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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPRM_chr18_7562316_8411856 | 8289567 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02896.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0004 | a0001c0002t0001g0065 a0001c0005t0004g0068 |
2 | 80 | 0.0250 | 48 | c.275 others(67): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRQ_chr12_80439235_80685273 | 80558111 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0028 | a0028c0067 | a0028c0067t0002 | a0028c0067t0002g0004 | 1 | 178 | 0.0056 | 48 | c.428 others(67): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42086753 | A | AAAATATA others(41): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0004 | a0002c0004t0024 | a0002c0004t0024g0006 | 1 | 62 | 0.0161 | 48 | c.384 others(65): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 27/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42633972 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0025 | a0001c0025t0015 | a0001c0025t0015g0028 | 1 | 62 | 0.0161 | 48 | c.115 others(69): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 7/30 | chr20 | TogoVar | |||||||
PUDP_chrX_7043920_7153153 | 7098835 | G | GGGCCAAG others(41): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01070.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0002c0003t0002 | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0166 others(8): Show |
11 | 260 | 0.0423 | 48 | c.280 others(65): Show |
PUDP | ENSG00000130021.15 | transcript | ENST00000381077.10 | protein_coding | 2/3 | chrX | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972447 | G | GGGAGGGG others(41): Show |
intron_variant | MODIFIER | NA18612.hp1 NA19011.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0238 a0001c0002t0004g0321 |
2 | 334 | 0.0060 | 48 | c.150 others(67): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105455576 | A | AATATATA others(41): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0340 | 1 | 350 | 0.0029 | 48 | c.*22 others(59): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 926 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105456102 | T | TATATATA others(41): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0285 | 1 | 350 | 0.0029 | 48 | c.*16 others(59): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 400 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105456102 | T | TATATATA others(41): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 350 | 0.0029 | 48 | c.*16 others(59): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 400 | chr7 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160109766 | A | AAAATATA others(41): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 384 | 0.0026 | 48 | c.584 others(65): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160109784 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0094 | 1 | 384 | 0.0026 | 48 | c.584 others(65): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP3A_chr19_1349959_1383429 | 1375566 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00639.hp1 others(69): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0014others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0010 others(57): Show |
72 | 412 | 0.1748 | 48 | c.207 others(65): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1658067 | T | TCTCTCTC others(41): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0005 | a0001c0005t0024 | a0001c0005t0024g0203 | 1 | 322 | 0.0031 | 48 | c.183 others(67): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 14/22 | chr2 | TogoVar | |||||||
PYDC2_chr3_191456163_191466456 | 191463079 | T | TTTCTTTC others(41): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 434 | 0.0023 | 48 | c.*16 others(59): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1624 | chr3 | TogoVar | |||||||
PYDC2_chr3_191456163_191466456 | 191463081 | T | TCTTTCTT others(41): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 434 | 0.0023 | 48 | c.*16 others(59): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1626 | chr3 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55585160 | T | TAATTGCT others(41): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0355 | 1 | 412 | 0.0024 | 48 | c.49+ others(63): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
PYM1_chr12_55896413_55932894 | 55905863 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0167 a0001c0001t0001g0211 |
3 | 344 | 0.0087 | 48 | c.38- others(63): Show |
PYM1 | ENSG00000170473.17 | transcript | ENST00000408946.7 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
QPCTL_chr19_45687666_45708987 | 45697978 | C | CACAACTC others(41): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 446 | 0.0022 | 48 | c.634 others(63): Show |
QPCTL | ENSG00000011478.13 | transcript | ENST00000012049.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37347170 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02647.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 |
3 | 442 | 0.0068 | 48 | c.120 others(65): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 511351 | G | GGCCCGCC others(41): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG02145.hp2 others(13): Show |
a0001a0002 | a0001c0002a0002c0018 | a0001c0002t0009a0001c0002t0019a0001c0002t0026others(5): Show | a0001c0002t0009g0040 a0001c0002t0009g0041 a0001c0002t0009g0081 others(13): Show |
16 | 295 | 0.0542 | 48 | c.164 others(65): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 511626 | T | TAGGAGAG others(41): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 295 | 0.0034 | 48 | c.164 others(65): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB1A_chr2_65081854_65135106 | 65103299 | C | CAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 340 | 0.0029 | 48 | c.96+ others(63): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
RAB1A_chr2_65081854_65135106 | 65103310 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 340 | 0.0029 | 48 | c.96+ others(63): Show |
RAB1A | ENSG00000138069.18 | transcript | ENST00000409784.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
RAB20_chr13_110518066_110566722 | 110530184 | A | ACAGACAC others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0059 a0001c0001t0001g0079 a0001c0001t0001g0095 others(29): Show |
33 | 426 | 0.0775 | 48 | c.173 others(65): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
RAB20_chr13_110518066_110566722 | 110530193 | G | GGGCCCCG others(41): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0134 | 1 | 426 | 0.0024 | 48 | c.173 others(65): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
RAB20_chr13_110518066_110566722 | 110530435 | G | GCCCCGGG others(41): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02056.hp2 HG02080.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0186 a0001c0001t0003g0064 a0001c0001t0003g0071 others(28): Show |
33 | 426 | 0.0775 | 48 | c.173 others(65): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
RAB20_chr13_110518066_110566722 | 110530435 | G | GCCCCGGG others(41): Show |
intron_variant | MODIFIER | HG01123.hp1 NA18961.hp2 NA19240.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0022 a0001c0001t0003g0102 a0001c0001t0003g0104 others(2): Show |
5 | 426 | 0.0117 | 48 | c.173 others(65): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
RAB20_chr13_110518066_110566722 | 110530483 | A | ACCCCGGG others(41): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0003g0021 a0001c0002t0001g0364 a0001c0002t0001g0393 others(11): Show |
14 | 426 | 0.0329 | 48 | c.173 others(65): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
RAB20_chr13_110518066_110566722 | 110530488 | G | GGGGAAGT others(41): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 426 | 0.0024 | 48 | c.173 others(65): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
RAB20_chr13_110518066_110566722 | 110530531 | A | GCCCCGGG others(41): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0323 | 1 | 426 | 0.0024 | 48 | c.173 others(65): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
RAB27A_chr15_55197966_55294813 | 55241624 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG01891.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0228 a0001c0001t0006g0234 |
2 | 320 | 0.0063 | 48 | c.-22 others(65): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 2/6 | chr15 | TogoVar | |||||||
RAB27B_chr18_54823477_54900516 | 54850357 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0178 | 1 | 334 | 0.0030 | 48 | c.-20 others(67): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60605832 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0301 | 1 | 358 | 0.0028 | 48 | c.475 others(67): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB31_chr18_9703301_9867551 | 9716910 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02055.hp2 HG02602.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0003g0173 a0001c0001t0006g0174 a0001c0001t0014g0188 others(1): Show |
4 | 322 | 0.0124 | 48 | c.39+ others(63): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB44_chr6_36692826_36738184 | 36715102 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02572.hp1 |
a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0049 a0003c0006t0004g0056 |
2 | 428 | 0.0047 | 48 | c.320 others(63): Show |
RAB44 | ENSG00000255587.9 | transcript | ENST00000612677.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RAB5IF_chr20_36600779_36617557 | 36609156 | T | TACATACA others(41): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01943.hp1 HG02080.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0012 a0001c0001t0001g0070 a0001c0001t0001g0192 others(1): Show |
5 | 398 | 0.0126 | 48 | c.219 others(63): Show |
RAB5IF | ENSG00000101084.19 | transcript | ENST00000344795.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB6A_chr11_73670638_73766074 | 73685588 | G | GAAAGTCT others(41): Show |
intron_variant | MODIFIER | HG02622.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013 | a0001c0001t0005g0314 a0001c0001t0013g0001 |
2 | 354 | 0.0057 | 48 | c.496 others(65): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
RAB7A_chr3_128721183_128819798 | 128763208 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 314 | 0.0032 | 48 | c.-8- others(65): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RABEP2_chr16_28899421_28930238 | 28929893 | T | TATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 366 | 0.0027 | 48 | c.-47 others(59): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 4656 | chr16 | TogoVar | |||||||
RABGAP1L_chr1_174154520_175000308 | 174416035 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0150 | 1 | 272 | 0.0037 | 48 | c.171 others(69): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174416035 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02647.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012 | a0001c0001t0002g0145 a0001c0001t0005g0138 a0001c0001t0005g0143 others(2): Show |
5 | 272 | 0.0184 | 48 | c.171 others(69): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174550983 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0144 | 1 | 272 | 0.0037 | 48 | c.171 others(69): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174833449 | G | GATATATA others(41): Show |
intron_variant | MODIFIER | HG03098.hp1 HG04204.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0097 a0001c0001t0002g0132 a0001c0001t0012g0128 |
3 | 272 | 0.0110 | 48 | c.234 others(69): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937619 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0144 | 1 | 272 | 0.0037 | 48 | c.234 others(69): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937632 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 272 | 0.0037 | 48 | c.234 others(69): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAD17_chr5_69364818_69419801 | 69377600 | T | TATATATG others(41): Show |
intron_variant | MODIFIER | HG00735.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0103 |
2 | 359 | 0.0056 | 48 | c.351 others(65): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAD17_chr5_69364818_69419801 | 69377682 | T | TATATGTA others(41): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 359 | 0.0028 | 48 | c.351 others(65): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAD50_chr5_132551977_132651349 | 132619839 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0172 | 1 | 276 | 0.0036 | 48 | c.338 others(67): Show |
RAD50 | ENSG00000113522.14 | transcript | ENST00000378823.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RADIL_chr7_4792055_4888716 | 4886287 | T | TATATATG others(41): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0011 | a0011c0066 | a0011c0066t0044 | a0011c0066t0044g0133 | 1 | 292 | 0.0034 | 48 | c.-27 others(59): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 2572 | chr7 | TogoVar | |||||||
RADIL_chr7_4792055_4888716 | 4886300 | A | ATATATAT others(41): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0116 | 1 | 292 | 0.0034 | 48 | c.-27 others(59): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 2585 | chr7 | TogoVar |