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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EYS_chr6_63714980_65712226 | 65506460 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG02886.hp1 HG02896.hp1 others(2): Show |
a0001a0010a0011others(2): Show | a0001c0019a0010c0015a0011c0010others(2): Show | a0001c0019t0001a0010c0015t0002a0011c0010t0001others(2): Show | a0001c0019t0001g0006 a0010c0015t0002g0023 a0011c0010t0001g0015 others(2): Show |
5 | 24 | 0.2083 | -18 | c.-33 others(39): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 2/42 | chr6 | TogoVar | |||||||
EZH2_chr7_148802383_148889291 | 148846838 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02922.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0316 a0001c0001t0001g0334 a0001c0001t0006g0311 |
3 | 380 | 0.0079 | -18 | c.118 others(33): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 2/19 | chr7 | TogoVar | |||||||
EZH2_chr7_148802383_148889291 | 148866501 | CGTATATA others(11): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0377 | 1 | 380 | 0.0026 | -18 | c.-8+ others(35): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
EZH2_chr7_148802383_148889291 | 148866538 | GTATATAC others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp2 HG01169.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(5): Show |
8 | 380 | 0.0211 | -18 | c.-8+ others(35): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
EZR_chr6_158760748_158824368 | 158803582 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02615.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0140 a0002c0002t0007g0141 a0002c0002t0007g0142 others(3): Show |
6 | 312 | 0.0192 | -18 | c.13- others(35): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
F12_chr5_177397141_177414564 | 177399489 | CCTCCCTC others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0021 | 1 | 454 | 0.0022 | -18 | c.*27 others(29): Show |
F12 | ENSG00000131187.11 | transcript | ENST00000253496.4 | protein_coding | 2651 | chr5 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6316078 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01978.hp2 HG02132.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0013a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0013t0001others(1): Show | a0001c0001t0001g0280 a0001c0001t0002g0092 a0002c0013t0001g0169 others(1): Show |
4 | 292 | 0.0137 | -18 | c.130 others(35): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | |||||||
F2_chr11_46714213_46744506 | 46740412 | CCAGGCGT others(11): Show |
C | downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 350 | 0.0029 | -18 | c.*10 others(29): Show |
F2 | ENSG00000180210.15 | transcript | ENST00000311907.10 | protein_coding | 907 | chr11 | TogoVar | |||||||
F3_chr1_94524173_94546759 | 94542966 | ATACATAT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(308): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(88): Show |
311 | 462 | 0.6732 | -18 | c.-13 others(29): Show |
F3 | ENSG00000117525.14 | transcript | ENST00000334047.12 | protein_coding | 1208 | chr1 | TogoVar | |||||||
F7_chr13_113100791_113125685 | 113108032 | TCCCGGGA others(11): Show |
T | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 400 | 0.0025 | -18 | c.64+ others(33): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113108768 | CGGGAGTG others(11): Show |
C | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 400 | 0.0025 | -18 | c.65- others(33): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113111396 | TCACCTCA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00544.hp1 others(67): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0019 others(41): Show |
70 | 400 | 0.1750 | -18 | c.225 others(33): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113112339 | TACTCTCA others(11): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0242 | 1 | 400 | 0.0025 | -18 | c.226 others(35): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FAAH2_chrX_57281706_57494193 | 57352032 | ATATACAT others(11): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG02148.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0124 a0001c0002t0002g0119 a0001c0002t0002g0165 others(3): Show |
6 | 282 | 0.0213 | -18 | c.742 others(37): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FAAH_chr1_46389317_46418845 | 46400413 | CGTGTGAC others(11): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01884.hp2 HG03139.hp2 others(6): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0002a0003c0006t0001 | a0003c0004t0002g0018 a0003c0004t0002g0020 a0003c0004t0002g0045 others(4): Show |
9 | 370 | 0.0243 | -18 | c.196 others(35): Show |
FAAH | ENSG00000117480.16 | transcript | ENST00000243167.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FAAP100_chr17_81534891_81557353 | 81535827 | CTCTCCAT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0012 | 1 | 436 | 0.0023 | -18 | c.*49 others(29): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 4063 | chr17 | TogoVar | |||||||
FAAP100_chr17_81534891_81557353 | 81542188 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02040.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0169 |
2 | 436 | 0.0046 | -18 | c.242 others(35): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FAAP100_chr17_81534891_81557353 | 81542190 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG02293.hp2 NA18942.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0045 a0002c0004t0002g0200 |
3 | 436 | 0.0069 | -18 | c.242 others(35): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FAAP100_chr17_81534891_81557353 | 81542192 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG01517.hp2 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0047 a0002c0004t0002g0189 a0002c0004t0002g0201 others(1): Show |
5 | 436 | 0.0115 | -18 | c.242 others(35): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FAAP100_chr17_81534891_81557353 | 81542194 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | NA18951.hp1 NA18970.hp2 NA19089.hp2 |
a0002a0003 | a0002c0004a0003c0003 | a0002c0004t0002a0003c0003t0003 | a0002c0004t0002g0147 a0002c0004t0002g0192 a0003c0003t0003g0229 |
3 | 436 | 0.0069 | -18 | c.242 others(35): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FABP1_chr2_88117982_88133062 | 88130120 | AGTGTGTG others(11): Show |
A | upstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 468 | 0.0021 | -18 | c.-21 others(29): Show |
FABP1 | ENSG00000163586.10 | transcript | ENST00000295834.8 | protein_coding | 2059 | chr2 | TogoVar | |||||||
FABP3_chr1_31360253_31378076 | 31372335 | TAGACTGC others(11): Show |
T | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 388 | 0.0026 | -18 | c.73+ others(31): Show |
FABP3 | ENSG00000121769.8 | transcript | ENST00000373713.7 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
FADS2_chr11_61823300_61872354 | 61824433 | AGGGAGGG others(11): Show |
A | upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 280 | 0.0036 | -18 | c.-39 others(29): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3866 | chr11 | TogoVar | |||||||
FADS6_chr17_74872302_74898633 | 74888126 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | NA18963.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0319 | 1 | 440 | 0.0023 | -18 | c.411 others(35): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
FADS6_chr17_74872302_74898633 | 74888138 | ACACACAC others(11): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(42): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0013others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(30): Show |
45 | 440 | 0.1023 | -18 | c.411 others(35): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
FADS6_chr17_74872302_74898633 | 74888142 | ACACACAC others(11): Show |
A | intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0323 | 1 | 440 | 0.0023 | -18 | c.411 others(35): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
FADS6_chr17_74872302_74898633 | 74893497 | CGGTTCCA others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG01993.hp1 HG03516.hp1 HG03669.hp1 others(6): Show |
a0005 | a0005c0006 | a0005c0006t0001a0005c0006t0002a0005c0006t0004 | a0005c0006t0001g0078 a0005c0006t0001g0079 a0005c0006t0001g0080 others(6): Show |
9 | 440 | 0.0205 | -18 | c.81_ others(23): Show |
p.Thr others(11): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 1/6 | 136/2174 | 81/1107 | 27/368 | chr17 | TogoVar | |||
FAF1_chr1_50432028_50965267 | 50692241 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 190 | 0.0053 | -18 | c.657 others(37): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 7/18 | chr1 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50746286 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 190 | 0.0053 | -18 | c.368 others(35): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 4/18 | chr1 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50819654 | ACACACAC others(11): Show |
A | intron_variant | MODIFIER | HG03471.hp1 HG06807.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0182 a0001c0001t0010g0183 a0001c0001t0010g0184 |
3 | 190 | 0.0158 | -18 | c.115 others(37): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
FAF2_chr5_176443385_176515074 | 176454577 | GAAAAAAA others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0263 | 1 | 372 | 0.0027 | -18 | c.63+ others(33): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FAF2_chr5_176443385_176515074 | 176512317 | CTTTTTTT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02040.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0030 | a0001c0001t0002g0320 a0001c0001t0030g0145 |
2 | 372 | 0.0054 | -18 | c.*53 others(29): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 2244 | chr5 | TogoVar | |||||||
FAIM2_chr12_49861896_49908900 | 49880554 | GTGTGTGC others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0052 others(277): Show |
336 | 436 | 0.7706 | -18 | c.801 others(35): Show |
FAIM2 | ENSG00000135472.9 | transcript | ENST00000320634.8 | protein_coding | 11/11 | chr12 | TogoVar | |||||||
FAIM_chr3_138603771_138638376 | 138636279 | GAACTAAT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0253 | 1 | 368 | 0.0027 | -18 | c.*32 others(29): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 2904 | chr3 | TogoVar | |||||||
FAM104A_chr17_73202365_73237394 | 73217719 | CGAGGCAG others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0231 others(6): Show |
11 | 400 | 0.0275 | -18 | c.322 others(35): Show |
FAM104A | ENSG00000133193.13 | transcript | ENST00000405159.8 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
FAM104A_chr17_73202365_73237394 | 73232934 | CGCAGAAT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(208): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(180): Show |
211 | 400 | 0.5275 | -18 | c.-64 others(27): Show |
FAM104A | ENSG00000133193.13 | transcript | ENST00000405159.8 | protein_coding | 541 | chr17 | TogoVar | |||||||
FAM107A_chr3_58559117_58582391 | 58570583 | CAGAGAGA others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00621.hp2 others(28): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0144 a0001c0001t0001g0174 a0001c0001t0002g0143 others(22): Show |
31 | 438 | 0.0708 | -18 | c.-5- others(31): Show |
FAM107A | ENSG00000168309.18 | transcript | ENST00000360997.7 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14517736 | CACACACA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02148.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0160 |
2 | 272 | 0.0074 | -18 | c.*34 others(29): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 820 | chr10 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14611484 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(49): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0045 others(49): Show |
52 | 272 | 0.1912 | -18 | c.469 others(37): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14767083 | GAGAGAGA others(11): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 | 1 | 272 | 0.0037 | -18 | c.411 others(35): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
FAM111A_chr11_59137856_59160039 | 59141888 | AAAAGAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 442 | 0.0023 | -18 | c.-15 others(29): Show |
FAM111A | ENSG00000166801.17 | transcript | ENST00000675163.1 | protein_coding | 967 | chr11 | TogoVar | |||||||
FAM114A1_chr4_38862806_38950739 | 38898968 | TATATATG others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(70): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0019 a0001c0001t0001g0050 a0001c0001t0001g0099 others(67): Show |
73 | 372 | 0.1962 | -18 | c.437 others(35): Show |
FAM114A1 | ENSG00000197712.12 | transcript | ENST00000358869.5 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM114A1_chr4_38862806_38950739 | 38915744 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG03139.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0042a0002c0003t0002 | a0001c0001t0042g0210 a0002c0003t0002g0043 |
2 | 372 | 0.0054 | -18 | c.945 others(33): Show |
FAM114A1 | ENSG00000197712.12 | transcript | ENST00000358869.5 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM117B_chr2_202629969_202774757 | 202640295 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02717.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0003c0003t0010a0003c0003t0041others(1): Show | a0001c0001t0005g0228 a0003c0003t0010g0246 a0003c0003t0010g0247 others(3): Show |
6 | 318 | 0.0189 | -18 | c.601 others(35): Show |
FAM117B | ENSG00000138439.12 | transcript | ENST00000392238.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM117B_chr2_202629969_202774757 | 202655707 | TGAGAGAG others(11): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp2 HG01168.hp1 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0030a0002c0002t0051others(3): Show | a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 others(12): Show |
15 | 318 | 0.0472 | -18 | c.601 others(37): Show |
FAM117B | ENSG00000138439.12 | transcript | ENST00000392238.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM117B_chr2_202629969_202774757 | 202691682 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0097 | a0002c0002t0097g0315 | 1 | 318 | 0.0031 | -18 | c.602 others(35): Show |
FAM117B | ENSG00000138439.12 | transcript | ENST00000392238.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM117B_chr2_202629969_202774757 | 202731332 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0265 | 1 | 318 | 0.0031 | -18 | c.960 others(35): Show |
FAM117B | ENSG00000138439.12 | transcript | ENST00000392238.3 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM117B_chr2_202629969_202774757 | 202766061 | AACACACA others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0126 | a0001c0001t0126g0242 | 1 | 318 | 0.0031 | -18 | c.*32 others(27): Show |
FAM117B | ENSG00000138439.12 | transcript | ENST00000392238.3 | protein_coding | 8/8 | 326 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FAM118B_chr11_126206782_126267968 | 126210533 | ACACACAC others(11): Show |
A | upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 346 | 0.0029 | -18 | c.-13 others(29): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1248 | chr11 | TogoVar | |||||||
FAM118B_chr11_126206782_126267968 | 126219349 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 346 | 0.0029 | -18 | c.-77 others(35): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |