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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRIMA1_chr14_93713298_93793485 | 93734670 | G | GGAAGAAG others(87): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 397 | 0.0025 | 94 | c.359 others(111): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
PRIMA1_chr14_93713298_93793485 | 93737502 | C | CAACAGAG others(87): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0190 | 1 | 397 | 0.0025 | 94 | c.230 others(109): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 3/4 | chr14 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23981994 | T | TTCCCTTT others(87): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0062 | 1 | 148 | 0.0068 | 94 | c.206 others(111): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2121905 | G | GTTAGGAT others(87): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 286 | 0.0035 | 94 | c.335 others(113): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122307 | G | GTAGTTAG others(87): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 286 | 0.0035 | 94 | c.335 others(113): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122994 | G | GATCATGG others(87): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 286 | 0.0035 | 94 | c.335 others(113): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162011153 | T | TATATATT others(87): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0007 | a0002c0007t0013 | a0002c0007t0013g0018 | 1 | 32 | 0.0313 | 94 | c.619 others(113): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133808 | C | CCACCTCC others(87): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 227 | 0.0044 | 94 | c.*23 others(105): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2096 | chr19 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36350946 | A | ATTTATAT others(87): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 272 | 0.0037 | 94 | c.-12 others(115): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRSS33_chr16_2778953_2792560 | 2787264 | C | CTCACCCC others(87): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0078 | 1 | 386 | 0.0026 | 94 | c.-58 others(109): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
PTK6_chr20_63523001_63542376 | 63535794 | T | TCCTCACC others(87): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0102 | 1 | 344 | 0.0029 | 94 | c.231 others(109): Show |
PTK6 | ENSG00000101213.7 | transcript | ENST00000542869.3 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8344960 | T | TAACATTC others(87): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0013 | a0001c0013t0016 | a0001c0013t0016g0028 | 1 | 34 | 0.0294 | 94 | c.466 others(113): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 39/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8929731 | G | GTGTATAT others(87): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 34 | 0.0294 | 94 | c.-10 others(115): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8934508 | T | TTTATATA others(87): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0030 | 1 | 34 | 0.0294 | 94 | c.-10 others(115): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
QPCT_chr2_37339630_37378322 | 37347170 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0056 | 1 | 442 | 0.0023 | 94 | c.120 others(111): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37347196 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0061 | 1 | 442 | 0.0023 | 94 | c.120 others(111): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37347196 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18969.hp1 NA18983.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0046 a0001c0001t0001g0090 a0003c0004t0002g0053 |
3 | 442 | 0.0068 | 94 | c.120 others(111): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57399056 | A | ACTTCACA others(87): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0326 | 1 | 336 | 0.0030 | 94 | c.-10 others(113): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 1/23 | chr12 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 468198 | A | AGGGGCGT others(87): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0012 | a0001c0012t0059 | a0001c0012t0059g0107 | 1 | 295 | 0.0034 | 94 | c.809 others(111): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492486 | C | CTTCCCGG others(87): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0194 | 1 | 295 | 0.0034 | 94 | c.126 others(113): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504129 | C | CTTGCCTC others(87): Show |
intron_variant | MODIFIER | NA19004.hp2 NA19012.hp2 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011a0001c0001t0051 | a0001c0001t0008g0063 a0001c0001t0011g0179 a0001c0001t0051g0064 |
3 | 295 | 0.0102 | 94 | c.139 others(113): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 504249 | T | TCCTCCTG others(87): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02109.hp2 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0019a0001c0002t0043 | a0001c0002t0019g0106 a0001c0002t0019g0285 a0001c0002t0043g0025 |
3 | 295 | 0.0102 | 94 | c.139 others(113): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504279 | C | CTCCCATC others(87): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 295 | 0.0034 | 94 | c.139 others(113): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 504279 | C | CTCCCATC others(87): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0020 | 1 | 295 | 0.0034 | 94 | c.139 others(113): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55241600 | T | TTCTTTAT others(87): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 320 | 0.0031 | 94 | c.-22 others(111): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 2/6 | chr15 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55241600 | T | TTCTTTAT others(87): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 320 | 0.0031 | 94 | c.-22 others(111): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 2/6 | chr15 | TogoVar | |||||||
RAB39A_chr11_107923448_107968482 | 107946308 | C | CTATATAT others(87): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0394 | 1 | 406 | 0.0025 | 94 | c.228 others(113): Show |
RAB39A | ENSG00000179331.3 | transcript | ENST00000320578.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB6B_chr3_133819235_133900882 | 133884911 | T | TATATATC others(87): Show |
intron_variant | MODIFIER | HG03486.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0085 | a0001c0001t0013g0276 a0001c0001t0085g0287 |
2 | 386 | 0.0052 | 94 | c.70+ others(111): Show |
RAB6B | ENSG00000154917.11 | transcript | ENST00000285208.9 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
RAD17_chr5_69364818_69419801 | 69377588 | T | TATATATG others(87): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129 | 1 | 359 | 0.0028 | 94 | c.351 others(111): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAD17_chr5_69364818_69419801 | 69377594 | T | TATGCATA others(87): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 359 | 0.0028 | 94 | c.351 others(111): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAD52_chr12_906736_954694 | 952995 | A | AGGGGGAA others(87): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG02683.hp2 HG03669.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0007a0002c0003t0012a0002c0003t0049 | a0002c0003t0007g0036 a0002c0003t0012g0031 a0002c0003t0012g0033 others(2): Show |
5 | 400 | 0.0125 | 94 | c.-34 others(105): Show |
RAD52 | ENSG00000002016.18 | transcript | ENST00000358495.8 | protein_coding | 3302 | chr12 | TogoVar | |||||||
RAE1_chr20_57346255_57384202 | 57350849 | C | CGGGGGGC others(87): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0008 | 1 | 342 | 0.0029 | 94 | c.-58 others(103): Show |
RAE1 | ENSG00000101146.13 | transcript | ENST00000395841.7 | protein_coding | 405 | chr20 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660352 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0286 | 1 | 372 | 0.0027 | 94 | c.-14 others(113): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660352 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0283 | 1 | 372 | 0.0027 | 94 | c.-14 others(113): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660352 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG01952.hp1 HG04115.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0002 | a0001c0002t0001g0279 a0002c0001t0002g0159 |
2 | 372 | 0.0054 | 94 | c.-14 others(113): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660352 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01099.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0275 a0001c0002t0002g0276 |
2 | 372 | 0.0054 | 94 | c.-14 others(113): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660352 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG01256.hp1 NA19070.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0258 a0002c0001t0001g0257 |
2 | 372 | 0.0054 | 94 | c.-14 others(113): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660352 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18971.hp2 |
a0002a0004 | a0002c0001a0004c0015 | a0002c0001t0001a0004c0015t0001 | a0002c0001t0001g0246 a0004c0015t0001g0245 |
2 | 372 | 0.0054 | 94 | c.-14 others(113): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660352 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG01168.hp1 NA18970.hp1 |
a0001 | a0001c0003a0001c0029 | a0001c0003t0001a0001c0029t0001 | a0001c0003t0001g0223 a0001c0029t0001g0224 |
2 | 372 | 0.0054 | 94 | c.-14 others(113): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RAP1GAP_chr1_21591221_21674357 | 21660352 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0213 | 1 | 372 | 0.0027 | 94 | c.-14 others(113): Show |
RAP1GAP | ENSG00000076864.21 | transcript | ENST00000374765.9 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 113974180 | C | CTGGGGCG others(87): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG03471.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0015t0001g0042 |
3 | 67 | 0.0448 | 94 | c.*51 others(105): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3602 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 113974274 | T | TTGGGGCG others(87): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0026 | 1 | 67 | 0.0149 | 94 | c.*50 others(105): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3508 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 113974368 | T | TTGGGGCG others(87): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 67 | 0.0149 | 94 | c.*49 others(105): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3414 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114044393 | C | CGCCTCAC others(87): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 67 | 0.0149 | 94 | c.278 others(111): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099636 | C | CCCCCACA others(87): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0042 | 1 | 67 | 0.0149 | 94 | c.56- others(111): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASAL3_chr19_15446624_15469544 | 15469460 | A | AGTGACCC others(87): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0011 | a0003c0011t0005 | a0003c0011t0005g0208 | 1 | 384 | 0.0026 | 94 | c.-50 others(105): Show |
RASAL3 | ENSG00000105122.13 | transcript | ENST00000343625.12 | protein_coding | 4917 | chr19 | TogoVar | |||||||
RB1_chr13_48298751_48486890 | 48459888 | T | TTCTTTTC others(87): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 306 | 0.0033 | 94 | c.210 others(109): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 20/26 | chr13 | TogoVar | |||||||
RBBP9_chr20_18481540_18502225 | 18486151 | A | AATATATA others(87): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01358.hp2 NA18992.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0022 | a0001c0001t0015g0056 a0001c0001t0015g0142 a0001c0001t0022g0057 |
4 | 454 | 0.0088 | 94 | c.*36 others(105): Show |
RBBP9 | ENSG00000089050.16 | transcript | ENST00000337227.9 | protein_coding | 388 | chr20 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 6859187 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0045 | 1 | 68 | 0.0147 | 94 | c.-15 others(115): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7683010 | G | GTATATAT others(87): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0051 | 1 | 68 | 0.0147 | 94 | c.995 others(111): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |