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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 58 | 0.0172 | 42 | c.859 others(59): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336 | 1 | 58 | 0.0172 | 42 | c.859 others(59): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12876296 | A | AAAGAAGA others(35): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18612.hp2 NA18951.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 others(9): Show |
12 | 81 | 0.1481 | 42 | c.69+ others(57): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 1/8 | chr18 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8557455 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0019 | 1 | 18 | 0.0556 | 42 | c.353 others(61): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 14/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8894356 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0024 | 1 | 34 | 0.0294 | 42 | c.-10 others(65): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9947491 | T | TATTATAT others(35): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0024a0001c0002t0001others(2): Show | a0001c0001t0002g0013 a0001c0001t0024g0032 a0001c0002t0001g0009 others(2): Show |
5 | 23 | 0.2174 | 42 | c.-47 others(61): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | |||||||
PTPRG_chr3_61556571_62302609 | 61738282 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp2 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0043 others(24): Show |
27 | 90 | 0.3000 | 42 | c.86- others(59): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61738282 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 64 | 0.0156 | 42 | c.86- others(59): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 62281538 | C | CTTTTTTT others(35): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0008 | 1 | 8 | 0.1250 | 42 | c.376 others(57): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRK_chr6_127963785_128525599 | 128524021 | A | ATATATCT others(35): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0002 | 1 | 49 | 0.0204 | 42 | c.-36 others(53): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 3423 | chr6 | TogoVar | |||||||
PTPRN_chr2_219284623_219314401 | 219294493 | A | AGACGGAG others(35): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01884.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0031 a0001c0001t0001g0074 a0001c0001t0001g0077 others(12): Show |
38 | 268 | 0.1418 | 42 | c.267 others(59): Show |
PTPRN | ENSG00000054356.14 | transcript | ENST00000295718.7 | protein_coding | 19/22 | chr2 | TogoVar | |||||||
PTPRN_chr2_219284623_219314401 | 219294493 | A | AGACGGAG others(35): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146 | 1 | 231 | 0.0043 | 42 | c.267 others(59): Show |
PTPRN | ENSG00000054356.14 | transcript | ENST00000295718.7 | protein_coding | 19/22 | chr2 | TogoVar | |||||||
PTPRQ_chr12_80439235_80685273 | 80558119 | C | CTTTCTTT others(35): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 62 | 0.0161 | 42 | c.428 others(61): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42086747 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG01243.hp1 NA19030.hp1 |
a0001 | a0001c0008a0001c0021 | a0001c0008t0001a0001c0021t0001 | a0001c0008t0001g0060 a0001c0021t0001g0053 |
2 | 49 | 0.0408 | 42 | c.384 others(59): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 27/30 | chr20 | TogoVar | |||||||
PUS10_chr2_60935223_61023255 | 60967193 | A | AATATTTG others(35): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0017 others(8): Show |
11 | 244 | 0.0451 | 42 | c.615 others(57): Show |
PUS10 | ENSG00000162927.14 | transcript | ENST00000316752.11 | protein_coding | 6/17 | chr2 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105455576 | A | AATATATA others(35): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 6 | 0.1667 | 42 | c.*22 others(53): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 926 | chr7 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160109782 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03239.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0007g0102 |
3 | 371 | 0.0081 | 42 | c.584 others(59): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160109784 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0109 |
2 | 370 | 0.0054 | 42 | c.584 others(59): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160109786 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 375 | 0.0027 | 42 | c.584 others(59): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160109788 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 379 | 0.0026 | 42 | c.584 others(59): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1658067 | T | TCCCTCCC others(35): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0012 | a0001c0012t0016 | a0001c0012t0016g0122 | 1 | 242 | 0.0041 | 42 | c.183 others(61): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 14/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1703465 | A | ACAACTCC others(35): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01515.hp1 HG02027.hp1 others(10): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(6): Show | a0001c0001t0001g0053 a0001c0001t0001g0269 a0001c0001t0002g0018 others(10): Show |
13 | 319 | 0.0408 | 42 | c.201 others(61): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1703987 | A | AGGGGGGC others(35): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0284 | 1 | 259 | 0.0039 | 42 | c.201 others(61): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PYDC2_chr3_191456163_191466456 | 191463020 | C | CTTTCTTT others(35): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 103 | 0.0097 | 42 | c.*15 others(53): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1565 | chr3 | TogoVar | |||||||
PYGB_chr20_25243085_25303012 | 25247993 | T | TCCCGAGG others(35): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0010 | a0004c0010t0008 | a0004c0010t0008g0253 | 1 | 341 | 0.0029 | 42 | c.-18 others(51): Show |
PYGB | ENSG00000100994.12 | transcript | ENST00000216962.9 | protein_coding | 91 | chr20 | TogoVar | |||||||
PYGB_chr20_25243085_25303012 | 25248020 | G | GCCCCGCC others(35): Show |
upstream_gene_variant | MODIFIER | NA18968.hp2 NA19072.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0237 a0002c0003t0001g0244 |
2 | 194 | 0.0103 | 42 | c.-15 others(51): Show |
PYGB | ENSG00000100994.12 | transcript | ENST00000216962.9 | protein_coding | 64 | chr20 | TogoVar | |||||||
QPCT_chr2_37339630_37378322 | 37347231 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 188 | 0.0053 | 42 | c.120 others(59): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 467921 | C | CCTCAGGG others(35): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(57): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0019others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(22): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0008 others(57): Show |
60 | 293 | 0.2048 | 42 | c.809 others(59): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 504468 | A | ACCCCCTC others(35): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0036 | 1 | 294 | 0.0034 | 42 | c.139 others(61): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504509 | A | ACCCCCTC others(35): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0102 | 1 | 278 | 0.0036 | 42 | c.139 others(59): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 522044 | T | TGTGTGCG others(35): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01167.hp1 others(7): Show |
a0001a0006 | a0001c0001a0001c0006a0006c0015 | a0001c0001t0013a0001c0001t0020a0001c0006t0059others(1): Show | a0001c0001t0013g0027 a0001c0001t0013g0030 a0001c0001t0013g0031 others(7): Show |
10 | 72 | 0.1389 | 42 | c.*12 others(53): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 14/14 | 1206 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 522044 | T | TGTGTGCG others(35): Show |
3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0001 | 2 | 64 | 0.0313 | 42 | c.*12 others(53): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 14/14 | 1206 | chr16 | TogoVar | ||||||
RAB20_chr13_110518066_110566722 | 110561766 | G | GCCCCGCC others(35): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 NA18982.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0002 a0001c0003t0001g0147 |
2 | 71 | 0.0282 | 42 | c.-24 others(51): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 45 | chr13 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55209772 | A | ATACACAC others(35): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0019 | 1 | 318 | 0.0031 | 42 | c.468 others(59): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 6/6 | chr15 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55209821 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03130.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0019 | a0001c0001t0013g0271 a0001c0001t0013g0277 a0001c0001t0019g0056 |
3 | 318 | 0.0094 | 42 | c.468 others(59): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 6/6 | chr15 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55241612 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02922.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0296 a0001c0001t0012g0301 a0001c0001t0012g0309 |
3 | 303 | 0.0099 | 42 | c.-22 others(59): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 2/6 | chr15 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55241624 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0304 | 1 | 270 | 0.0037 | 42 | c.-22 others(59): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 2/6 | chr15 | TogoVar | |||||||
RAB27B_chr18_54823477_54900516 | 54850333 | G | GACATATA others(35): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0161 | 1 | 35 | 0.0286 | 42 | c.-20 others(61): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB35_chr12_120090099_120121753 | 120110290 | A | ATTTTTTT others(35): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0294 | 1 | 30 | 0.0333 | 42 | c.53- others(57): Show |
RAB35 | ENSG00000111737.12 | transcript | ENST00000229340.10 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
RAB39B_chrX_155253235_155269491 | 155269437 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 279 | 0.0036 | 42 | c.-51 others(53): Show |
RAB39B | ENSG00000155961.5 | transcript | ENST00000369454.4 | protein_coding | 4947 | chrX | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58693336 | G | GTATGTAT others(35): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 112 | 0.0089 | 42 | c.253 others(61): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58845612 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0129 | 1 | 121 | 0.0083 | 42 | c.497 others(59): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58845612 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0210 | 1 | 121 | 0.0083 | 42 | c.497 others(59): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3IP_chr12_69733860_69828199 | 69820875 | A | ACCCAAAC others(35): Show |
3_prime_UTR_variant | MODIFIER | NA18993.hp1 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0013 | 2 | 400 | 0.0050 | 42 | c.*54 others(53): Show |
RAB3IP | ENSG00000127328.22 | transcript | ENST00000247833.12 | protein_coding | 11/11 | 5472 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAB44_chr6_36692826_36738184 | 36715102 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0066 | 1 | 314 | 0.0032 | 42 | c.320 others(57): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACACACA others(35): Show |
intron_variant | MODIFIER | NA19058.hp2 NA19063.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0045 a0001c0001t0002g0109 |
3 | 102 | 0.0294 | 42 | c.219 others(57): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACATACA others(35): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 100 | 0.0100 | 42 | c.219 others(57): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACATACA others(35): Show |
intron_variant | MODIFIER | HG03831.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0154 |
2 | 101 | 0.0198 | 42 | c.219 others(57): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACATACA others(35): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 100 | 0.0100 | 42 | c.219 others(57): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACATACA others(35): Show |
intron_variant | MODIFIER | NA18980.hp2 NA19065.hp1 NA19090.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0040 a0001c0001t0001g0166 a0002c0002t0001g0040 |
3 | 102 | 0.0294 | 42 | c.219 others(57): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |