| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FAM81B_chr5_95386366_95455441 | 95426094 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01358.hp2 HG02258.hp2 others(7): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0118a0001c0001t0001g0205a0001c0001t0001g0330others(7): Show | 10 | 348 | 0.0287 | 8 | c.657 others(25): Show |
FAM81B | ENSG00000153347.10 | transcript | ENST00000283357.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FAM81B_chr5_95386366_95455441 | 95439236 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01074.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0080a0001c0001t0001g0086others(18): Show | 22 | 348 | 0.0632 | 8 | c.893 others(25): Show |
FAM81B | ENSG00000153347.10 | transcript | ENST00000283357.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FAM81B_chr5_95386366_95455441 | 95455370 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG02258.hp2 HG02572.hp2 others(12): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0002t0001a0005c0007t0001 | a0001c0001t0001g0103a0001c0001t0001g0118a0001c0001t0001g0130others(11): Show | 15 | 348 | 0.0431 | 8 | c.*50 others(19): Show |
FAM81B | ENSG00000153347.10 | transcript | ENST00000283357.10 | protein_coding | 4930 | chr5 | TogoVar | ||||||
| FAM81B_chr5_95386366_95455441 | 95455402 | C | CACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG03540.hp2 HG03579.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0057a0001c0001t0002g0122a0001c0001t0002g0215others(3): Show | 6 | 348 | 0.0172 | 8 | c.*51 others(19): Show |
FAM81B | ENSG00000153347.10 | transcript | ENST00000283357.10 | protein_coding | 4962 | chr5 | TogoVar | ||||||
| FAM83B_chr6_54841771_54950099 | 54876278 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18906.hp2 NA18964.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0004others(1): Show | a0001c0001t0010a0001c0008t0005a0002c0004t0003others(1): Show | a0001c0001t0010g0140a0001c0008t0005g0012a0002c0004t0003g0155others(1): Show | 4 | 272 | 0.0147 | 8 | c.444 others(25): Show |
FAM83B | ENSG00000168143.9 | transcript | ENST00000306858.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM83B_chr6_54841771_54950099 | 54911140 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00642.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0012a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0008others(8): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0004g0052others(19): Show | 22 | 272 | 0.0809 | 8 | c.445 others(27): Show |
FAM83B | ENSG00000168143.9 | transcript | ENST00000306858.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM83C_chr20_35280731_35297425 | 35286385 | G | GTGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01257.hp1 HG01257.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0025a0001c0001t0011g0051 | 3 | 398 | 0.0075 | 8 | c.*14 others(17): Show |
FAM83C | ENSG00000125998.8 | transcript | ENST00000374408.4 | protein_coding | 4/4 | 149 | chr20 | TogoVar | |||||
| FAM83F_chr22_39989954_40048534 | 40042398 | C | CGTAAGTC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG02647.hp1 HG02895.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0025a0001c0001t0027a0001c0001t0040others(2): Show | a0001c0001t0025g0139a0001c0001t0025g0140a0001c0001t0027g0137others(5): Show | 8 | 234 | 0.0342 | 8 | c.*12 others(21): Show |
FAM83F | ENSG00000133477.17 | transcript | ENST00000333407.11 | protein_coding | 5/5 | 12837 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
| FAM86B1_chr8_12177106_12199082 | 12192680 | A | ATTTATTT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01257.hp1 HG02109.hp2 others(7): Show |
a0005a0011a0012 | a0005c0007a0005c0012a0011c0013others(1): Show | a0005c0007t0004a0005c0007t0012a0005c0012t0004others(4): Show | a0005c0007t0004g0025a0005c0007t0004g0028a0005c0007t0004g0029others(7): Show | 10 | 176 | 0.0568 | 8 | c.97- others(21): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 1/6 | chr8 | TogoVar | ||||||
| FAM86B2_chr8_12419421_12441400 | 12434953 | A | ATTTATTT others(1): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
a0006 | a0006c0006a0006c0012 | a0006c0006t0008a0006c0012t0011 | a0006c0006t0008g0001a0006c0012t0011g0005 | 3 | 50 | 0.0600 | 8 | c.97- others(21): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
| FAM89A_chr1_231013958_231045254 | 231024520 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0047a0001c0001t0003g0049a0001c0001t0003g0252others(1): Show | 6 | 450 | 0.0133 | 8 | c.292 others(25): Show |
FAM89A | ENSG00000182118.8 | transcript | ENST00000366654.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
| FAM8A1_chr6_17595302_17616715 | 17596069 | A | ACTATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01243.hp2 HG02647.hp2 others(15): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0077a0001c0001t0002g0015a0001c0001t0004g0004others(7): Show | 18 | 374 | 0.0481 | 8 | c.-43 others(19): Show |
FAM8A1 | ENSG00000137414.7 | transcript | ENST00000259963.4 | protein_coding | 4232 | chr6 | TogoVar | ||||||
| FAM98B_chr15_38449127_38492710 | 38466182 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG03942.hp2 |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0005a0002c0007t0003 | a0001c0003t0005g0055a0002c0007t0003g0254 | 3 | 400 | 0.0075 | 8 | c.352 others(23): Show |
FAM98B | ENSG00000171262.11 | transcript | ENST00000397609.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| FAM9A_chrX_8785795_8806383 | 8803703 | T | TTCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG02280.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0007 | 4 | 303 | 0.0132 | 8 | c.-24 others(19): Show |
FAM9A | ENSG00000183304.10 | transcript | ENST00000381003.7 | protein_coding | 2321 | chrX | TogoVar | ||||||
| FAM9B_chrX_9019232_9039127 | 9021193 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 NA19057.hp2 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 3 | 258 | 0.0116 | 8 | c.*42 others(19): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 3038 | chrX | TogoVar | ||||||
| FAM9B_chrX_9019232_9039127 | 9021723 | T | TATTATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 258 | 0.0039 | 8 | c.*36 others(19): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2508 | chrX | TogoVar | ||||||
| FAM9B_chrX_9019232_9039127 | 9036257 | G | GTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01891.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0053 | 8 | 258 | 0.0310 | 8 | c.-24 others(19): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2131 | chrX | TogoVar | ||||||
| FAN1_chr15_30898915_30948108 | 30907205 | C | CTTTGGGA others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(9): Show |
a0001a0008a0011 | a0001c0004a0008c0012a0011c0010 | a0001c0004t0002a0001c0004t0007a0008c0012t0002others(1): Show | a0001c0004t0002g0004a0001c0004t0007g0004a0001c0004t0007g0029others(3): Show | 12 | 303 | 0.0396 | 8 | c.123 others(25): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 2/14 | chr15 | TogoVar | ||||||
| FAN1_chr15_30898915_30948108 | 30928506 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01099.hp1 HG01109.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0118a0001c0001t0002g0012a0001c0001t0002g0114others(17): Show | 26 | 303 | 0.0858 | 8 | c.248 others(23): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| FANCA_chr16_89732549_89821647 | 89736795 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00558.hp1 others(116): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0034a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0014a0001c0001t0001g0024a0001c0001t0001g0047others(116): Show | 119 | 334 | 0.3563 | 8 | c.*17 others(19): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 753 | chr16 | TogoVar | ||||||
| FANCA_chr16_89732549_89821647 | 89750501 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00621.hp1 others(18): Show |
a0005a0008a0016 | a0005c0005a0008c0008a0016c0019 | a0005c0005t0001a0005c0005t0014a0008c0008t0001others(1): Show | a0005c0005t0001g0036a0005c0005t0001g0066a0005c0005t0001g0067others(18): Show | 21 | 334 | 0.0629 | 8 | c.306 others(25): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 31/42 | chr16 | TogoVar | ||||||
| FANCA_chr16_89732549_89821647 | 89759318 | T | TTAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00735.hp1 others(5): Show |
a0003a0009a0038 | a0003c0003a0009c0010a0038c0023 | a0003c0003t0002a0009c0010t0002a0038c0023t0002 | a0003c0003t0002g0240a0003c0003t0002g0274a0003c0003t0002g0292others(5): Show | 8 | 334 | 0.0240 | 8 | c.285 others(25): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 29/42 | chr16 | TogoVar | ||||||
| FANCA_chr16_89732549_89821647 | 89795284 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(110): Show |
a0001a0002a0005others(13): Show | a0001c0001a0001c0029a0001c0030others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0014a0001c0001t0001g0024a0001c0001t0001g0048others(108): Show | 113 | 334 | 0.3383 | 8 | c.100 others(25): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 11/42 | chr16 | TogoVar | ||||||
| FANCA_chr16_89732549_89821647 | 89812666 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03239.hp2 HG03704.hp1 others(7): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0005a0002c0006t0008 | a0002c0002t0001g0216a0002c0006t0005g0217a0002c0006t0005g0219others(7): Show | 10 | 334 | 0.0299 | 8 | c.284 others(25): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 3/42 | chr16 | TogoVar | ||||||
| FANCA_chr16_89732549_89821647 | 89813806 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02080.hp1 HG02258.hp2 others(14): Show |
a0002a0003a0007others(2): Show | a0002c0002a0003c0003a0007c0009others(2): Show | a0002c0002t0001a0003c0003t0002a0007c0009t0001others(2): Show | a0002c0002t0001g0030a0002c0002t0001g0083a0002c0002t0001g0084others(14): Show | 17 | 334 | 0.0509 | 8 | c.283 others(23): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 3/42 | chr16 | TogoVar | ||||||
| FANCC_chr9_95094054_95322709 | 95155343 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG01243.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0272a0001c0001t0001g0273a0001c0001t0001g0274others(1): Show | 4 | 278 | 0.0144 | 8 | c.522 others(25): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 6/14 | chr9 | TogoVar | ||||||
| FANCC_chr9_95094054_95322709 | 95170637 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG01071.hp1 others(26): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0068a0001c0001t0001g0080a0001c0001t0001g0087others(26): Show | 29 | 278 | 0.1043 | 8 | c.521 others(23): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 6/14 | chr9 | TogoVar | ||||||
| FANCC_chr9_95094054_95322709 | 95263533 | T | TATAGATA others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01516.hp1 HG01517.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0024others(1): Show | a0001c0001t0001g0057a0001c0001t0001g0068a0001c0001t0001g0078others(7): Show | 10 | 278 | 0.0360 | 8 | c.-78 others(27): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 1/14 | chr9 | TogoVar | ||||||
| FANCC_chr9_95094054_95322709 | 95301175 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01071.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0060a0001c0001t0001g0061others(2): Show | 5 | 278 | 0.0180 | 8 | c.-79 others(27): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 1/14 | chr9 | TogoVar | ||||||
| FANCC_chr9_95094054_95322709 | 95311709 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01071.hp1 HG01081.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0081others(27): Show | 30 | 278 | 0.1079 | 8 | c.-79 others(25): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 1/14 | chr9 | TogoVar | ||||||
| FANCD2OS_chr3_10098937_10113255 | 10112493 | A | ATTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01081.hp2 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0002 | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0034others(15): Show | 33 | 346 | 0.0954 | 8 | c.-44 others(19): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 4239 | chr3 | TogoVar | ||||||
| FANCD2_chr3_10021437_10106932 | 10022938 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01069.hp2 others(80): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0002c0002others(7): Show | a0001c0001t0003a0001c0011t0002a0001c0011t0003others(14): Show | a0001c0001t0003g0136a0001c0001t0003g0138a0001c0001t0003g0139others(80): Show | 83 | 242 | 0.3430 | 8 | c.-35 others(19): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3498 | chr3 | TogoVar | ||||||
| FANCD2_chr3_10021437_10106932 | 10033698 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03654.hp2 HG04184.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0177a0002c0002t0005g0181a0002c0002t0005g0218others(3): Show | 6 | 242 | 0.0248 | 8 | c.205 others(23): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FANCD2_chr3_10021437_10106932 | 10054428 | T | TGTATATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG01081.hp1 others(31): Show |
a0001a0002a0006 | a0001c0011a0002c0002a0006c0006 | a0001c0011t0003a0002c0002t0002a0002c0002t0005others(6): Show | a0001c0011t0003g0239a0002c0002t0002g0179a0002c0002t0002g0185others(31): Show | 34 | 242 | 0.1405 | 8 | c.165 others(27): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FANCD2_chr3_10021437_10106932 | 10054473 | A | ATATTTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01258.hp2 others(3): Show |
a0002a0011 | a0002c0002a0002c0012a0011c0021 | a0002c0002t0002a0002c0002t0005a0002c0002t0006others(2): Show | a0002c0002t0002g0206a0002c0002t0005g0213a0002c0002t0005g0230others(3): Show | 6 | 242 | 0.0248 | 8 | c.165 others(27): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FANCF_chr11_22617533_22630823 | 22619941 | T | TTCTCTCT others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(120): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0010a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(7): Show | 123 | 420 | 0.2929 | 8 | c.*47 others(19): Show |
FANCF | ENSG00000183161.6 | transcript | ENST00000327470.6 | protein_coding | 2591 | chr11 | TogoVar | ||||||
| FANCI_chr15_89238979_89322131 | 89313973 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG03130.hp2 others(6): Show |
a0001a0002 | a0001c0003a0001c0012a0002c0002 | a0001c0003t0002a0001c0012t0003a0002c0002t0002 | a0001c0003t0002g0043a0001c0012t0003g0084a0001c0012t0003g0087others(6): Show | 9 | 346 | 0.0260 | 8 | c.372 others(25): Show |
FANCI | ENSG00000140525.20 | transcript | ENST00000310775.12 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| FANCM_chr14_45130930_45205890 | 45148198 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(21): Show |
a0003a0005a0027 | a0003c0002a0005c0004a0027c0027 | a0003c0002t0001a0005c0004t0001a0027c0027t0001 | a0003c0002t0001g0002a0003c0002t0001g0174a0003c0002t0001g0175others(19): Show | 24 | 238 | 0.1008 | 8 | c.760 others(23): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| FANCM_chr14_45130930_45205890 | 45148200 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02809.hp1 HG03453.hp2 |
a0004a0018 | a0004c0005a0018c0024 | a0004c0005t0001a0018c0024t0001 | a0004c0005t0001g0210a0004c0005t0001g0211a0018c0024t0001g0144 | 3 | 238 | 0.0126 | 8 | c.760 others(23): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| FANK1_chr10_125891564_126014592 | 125919195 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00642.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0076a0001c0001t0001g0093others(14): Show | 17 | 370 | 0.0460 | 8 | c.13+ others(25): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| FANK1_chr10_125891564_126014592 | 125972893 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02258.hp1 HG02622.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0011a0001c0001t0001g0047a0001c0001t0001g0048others(16): Show | 19 | 370 | 0.0514 | 8 | c.14- others(23): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| FAP_chr2_162165684_162248445 | 162179759 | G | GATCTATC others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02970.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0110a0001c0001t0001g0213a0001c0001t0003g0217others(1): Show | 4 | 234 | 0.0171 | 8 | c.186 others(27): Show |
FAP | ENSG00000078098.15 | transcript | ENST00000188790.9 | protein_coding | 21/25 | chr2 | TogoVar | ||||||
| FAR1_chr11_13663668_13737346 | 13708447 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0194a0001c0001t0007g0195a0001c0001t0013g0200 | 3 | 352 | 0.0085 | 8 | c.545 others(23): Show |
FAR1 | ENSG00000197601.14 | transcript | ENST00000354817.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| FAR1_chr11_13663668_13737346 | 13708447 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01167.hp1 HG01257.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0019a0001c0001t0003g0206a0001c0001t0003g0207others(15): Show | 20 | 352 | 0.0568 | 8 | c.545 others(23): Show |
FAR1 | ENSG00000197601.14 | transcript | ENST00000354817.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| FAR1_chr11_13663668_13737346 | 13708447 | G | GCGCGCAC others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02895.hp1 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0144a0001c0001t0003g0239a0001c0001t0006g0029others(1): Show | 4 | 352 | 0.0114 | 8 | c.545 others(23): Show |
FAR1 | ENSG00000197601.14 | transcript | ENST00000354817.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| FAR1_chr11_13663668_13737346 | 13735224 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(115): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(106): Show | 118 | 352 | 0.3352 | 8 | c.*64 others(19): Show |
FAR1 | ENSG00000197601.14 | transcript | ENST00000354817.8 | protein_coding | 2879 | chr11 | TogoVar | ||||||
| FAR2_chr12_29144278_29340616 | 29157106 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01433.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0081a0001c0001t0002g0017a0001c0001t0002g0020others(9): Show | 12 | 326 | 0.0368 | 8 | c.-39 others(25): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FAR2_chr12_29144278_29340616 | 29180721 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02109.hp1 HG04184.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0002 | a0001c0001t0003g0040a0001c0001t0003g0128a0001c0002t0001g0098others(3): Show | 6 | 326 | 0.0184 | 8 | c.-39 others(27): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FAR2_chr12_29144278_29340616 | 29194521 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01891.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0087a0001c0001t0001g0129a0001c0001t0002g0030others(28): Show | 31 | 326 | 0.0951 | 8 | c.-39 others(27): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FAR2_chr12_29144278_29340616 | 29209692 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01981.hp2 HG02040.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0031a0001c0001t0002g0017a0001c0001t0002g0280others(4): Show | 7 | 326 | 0.0215 | 8 | c.-39 others(27): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |