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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERICH5_chr8_98059568_98098609 | 98073482 | ATATGTAT others(56): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00597.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0016a0001c0001t0001g0132a0001c0001t0001g0287others(11): Show | 14 | 442 | 0.0317 | -63 | c.58+ others(78): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158729269 | GGAGGAGC others(56): Show |
G | downstream_gene_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0277 | 1 | 370 | 0.0027 | -63 | c.*48 others(74): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1727 | chr7 | TogoVar | ||||||
F8A1_chrX_154881355_154893061 | 154886731 | GGCCGCCG others(56): Show |
G | conservative_inframe_deletion | MODERATE | NA19011.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0000 | 1 | 325 | 0.0031 | -63 | c.367 others(70): Show |
p.Ser others(13): Show |
F8A1 | ENSG00000288722.1 | transcript | ENST00000610495.2 | protein_coding | 1/1 | 387/1707 | 367/1116 | 123/371 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
F8A2_chrX_155377095_155388801 | 155385212 | CGTCAGGG others(56): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 267 | 0.0038 | -63 | c.*19 others(74): Show |
F8A2 | ENSG00000288709.1 | transcript | ENST00000369505.5 | protein_coding | 1412 | chrX | TogoVar | ||||||
F8_chrX_154830792_155027723 | 154886731 | GGCCGCCG others(56): Show |
G | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 233 | 0.0043 | -63 | c.642 others(82): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 22/25 | chrX | TogoVar | ||||||
FBRS_chr16_30653431_30675810 | 30670744 | CCCTGGTG others(56): Show |
C | 3_prime_UTR_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0002 | 1 | 262 | 0.0038 | -63 | c.*11 others(74): Show |
FBRS | ENSG00000156860.16 | transcript | ENST00000356166.11 | protein_coding | 18/18 | 1100 | chr16 | TogoVar | |||||
FBXO34_chr14_55266421_55358611 | 55331654 | ATACCAAC others(56): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0122 | 1 | 334 | 0.0030 | -63 | c.-10 others(82): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FBXO8_chr4_174231658_174288667 | 174265288 | ATTTACCT others(56): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 376 | 0.0027 | -63 | c.-8- others(78): Show |
FBXO8 | ENSG00000164117.14 | transcript | ENST00000393674.7 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
FGF14_chr13_101705804_101921945 | 101850464 | ATATATAT others(56): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0049 | a0001c0001t0013g0142a0001c0001t0013g0143a0001c0001t0013g0144others(1): Show | 4 | 266 | 0.0150 | -63 | c.408 others(82): Show |
FGF14 | ENSG00000102466.17 | transcript | ENST00000376143.5 | protein_coding | 3/4 | chr13 | TogoVar | ||||||
FILIP1L_chr3_99823811_100119501 | 100037130 | ATAAAATG others(56): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0028a0001c0001t0011g0029 | 2 | 258 | 0.0078 | -63 | c.-11 others(82): Show |
FILIP1L | ENSG00000168386.19 | transcript | ENST00000477258.2 | protein_coding | 1/5 | chr3 | TogoVar | ||||||
FIRRM_chr1_169790040_169859080 | 169850982 | TTTTTTTT others(56): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0158 | 1 | 420 | 0.0024 | -63 | c.224 others(80): Show |
FIRRM | ENSG00000000460.17 | transcript | ENST00000359326.9 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FMN1_chr15_32760544_33199714 | 32777907 | TATATATT others(56): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0040 | a0040c0057 | a0040c0057t0053 | a0040c0057t0053g0042 | 1 | 196 | 0.0051 | -63 | c.413 others(81): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | ||||||
FNIP1_chr5_131636714_131802017 | 131785050 | TATATATA others(56): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp2 HG02280.hp2 others(21): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0302others(21): Show | 24 | 328 | 0.0732 | -63 | c.92+ others(80): Show |
FNIP1 | ENSG00000217128.13 | transcript | ENST00000510461.6 | protein_coding | 1/17 | chr5 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89360750 | ACCACCAC others(56): Show |
A | intron_variant | MODIFIER | HG02572.hp2 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0054 | a0001c0001t0012g0171a0001c0001t0054g0068 | 2 | 230 | 0.0087 | -63 | c.544 others(81): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89360948 | ACCACCAC others(56): Show |
A | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361003 | CCACCACC others(56): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0107 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361069 | CCACCTCC others(56): Show |
C | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0196 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361100 | CACCACCA others(56): Show |
C | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0060 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361140 | TCCACCAC others(56): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0005 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361159 | GCACTACC others(56): Show |
G | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0048 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361293 | AGCACCAC others(56): Show |
A | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0017 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361309 | CCACCACC others(56): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0098 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361392 | ACCTCCAG others(56): Show |
A | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361492 | ACCACCAC others(56): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361539 | CACCTCCA others(56): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0170 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361570 | ACCACCAC others(56): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0223 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361791 | CTCCACCA others(56): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0186 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89362077 | AGCACCAC others(56): Show |
A | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0196 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89362233 | TCCACCAC others(56): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0167 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89362279 | CCACCACC others(56): Show |
C | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0216 | 1 | 230 | 0.0044 | -63 | c.544 others(82): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FRYL_chr4_48492357_48785279 | 48659793 | GGGAGAAG others(56): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0229 | 1 | 282 | 0.0036 | -63 | c.-81 others(82): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 3/63 | chr4 | TogoVar | ||||||
FSHR_chr2_48957157_49159515 | 49127742 | TTCTTCTT others(56): Show |
T | intron_variant | MODIFIER | HG02738.hp1 HG03041.hp1 HG03453.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0002c0002t0002a0003c0003t0002 | a0001c0001t0002g0020a0001c0001t0002g0032a0002c0002t0002g0010others(2): Show | 5 | 350 | 0.0143 | -63 | c.152 others(82): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
FSHR_chr2_48957157_49159515 | 49127767 | TTCTTCTT others(56): Show |
T | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 350 | 0.0029 | -63 | c.152 others(82): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
FUNDC1_chrX_44518639_44547859 | 44531240 | CCAGAAAA others(56): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069a0001c0001t0002g0070a0001c0001t0002g0074 | 3 | 313 | 0.0096 | -63 | c.262 others(80): Show |
FUNDC1 | ENSG00000069509.6 | transcript | ENST00000378045.5 | protein_coding | 3/4 | chrX | TogoVar | ||||||
GAK_chr4_844277_937316 | 852263 | AGGGCTTG others(56): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG01261.hp2 others(24): Show |
a0001a0004a0019 | a0001c0001a0004c0009a0004c0011others(1): Show | a0001c0001t0001a0004c0009t0001a0004c0009t0006others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0032others(24): Show | 27 | 390 | 0.0692 | -63 | c.328 others(80): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 24/27 | chr4 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11319041 | TTTAGAAA others(56): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02486.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(11): Show | a0001c0001t0001g0179a0001c0001t0002g0041a0001c0001t0002g0044others(15): Show | 18 | 260 | 0.0692 | -63 | c.151 others(82): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 9/10 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11510717 | GTTGGCCC others(56): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 260 | 0.0039 | -63 | c.236 others(82): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259204 | GGTCATGG others(56): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp1 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0003a0001c0001t0114a0001c0002t0024others(1): Show | a0001c0001t0003g0288a0001c0001t0114g0057a0001c0002t0024g0007others(3): Show | 7 | 366 | 0.0191 | -63 | c.732 others(80): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GAS6_chr13_113815549_113869076 | 113824109 | TTCTGAGC others(56): Show |
T | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 143 | 0.0070 | -63 | c.147 others(80): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59611103 | CTCCCCCT others(56): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0054a0001c0002t0034a0001c0002t0105others(1): Show | a0001c0001t0054g0110a0001c0002t0034g0112a0001c0002t0034g0113others(2): Show | 5 | 428 | 0.0117 | -63 | c.-11 others(74): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 679 | chr15 | TogoVar | ||||||
GGT5_chr22_24214660_24250082 | 24238811 | TATTATAT others(56): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 |
a0003 | a0003c0004a0003c0010 | a0003c0004t0003a0003c0010t0003 | a0003c0004t0003g0377a0003c0010t0003g0373 | 2 | 420 | 0.0048 | -63 | c.174 others(80): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
GJA10_chr6_89889469_89901120 | 89898151 | TTTCCTTT others(56): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0000 | 1 | 386 | 0.0026 | -63 | c.*20 others(74): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2032 | chr6 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104021920 | AGAAGAAG others(56): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 416 | 0.0024 | -63 | c.-16 others(80): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795503 | CACTGCCC others(56): Show |
C | downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0010 | 1 | 422 | 0.0024 | -63 | c.*31 others(74): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2537 | chr16 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795504 | ACTGCCCG others(56): Show |
A | downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0010 | 1 | 422 | 0.0024 | -63 | c.*31 others(74): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2536 | chr16 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132780104 | CGCACAGC others(56): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0052 | a0002c0002t0052g0220 | 1 | 308 | 0.0033 | -63 | c.358 others(80): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 18/23 | chr12 | TogoVar | ||||||
GOLGA6L10_chr15_82334993_82354475 | 82345089 | TAGCCTCT others(56): Show |
T | disruptive_inframe_deletion | MODERATE | HG02723.hp1 HG02922.hp2 HG03540.hp1 others(3): Show |
a0001 | a0001c0001a0001c0029 | a0001c0001t0003a0001c0001t0033a0001c0029t0003 | a0001c0001t0003g0002a0001c0001t0003g0008a0001c0001t0003g0013others(2): Show | 6 | 301 | 0.0199 | -63 | c.708 others(70): Show |
p.Cys others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 870/4452 | 708/1569 | 236/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345171 | CGTAGCCT others(56): Show |
C | disruptive_inframe_deletion | MODERATE | HG02723.hp1 HG02922.hp2 HG03540.hp1 others(3): Show |
a0001 | a0001c0001a0001c0029 | a0001c0001t0003a0001c0001t0033a0001c0029t0003 | a0001c0001t0003g0002a0001c0001t0003g0008a0001c0001t0003g0013others(2): Show | 6 | 301 | 0.0199 | -63 | c.626 others(70): Show |
p.His others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 788/4452 | 626/1569 | 209/522 | chr15 | TogoVar | ||
GOLGA6L7_chr15_28836832_28853644 | 28842910 | TCGCATCT others(56): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00673.hp1 HG00741.hp2 others(74): Show |
a0003a0005a0007others(13): Show | a0003c0003a0005c0006a0007c0008others(13): Show | a0003c0003t0002a0003c0003t0005a0003c0003t0006others(19): Show | a0003c0003t0002g0002a0003c0003t0002g0024a0003c0003t0002g0034others(32): Show | 77 | 422 | 0.1825 | -63 | c.113 others(72): Show |
p.Lys others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1288/2367 | 1131/1869 | 377/622 | chr15 | TogoVar | ||
GOLGA6L7_chr15_28836832_28853644 | 28843101 | CCATCTGC others(56): Show |
C | conservative_inframe_deletion | MODERATE | HG02258.hp2 | a0049 | a0049c0037 | a0049c0037t0002 | a0049c0037t0002g0100 | 1 | 422 | 0.0024 | -63 | c.940 others(71): Show |
p.Arg others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1097/2367 | 940/1869 | 314/622 | chr15 | TogoVar |