026g0329 a0001c0005t0011g0330 others(2): Show |
5 | 338 | 0.0148 | 309 | c.92+ others(324): Show |
PADI2 | ENSG00000117115.13 | transcript | ENST00000375486.9 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45909853 | G | CCCACCCA others(302): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 157 | 0.0064 | 309 | c.471 others(321): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | chr21 | TogoVar | |||||||
PCDH11X_chrX_91774375_92628230 | 92550269 | T | TAAAAAGC others(302): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0134 |
2 | 151 | 0.0132 | 309 | c.336 others(330): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76280866 | T | TAAAAAAG others(302): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01884.hp1 others(4): Show |
a0004a0014a0026others(2): Show | a0004c0006a0004c0035a0014c0029others(3): Show | a0004c0006t0012a0004c0035t0047a0014c0029t0009others(3): Show | a0004c0006t0012g0143 a0004c0006t0012g0145 a0004c0035t0047g0123 others(4): Show |
7 | 141 | 0.0496 | 309 | c.314 others(330): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 285902 | T | TCCCAACC others(302): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0023 | a0023c0038 | a0023c0038t0002 | a0023c0038t0002g0046 | 1 | 406 | 0.0025 | 309 | c.111 others(326): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDSS1_chr10_26692701_26751798 | 26702234 | T | TGAGTTAA others(302): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02257.hp1 HG02280.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0011 a0001c0001t0001g0143 a0001c0001t0001g0144 others(8): Show |
12 | 411 | 0.0292 | 309 | c.162 others(322): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDSS1_chr10_26692701_26751798 | 26702234 | T | TGAGTTAA others(302): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03540.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 |
3 | 402 | 0.0075 | 309 | c.162 others(322): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PIGK_chr1_77083989_77224430 | 77168629 | T | TAAAATTG others(302): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0036 | 1 | 295 | 0.0034 | 309 | c.375 others(324): Show |
PIGK | ENSG00000142892.15 | transcript | ENST00000370812.8 | protein_coding | 4/10 | chr1 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34670506 | T | TTTTTTTT others(302): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 318 | 0.0031 | 309 | c.130 others(326): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 1/11 | chr20 | TogoVar | |||||||
PINX1_chr8_10759961_10844875 | 10781958 | T | TAAAGAAA others(302): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0089 | 1 | 342 | 0.0029 | 309 | c.472 others(328): Show |
PINX1 | ENSG00000254093.9 | transcript | ENST00000314787.8 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401552 | G | GCCCGCTC others(302): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0111 | 1 | 58 | 0.0172 | 309 | c.173 others(326): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401613 | G | GCCCCGCT others(302): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0073 | 1 | 199 | 0.0050 | 309 | c.173 others(326): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137517968 | T | TCACTCCA others(302): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0039 | 1 | 97 | 0.0103 | 309 | c.108 others(328): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137518209 | T | TCACTCCA others(302): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 | 1 | 184 | 0.0054 | 309 | c.108 others(328): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46227138 | A | AATGTGCT others(302): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0017a0001c0001t0057 | a0001c0001t0008g0040 a0001c0001t0017g0159 a0001c0001t0017g0194 others(1): Show |
4 | 174 | 0.0230 | 309 | c.712 others(326): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46227138 | A | AATGTGCT others(302): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0025a0001c0001t0064 | a0001c0001t0015g0058 a0001c0001t0015g0059 a0001c0001t0015g0079 others(2): Show |
5 | 175 | 0.0286 | 309 | c.712 others(326): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP1R21_chr2_48435766_48520386 | 48502400 | T | TAAAAAGA others(302): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0028 | a0001c0003t0028g0335 | 1 | 362 | 0.0028 | 309 | c.193 others(328): Show |
PPP1R21 | ENSG00000162869.16 | transcript | ENST00000294952.13 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKACA_chr19_14086688_14122762 | 14090084 | C | CCGGCGGC others(302): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0257 |
2 | 302 | 0.0066 | 309 | c.*30 others(320): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1603 | chr19 | TogoVar | |||||||
PRKACA_chr19_14086688_14122762 | 14090084 | C | CCGGCGGC others(302): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 a0001c0001t0001g0252 |
2 | 302 | 0.0066 | 309 | c.*30 others(320): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1603 | chr19 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2106871 | C | CCCTCCGG others(302): Show |
intron_variant | MODIFIER | HG03669.hp1 HG03669.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0233 a0001c0003t0001g0088 |
2 | 264 | 0.0076 | 309 | c.335 others(328): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122647 | G | GTCACAGC others(302): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 221 | 0.0045 | 309 | c.335 others(328): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CTTCCTCC others(302): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 73 | 0.0137 | 309 | c.*23 others(320): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141429985 | A | AGGACCAG others(302): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 322 | 0.0031 | 309 | c.405 others(324): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61909689 | A | ACTGAAGT others(302): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0016a0001c0019t0001 | a0001c0001t0016g0031 a0001c0019t0001g0069 |
2 | 94 | 0.0213 | 309 | c.191 others(328): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
QSOX2_chr9_136201333_136250812 | 136234723 | G | GGCTTGGG others(302): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0154 | 1 | 140 | 0.0071 | 309 | c.329 others(326): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
QSOX2_chr9_136201333_136250812 | 136234723 | G | GGCTTGGG others(302): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 140 | 0.0071 | 309 | c.329 others(326): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492363 | T | TCCCGGGA others(302): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 235 | 0.0043 | 309 | c.126 others(328): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(302): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 132 | 0.0076 | 309 | c.126 others(328): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB1A_chr2_65081854_65135106 | 65106651 | C | CAAAAATC others(302): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02809.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 a0001c0001t0003g0254 a0001c0001t0003g0255 |
3 | 159 | 0.0189 | 309 | c.24- others(324): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
RAB1A_chr2_65081854_65135106 | 65106651 | C | CAAAAATC others(302): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0230 |
3 | 159 | 0.0189 | 309 | c.24- others(324): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
RAB1A_chr2_65081854_65135106 | 65106651 | C | CAAAAATC others(302): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00735.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 others(38): Show |
41 | 197 | 0.2081 | 309 | c.24- others(324): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
RAB1A_chr2_65081854_65135106 | 65106651 | C | CAAAAATC others(302): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 a0001c0001t0001g0247 |
2 | 158 | 0.0127 | 309 | c.24- others(324): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
RAB1A_chr2_65081854_65135106 | 65106651 | C | CAAAAATC others(302): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0318 | 1 | 157 | 0.0064 | 309 | c.24- others(324): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
RALYL_chr8_84178274_84926844 | 84525029 | G | GCCTCAAT others(302): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0077 a0001c0001t0008g0027 |
2 | 71 | 0.0282 | 309 | c.-23 others(326): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAVER1_chr19_10311212_10338529 | 10337272 | C | CTGGGTGT others(302): Show |
upstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0258 | 1 | 380 | 0.0026 | 309 | c.-37 others(320): Show |
RAVER1 | ENSG00000161847.15 | transcript | ENST00000617231.5 | protein_coding | 3744 | chr19 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 6372940 | G | GTTGTGTA others(302): Show |
intron_variant | MODIFIER | HG03139.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0023 | a0001c0001t0011g0035 a0001c0001t0023g0047 |
2 | 44 | 0.0455 | 309 | c.-64 others(328): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6372940 | G | GTTGTGTA others(302): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(21): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0030 others(21): Show |
24 | 66 | 0.3636 | 309 | c.-64 others(328): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |