regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RTN1_chr14_59590983_59875776 | 59750553 | A | ATATATCT others(604): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0080 | 1 | 172 | 0.0058 | 611 | c.242 others(628): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(604): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0183 | 1 | 346 | 0.0029 | 611 | c.-70 others(628): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(604): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008 | a0001c0001t0003g0178a0001c0001t0003g0179a0001c0001t0003g0180others(6): Show | 9 | 346 | 0.0260 | 611 | c.-70 others(628): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(604): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0186 | 1 | 346 | 0.0029 | 611 | c.-70 others(628): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(604): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 346 | 0.0029 | 611 | c.-70 others(628): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322292 | A | ATGGGCGG others(604): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00738.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0004t0001others(3): Show | a0001c0001t0001g0321a0001c0005t0001g0032a0001c0005t0001g0294others(27): Show | 32 | 388 | 0.0825 | 611 | c.-24 others(628): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC45A1_chr1_8313114_8349165 | 8322292 | A | ATGGGCGG others(604): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00741.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0001 | a0001c0001t0002g0313a0001c0001t0002g0314a0001c0001t0002g0315others(2): Show | 5 | 388 | 0.0129 | 611 | c.-24 others(628): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC45A1_chr1_8313114_8349165 | 8322296 | A | ATAGGCGG others(604): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 388 | 0.0026 | 611 | c.-24 others(628): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNX9_chr6_157818246_157950077 | 157827465 | A | AATATATT others(604): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 302 | 0.0033 | 611 | c.12+ others(626): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(604): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 302 | 0.0033 | 611 | c.12+ others(626): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(604): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 302 | 0.0033 | 611 | c.12+ others(626): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(604): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 302 | 0.0033 | 611 | c.12+ others(626): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(604): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0017 | 1 | 322 | 0.0031 | 611 | c.597 others(628): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
STKLD1_chr9_133371366_133411096 | 133383293 | T | TGATGATG others(604): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0007 | a0007c0013 | a0007c0013t0002 | a0007c0013t0002g0308 | 1 | 356 | 0.0028 | 611 | c.175 others(626): Show |
STKLD1 | ENSG00000198870.8 | transcript | ENST00000371957.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
STKLD1_chr9_133371366_133411096 | 133383293 | T | TGATGATG others(604): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 220 | 356 | 0.6180 | 611 | c.175 others(626): Show |
STKLD1 | ENSG00000198870.8 | transcript | ENST00000371957.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
STKLD1_chr9_133371366_133411096 | 133383293 | T | TGATGATG others(604): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 356 | 0.0028 | 611 | c.175 others(626): Show |
STKLD1 | ENSG00000198870.8 | transcript | ENST00000371957.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
STKLD1_chr9_133371366_133411096 | 133383293 | T | TGATGATG others(604): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01071.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0014a0001c0035others(6): Show | a0001c0004t0003a0001c0014t0003a0001c0035t0011others(6): Show | a0001c0004t0003g0030a0001c0014t0003g0030a0001c0014t0003g0299others(16): Show | 20 | 356 | 0.0562 | 611 | c.175 others(626): Show |
STKLD1 | ENSG00000198870.8 | transcript | ENST00000371957.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
STKLD1_chr9_133371366_133411096 | 133383293 | T | TGATGATG others(604): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0011 | a0011c0027 | a0011c0027t0002 | a0011c0027t0002g0259 | 1 | 356 | 0.0028 | 611 | c.175 others(626): Show |
STKLD1 | ENSG00000198870.8 | transcript | ENST00000371957.4 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(604): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0154 | 1 | 258 | 0.0039 | 611 | c.113 others(630): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(604): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0041a0001c0001t0001g0065a0001c0001t0001g0068others(53): Show | 56 | 258 | 0.2171 | 611 | c.113 others(630): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48605186 | G | GTGATGAT others(604): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0009a0001c0001t0002g0047a0001c0001t0002g0099others(7): Show | 10 | 258 | 0.0388 | 611 | c.113 others(630): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 47128216 | C | CCATCCTC others(604): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 112 | 0.0089 | 611 | c.142 others(632): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
THBS2_chr6_169210785_169258846 | 169242751 | T | TTCCCACC others(604): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0075 | 1 | 396 | 0.0025 | 611 | c.695 others(626): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | ||||||
TMEM239_chr20_2811364_2823062 | 2823000 | G | GTCTCCCT others(604): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 400 | 0.0025 | 611 | c.*59 others(622): Show |
TMEM239 | ENSG00000198326.10 | transcript | ENST00000380585.2 | protein_coding | 4939 | chr20 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311382 | G | GTGCGCTC others(604): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0317 | 1 | 344 | 0.0029 | 611 | c.327 others(628): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312036 | A | ACCTACCC others(604): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00735.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0108a0001c0001t0001g0116others(16): Show | 19 | 344 | 0.0552 | 611 | c.327 others(628): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312036 | A | ACCTACCC others(604): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 344 | 0.0029 | 611 | c.327 others(628): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1547938 | A | ACACACAC others(604): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0008 | a0008c0011 | a0008c0011t0015 | a0008c0011t0015g0120 | 1 | 130 | 0.0077 | 611 | c.*54 others(622): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 4266 | chr2 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347067 | C | CTGGACCA others(604): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0192 | 1 | 198 | 0.0051 | 611 | c.204 others(632): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370046 | C | CGTGTGTA others(604): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0006 | a0001c0006t0025 | a0001c0006t0025g0379 | 1 | 468 | 0.0021 | 611 | c.-6- others(626): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(604): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 218 | 0.0046 | 611 | c.55+ others(626): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(604): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 302 | 0.0033 | 611 | c.-1- others(628): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(604): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0128a0001c0001t0002g0030a0001c0001t0002g0031others(4): Show | 7 | 302 | 0.0232 | 611 | c.-1- others(628): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(604): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0017others(40): Show | 43 | 302 | 0.1424 | 611 | c.-1- others(628): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(604): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 302 | 0.0033 | 611 | c.-1- others(628): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(604): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 302 | 0.0033 | 611 | c.-1- others(628): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZFPM1_chr16_88448280_88542031 | 88501132 | G | GGGCCCTC others(604): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0026 | a0026c0070 | a0026c0070t0028 | a0026c0070t0028g0310 | 1 | 318 | 0.0031 | 611 | c.268 others(630): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZNF407_chr18_74592870_75070671 | 74616953 | G | GCATCCAT others(604): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 92 | 0.0109 | 611 | c.-53 others(630): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ZNF469_chr16_88377959_88445753 | 88401469 | A | AGATGGAT others(604): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03139.hp1 |
a0009 | a0009c0010 | a0009c0010t0007 | a0009c0010t0007g0210a0009c0010t0007g0213 | 2 | 354 | 0.0057 | 611 | c.-19 others(632): Show |
ZNF469 | ENSG00000225614.4 | transcript | ENST00000565624.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZNF469_chr16_88377959_88445753 | 88401469 | A | AGATGGAT others(604): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(67): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0002a0001c0035others(46): Show | a0001c0001t0001a0001c0001t0032a0001c0002t0001others(50): Show | a0001c0001t0001g0027a0001c0001t0001g0064a0001c0001t0032g0003others(67): Show | 70 | 354 | 0.1977 | 611 | c.-19 others(632): Show |
ZNF469 | ENSG00000225614.4 | transcript | ENST00000565624.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZNF469_chr16_88377959_88445753 | 88401469 | A | AGATGGAT others(604): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03130.hp2 |
a0015a0040 | a0015c0024a0040c0049 | a0015c0024t0015a0040c0049t0001 | a0015c0024t0015g0208a0040c0049t0001g0199 | 2 | 354 | 0.0057 | 611 | c.-19 others(632): Show |
ZNF469 | ENSG00000225614.4 | transcript | ENST00000565624.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZNF627_chr19_11592483_11624161 | 11613086 | C | CGACCCCT others(604): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 322 | 0.0031 | 611 | c.4-1 others(624): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(604): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 383 | 0.0026 | 611 | c.-42 others(622): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(604): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 383 | 0.0026 | 611 | c.-42 others(622): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714555 | T | TACCACTG others(605): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0038 | 1 | 344 | 0.0029 | 612 | c.127 others(629): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AHNAK2_chr14_104932253_104983374 | 104933612 | C | CGGGAGGG others(605): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 | a0121 | a0121c0231 | a0121c0231t0002 | a0121c0231t0002g0251 | 1 | 356 | 0.0028 | 612 | c.*44 others(623): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 3640 | chr14 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 415304 | C | CGGGTGGG others(605): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0014 | 1 | 268 | 0.0037 | 612 | c.441 others(629): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415410 | T | TGGGAGGC others(605): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0219 | 1 | 268 | 0.0037 | 612 | c.441 others(629): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415614 | C | CGGGAGGC others(605): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 268 | 0.0037 | 612 | c.441 others(629): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AK8_chr9_132720578_132883284 | 132812948 | G | GCCTACAC others(605): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 266 | 0.0038 | 612 | c.979 others(629): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 10/12 | chr9 | TogoVar |