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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EYA2_chr20_46889843_47193844 | 46925916 | CAGATAAT | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00735.hp1 others(62): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0046a0001c0001t0001g0047others(62): Show | 65 | 238 | 0.2731 | -7 | c.-11 others(26): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47149688 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00735.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0094a0001c0001t0001g0163a0001c0001t0001g0220others(58): Show | 61 | 238 | 0.2563 | -7 | c.978 others(24): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47166393 | TAAAAAAA | T | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01496.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0034a0001c0001t0001g0047a0001c0001t0001g0155others(17): Show | 20 | 238 | 0.0840 | -7 | c.979 others(24): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47186348 | CTTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02109.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0013others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(4): Show | a0001c0001t0001g0030a0001c0001t0001g0035a0001c0001t0001g0046others(16): Show | 19 | 238 | 0.0798 | -7 | c.153 others(26): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA3_chr1_27965344_28093610 | 28024342 | GAGTACAA | G | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0203a0001c0001t0008g0006a0001c0001t0008g0007others(3): Show | 6 | 392 | 0.0153 | -7 | c.499 others(24): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 7/17 | chr1 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133372472 | TAATATAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(233): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0011others(233): Show | 236 | 264 | 0.8939 | -7 | c.34- others(22): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133383517 | CAAAAAAA | C | intron_variant | MODIFIER | HG02486.hp2 HG02602.hp1 HG04228.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0001c0001t0019a0002c0002t0001 | a0001c0001t0016g0050a0001c0001t0019g0261a0002c0002t0001g0036others(2): Show | 5 | 264 | 0.0189 | -7 | c.83+ others(22): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133394282 | GTGTTTTT | G | intron_variant | MODIFIER | HG01978.hp1 HG02486.hp2 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0043a0001c0001t0002g0098a0001c0001t0002g0243others(2): Show | 5 | 264 | 0.0189 | -7 | c.83+ others(24): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYS_chr6_63714980_65712226 | 63895905 | GTTTTTTT | G | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02630.hp2 others(3): Show |
a0001a0002a0005others(2): Show | a0001c0012a0002c0008a0002c0021others(3): Show | a0001c0012t0002a0002c0008t0002a0002c0021t0001others(3): Show | a0001c0012t0002g0021a0002c0008t0002g0020a0002c0021t0001g0008others(3): Show | 6 | 24 | 0.2500 | -7 | c.705 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 35/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64079556 | GTTTTTTA | G | intron_variant | MODIFIER | HG03098.hp2 HG03209.hp2 |
a0008a0016 | a0008c0007a0016c0014 | a0008c0007t0001a0016c0014t0001 | a0008c0007t0001g0009a0016c0014t0001g0005 | 2 | 24 | 0.0833 | -7 | c.657 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 32/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64378165 | TAACAGAC | T | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02451.hp1 others(11): Show |
a0001a0003a0005others(9): Show | a0001c0009a0001c0012a0003c0002others(11): Show | a0001c0009t0001a0001c0012t0002a0003c0002t0002others(11): Show | a0001c0009t0001g0012a0001c0012t0002g0021a0003c0002t0002g0019others(11): Show | 14 | 24 | 0.5833 | -7 | c.607 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 29/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64434132 | TTAGGAGA | T | intron_variant | MODIFIER | HG02886.hp1 HG03195.hp2 |
a0019a0020 | a0019c0023a0020c0015 | a0019c0023t0001a0020c0015t0002 | a0019c0023t0001g0010a0020c0015t0002g0023 | 2 | 24 | 0.0833 | -7 | c.592 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 28/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64724916 | ATCTTTTC | A | intron_variant | MODIFIER | HG02630.hp1 HG02965.hp2 HG03195.hp1 |
a0003a0007a0011 | a0003c0002a0007c0018a0011c0001 | a0003c0002t0002a0007c0018t0001a0011c0001t0001 | a0003c0002t0002g0019a0007c0018t0001g0007a0011c0001t0001g0013 | 3 | 24 | 0.1250 | -7 | c.344 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65146250 | CAAGGCCA | C | intron_variant | MODIFIER | HG02809.hp2 HG03098.hp2 |
a0016a0017 | a0016c0014a0017c0013 | a0016c0014t0001a0017c0013t0001 | a0016c0014t0001g0005a0017c0013t0001g0017 | 2 | 24 | 0.0833 | -7 | c.202 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148807814 | TAAAAAAA | T | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02572.hp2 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0186others(8): Show | 11 | 380 | 0.0290 | -7 | c.219 others(24): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 19/19 | chr7 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148873557 | ATTTTTTT | A | intron_variant | MODIFIER | HG01074.hp2 HG01123.hp1 HG02071.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0352others(13): Show | 16 | 380 | 0.0421 | -7 | c.-8+ others(24): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6291064 | GGGTACTC | G | intron_variant | MODIFIER | HG00673.hp2 HG01109.hp1 HG02040.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0094a0001c0001t0001g0098a0001c0001t0001g0280others(12): Show | 15 | 292 | 0.0514 | -7 | c.319 others(26): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 3/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6293704 | AAAGAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0009others(3): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0181a0001c0001t0001g0235a0001c0001t0001g0252others(5): Show | 8 | 292 | 0.0274 | -7 | c.319 others(26): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 3/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6312521 | AAGAAAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(228): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0006a0001c0021others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(47): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(227): Show | 231 | 292 | 0.7911 | -7 | c.130 others(24): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | ||||||
F5_chr1_169506951_169591481 | 169546977 | AAAAAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(76): Show |
a0002a0003a0004others(9): Show | a0002c0003a0002c0010a0002c0019others(21): Show | a0002c0003t0001a0002c0003t0004a0002c0010t0001others(24): Show | a0002c0003t0001g0003a0002c0003t0001g0005a0002c0003t0001g0013others(72): Show | 79 | 306 | 0.2582 | -7 | c.161 others(24): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 10/24 | chr1 | TogoVar | ||||||
F8A1_chrX_154881355_154893061 | 154888380 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 325 | 0.0092 | -7 | c.*89 others(16): Show |
F8A1 | ENSG00000288722.1 | transcript | ENST00000610495.2 | protein_coding | 320 | chrX | TogoVar | ||||||
F8A1_chrX_154881355_154893061 | 154888400 | TTTTTTTC | T | downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 325 | 0.0031 | -7 | c.*91 others(16): Show |
F8A1 | ENSG00000288722.1 | transcript | ENST00000610495.2 | protein_coding | 340 | chrX | TogoVar | ||||||
F8A1_chrX_154881355_154893061 | 154888401 | TTTTTTCC | T | downstream_gene_variant | MODIFIER | HG02129.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 325 | 0.0062 | -7 | c.*91 others(16): Show |
F8A1 | ENSG00000288722.1 | transcript | ENST00000610495.2 | protein_coding | 341 | chrX | TogoVar | ||||||
F8_chrX_154830792_155027723 | 154888380 | ATTTTTTT | A | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 NA18962.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0061a0002c0002t0002g0182a0002c0002t0002g0183 | 3 | 233 | 0.0129 | -7 | c.642 others(26): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 22/25 | chrX | TogoVar | ||||||
F8_chrX_154830792_155027723 | 154888401 | TTTTTTCC | T | intron_variant | MODIFIER | HG02129.hp1 HG03831.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0165a0001c0003t0002g0171 | 2 | 233 | 0.0086 | -7 | c.642 others(26): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 22/25 | chrX | TogoVar | ||||||
F8_chrX_154830792_155027723 | 154941735 | ACCTATTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp1 others(93): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0009a0006c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0027others(93): Show | 96 | 233 | 0.4120 | -7 | c.211 others(26): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 13/25 | chrX | TogoVar | ||||||
F8_chrX_154830792_155027723 | 154947224 | GAAAAAAA | G | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 233 | 0.0043 | -7 | c.211 others(24): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 13/25 | chrX | TogoVar | ||||||
F8_chrX_154830792_155027723 | 154972707 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02630.hp1 others(10): Show |
a0002a0005a0012 | a0002c0002a0005c0007a0012c0011 | a0002c0002t0002a0005c0007t0002a0012c0011t0002 | a0002c0002t0002g0006a0002c0002t0002g0008a0002c0002t0002g0010others(10): Show | 13 | 233 | 0.0558 | -7 | c.788 others(24): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 6/25 | chrX | TogoVar | ||||||
FA2H_chr16_74707969_74779820 | 74741832 | GTGTGTAT | G | intron_variant | MODIFIER | HG01081.hp1 HG02132.hp2 HG02818.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0049a0001c0001t0001g0137a0001c0001t0001g0234others(7): Show | 10 | 388 | 0.0258 | -7 | c.271 others(24): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
FAAH2_chrX_57281706_57494193 | 57288338 | CTTTTTTT | C | intron_variant | MODIFIER | NA18940.hp1 NA19065.hp1 NA19066.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006a0001c0002t0002g0007a0001c0002t0002g0008others(1): Show | 4 | 282 | 0.0142 | -7 | c.192 others(24): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH2_chrX_57281706_57494193 | 57347604 | GTTTTTTT | G | intron_variant | MODIFIER | HG02027.hp1 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0113 | 2 | 282 | 0.0071 | -7 | c.742 others(24): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH2_chrX_57281706_57494193 | 57452470 | CACACAAA | C | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0138 | 1 | 282 | 0.0036 | -7 | c.142 others(26): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH2_chrX_57281706_57494193 | 57483602 | TTCTTATG | T | intron_variant | MODIFIER | HG01433.hp1 | a0008 | a0008c0005 | a0008c0005t0001 | a0008c0005t0001g0019 | 1 | 282 | 0.0036 | -7 | c.142 others(26): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 10/10 | chrX | TogoVar | ||||||
FADD_chr11_70198296_70212390 | 70199977 | GAAAAAAA | G | upstream_gene_variant | MODIFIER | HG02074.hp2 HG02523.hp1 HG02523.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0002a0001c0001t0002g0001a0001c0001t0006g0002 | 8 | 408 | 0.0196 | -7 | c.-34 others(18): Show |
FADD | ENSG00000168040.5 | transcript | ENST00000301838.5 | protein_coding | 3318 | chr11 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61824495 | AAAGAAAG | A | upstream_gene_variant | MODIFIER | HG01192.hp2 HG02040.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0139a0001c0001t0001g0196a0001c0001t0002g0218 | 3 | 280 | 0.0107 | -7 | c.-38 others(18): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3804 | chr11 | TogoVar | ||||||
FADS3_chr11_61868526_61896545 | 61875379 | GTTTTTTT | G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(115): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(56): Show | 118 | 418 | 0.2823 | -7 | c.128 others(24): Show |
FADS3 | ENSG00000221968.9 | transcript | ENST00000278829.7 | protein_coding | 11/11 | chr11 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50581619 | AATAAGAG | A | intron_variant | MODIFIER | HG01175.hp2 HG02257.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0028a0001c0003t0007 | a0001c0001t0007g0054a0001c0001t0007g0070a0001c0001t0007g0071others(4): Show | 7 | 190 | 0.0368 | -7 | c.111 others(24): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 12/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50729051 | TATATATA | T | intron_variant | MODIFIER | HG02486.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0054a0001c0001t0007g0072 | 2 | 190 | 0.0105 | -7 | c.551 others(24): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 6/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50931884 | AAATAAAT | A | intron_variant | MODIFIER | HG00621.hp1 HG02132.hp2 HG02135.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0017others(1): Show | a0001c0001t0003g0017a0001c0001t0003g0035a0001c0001t0003g0036others(6): Show | 9 | 190 | 0.0474 | -7 | c.45+ others(24): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50957368 | TTGAGACA | T | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01257.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0166a0001c0001t0001g0172a0001c0001t0001g0173others(18): Show | 21 | 190 | 0.1105 | -7 | c.45+ others(22): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50957371 | AGACAGAG | A | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0002g0124others(2): Show | 5 | 190 | 0.0263 | -7 | c.45+ others(22): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
FAF2_chr5_176443385_176515074 | 176467129 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(109): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0115others(109): Show | 112 | 372 | 0.3011 | -7 | c.64- others(24): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FAHD1_chr16_1822206_1833910 | 1823744 | TAAAAAAA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp2 others(61): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0004t0009a0002c0003t0002others(3): Show | a0001c0001t0001g0000a0001c0004t0009g0000a0002c0003t0002g0000others(3): Show | 64 | 448 | 0.1429 | -7 | c.-34 others(18): Show |
FAHD1 | ENSG00000180185.13 | transcript | ENST00000427358.5 | protein_coding | 3461 | chr16 | TogoVar | ||||||
FAH_chr15_80147999_80191349 | 80148848 | TGTGTGTG | T | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02486.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199a0001c0001t0001g0202a0001c0001t0001g0203 | 3 | 428 | 0.0070 | -7 | c.-42 others(18): Show |
FAH | ENSG00000103876.14 | transcript | ENST00000561421.6 | protein_coding | 4150 | chr15 | TogoVar | ||||||
FAM107A_chr3_58559117_58582391 | 58559548 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(246): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0019others(173): Show | 249 | 438 | 0.5685 | -7 | c.*70 others(18): Show |
FAM107A | ENSG00000168309.18 | transcript | ENST00000360997.7 | protein_coding | 4568 | chr3 | TogoVar | ||||||
FAM107B_chr10_14513557_14779897 | 14663887 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01099.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0034a0001c0001t0001g0050a0001c0001t0001g0137others(20): Show | 23 | 272 | 0.0846 | -7 | c.469 others(24): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
FAM107B_chr10_14513557_14779897 | 14683224 | ATCTAATC | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(56): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0050others(56): Show | 59 | 272 | 0.2169 | -7 | c.412 others(26): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
FAM107B_chr10_14513557_14779897 | 14770975 | TAAAAAAA | T | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02698.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0026a0001c0001t0002g0022a0001c0001t0003g0027others(4): Show | 7 | 272 | 0.0257 | -7 | c.411 others(24): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
FAM110B_chr8_57989523_58153784 | 58019355 | AAAAAAGG | A | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00733.hp1 others(45): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0084a0001c0001t0001g0088a0001c0001t0001g0089others(45): Show | 48 | 300 | 0.1600 | -7 | c.-51 others(28): Show |
FAM110B | ENSG00000169122.12 | transcript | ENST00000519262.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
FAM110B_chr8_57989523_58153784 | 58105556 | ATTTTTTT | A | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG02559.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0186a0001c0001t0003g0129a0001c0001t0003g0134others(10): Show | 13 | 300 | 0.0433 | -7 | c.-32 others(28): Show |
FAM110B | ENSG00000169122.12 | transcript | ENST00000519262.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |