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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM227B_chr15_49321970_49625818 | 49371940 | A | AAATGAAA others(18): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01496.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(1): Show | a0001c0001t0001g0190 a0001c0001t0006g0268 a0001c0001t0012g0100 others(6): Show |
9 | 290 | 0.0310 | 25 | c.101 others(42): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | |||||||
FAM227B_chr15_49321970_49625818 | 49371966 | A | AAATGAAA others(18): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG02040.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010 | a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0241 others(7): Show |
10 | 272 | 0.0368 | 25 | c.101 others(42): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | |||||||
FAM228B_chr2_24118469_24174638 | 24166054 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG03492.hp1 NA20805.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0026 a0002c0007t0001g0030 |
2 | 7 | 0.2857 | 25 | c.933 others(42): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM228B_chr2_24118469_24174638 | 24166054 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03710.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0017 a0002c0007t0001g0020 |
2 | 7 | 0.2857 | 25 | c.933 others(42): Show |
FAM228B | ENSG00000219626.9 | transcript | ENST00000615575.5 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
FAM236B_chrX_72776865_72787660 | 72776950 | T | TTCCTCCT others(18): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 57 | 0.0175 | 25 | c.*50 others(36): Show |
FAM236B | ENSG00000268994.3 | transcript | ENST00000596535.3 | protein_coding | 4914 | chrX | TogoVar | |||||||
FAM237A_chr2_206637487_206654365 | 206646224 | A | ACCCGGGA others(18): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 462 | 0.0022 | 25 | c.412 others(42): Show |
FAM237A | ENSG00000235118.9 | transcript | ENST00000441223.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM241A_chr4_112140454_112200256 | 112197333 | T | TAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0106 | 1 | 8 | 0.1250 | 25 | c.*10 others(38): Show |
FAM241A | ENSG00000174749.6 | transcript | ENST00000309733.6 | protein_coding | 2078 | chr4 | TogoVar | |||||||
FAM32A_chr19_16180410_16197046 | 16189668 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 101 | 0.0099 | 25 | c.217 others(40): Show |
FAM32A | ENSG00000105058.12 | transcript | ENST00000263384.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FAM53A_chr4_1634887_1689313 | 1649908 | C | CTGTGAGG others(18): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03041.hp1 |
a0004 | a0004c0006 | a0004c0006t0028a0004c0006t0042 | a0004c0006t0028g0012 a0004c0006t0042g0142 |
2 | 348 | 0.0057 | 25 | c.882 others(42): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 4/4 | chr4 | TogoVar | |||||||
FAM53A_chr4_1634887_1689313 | 1649937 | C | CTGTGAGG others(18): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0050 | 1 | 348 | 0.0029 | 25 | c.882 others(42): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 4/4 | chr4 | TogoVar | |||||||
FAM53A_chr4_1634887_1689313 | 1649995 | C | CTGTGAGG others(18): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0050 | 1 | 348 | 0.0029 | 25 | c.882 others(42): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 4/4 | chr4 | TogoVar | |||||||
FAM53A_chr4_1634887_1689313 | 1650053 | C | CTGTGAGG others(18): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0070 | 1 | 348 | 0.0029 | 25 | c.882 others(42): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 4/4 | chr4 | TogoVar | |||||||
FAM78B_chr1_166064299_166172001 | 166094047 | G | GTGTGTGT others(18): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 314 | 0.0032 | 25 | c.264 others(44): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
FAM83E_chr19_48594961_48620076 | 48602704 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0107 | 1 | 199 | 0.0050 | 25 | c.117 others(42): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
FAM83E_chr19_48594961_48620076 | 48616643 | C | CCAGCACA others(18): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG01433.hp1 HG02027.hp1 others(9): Show |
a0001a0003a0004 | a0001c0003a0003c0002a0004c0006 | a0001c0003t0014a0003c0002t0001a0003c0002t0002others(2): Show | a0001c0003t0014g0101 a0003c0002t0001g0001 a0003c0002t0001g0078 others(9): Show |
12 | 213 | 0.0563 | 25 | c.-31 others(36): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 1568 | chr19 | TogoVar | |||||||
FAM83F_chr22_39989954_40048534 | 40004267 | A | AATTTTAT others(18): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02698.hp1 HG02698.hp2 others(4): Show |
a0001a0011 | a0001c0001a0011c0015 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0002g0105 a0001c0001t0003g0089 a0001c0001t0003g0104 others(4): Show |
7 | 86 | 0.0814 | 25 | c.489 others(42): Show |
FAM83F | ENSG00000133477.17 | transcript | ENST00000333407.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAN1_chr15_30898915_30948108 | 30929655 | A | ATGAAATA others(18): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0185 | 1 | 302 | 0.0033 | 25 | c.278 others(42): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | chr15 | TogoVar | |||||||
FAN1_chr15_30898915_30948108 | 30929819 | T | TCATATAT others(18): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 266 | 0.0038 | 25 | c.278 others(42): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | chr15 | TogoVar | |||||||
FANCA_chr16_89732549_89821647 | 89759318 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0247 | 1 | 14 | 0.0714 | 25 | c.285 others(42): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 29/42 | chr16 | TogoVar | |||||||
FANCA_chr16_89732549_89821647 | 89759318 | T | TTAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0254 | 1 | 14 | 0.0714 | 25 | c.285 others(42): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 29/42 | chr16 | TogoVar | |||||||
FANCA_chr16_89732549_89821647 | 89771155 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02572.hp2 HG02615.hp2 |
a0006a0029 | a0006c0007a0029c0049 | a0006c0007t0004a0029c0049t0004 | a0006c0007t0004g0312 a0006c0007t0004g0316 a0029c0049t0004g0206 |
3 | 274 | 0.0109 | 25 | c.215 others(42): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 23/42 | chr16 | TogoVar | |||||||
FANCC_chr9_95094054_95322709 | 95155257 | G | GAGGGGAG others(18): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 30 | 0.0333 | 25 | c.522 others(42): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 6/14 | chr9 | TogoVar | |||||||
FANCC_chr9_95094054_95322709 | 95271927 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 a0001c0001t0002g0278 |
2 | 93 | 0.0215 | 25 | c.-78 others(44): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
FANCD2_chr3_10021437_10106932 | 10036086 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01258.hp2 HG02738.hp1 |
a0002 | a0002c0002a0002c0012 | a0002c0002t0002a0002c0012t0005 | a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0012t0005g0190 |
3 | 139 | 0.0216 | 25 | c.439 others(40): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 6/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FANK1_chr10_125891564_126014592 | 125919195 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02040.hp1 HG02056.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0054 a0001c0001t0001g0095 others(8): Show |
11 | 38 | 0.2895 | 25 | c.13+ others(42): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98277149 | C | CACACACA others(18): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0116 | 1 | 207 | 0.0048 | 25 | c.171 others(44): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | chr13 | TogoVar | |||||||
FARP1_chr13_98138094_98460176 | 98401415 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | HG01517.hp1 HG01943.hp2 HG02055.hp1 others(6): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0015others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0046 a0001c0001t0004g0145 a0001c0001t0005g0082 others(6): Show |
9 | 13 | 0.6923 | 25 | c.141 others(44): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | chr13 | TogoVar | |||||||
FARP1_chr13_98138094_98460176 | 98433775 | G | GTCCTGGC others(18): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0211 | 1 | 216 | 0.0046 | 25 | c.214 others(44): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5338790 | A | ACCCCCCC others(18): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 | 1 | 168 | 0.0060 | 25 | c.-21 others(44): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5341235 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 64 | 0.0156 | 25 | c.-21 others(44): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5486998 | A | ACCGTCTA others(18): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 168 | 0.0060 | 25 | c.904 others(44): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FASTK_chr7_151071624_151085809 | 151073289 | T | TTATTTTA others(18): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 406 | 0.0025 | 25 | c.*34 others(36): Show |
FASTK | ENSG00000164896.21 | transcript | ENST00000297532.11 | protein_coding | 3334 | chr7 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186610685 | A | ATTATATA others(18): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00609.hp2 others(43): Show |
a0001a0003a0005others(9): Show | a0001c0001a0001c0020a0001c0073others(16): Show | a0001c0001t0002a0001c0001t0005a0001c0020t0002others(20): Show | a0001c0001t0002g0131 a0001c0001t0002g0153 a0001c0001t0002g0162 others(43): Show |
46 | 299 | 0.1538 | 25 | c.985 others(42): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 14/26 | chr4 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186610726 | A | AAATATAA others(18): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18948.hp2 |
a0014a0100 | a0014c0012a0100c0059 | a0014c0012t0005a0100c0059t0008 | a0014c0012t0005g0037 a0100c0059t0008g0040 |
2 | 336 | 0.0060 | 25 | c.985 others(42): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 14/26 | chr4 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92442111 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0037 | a0002c0001t0037g0035 | 1 | 23 | 0.0435 | 25 | c.329 others(46): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92754627 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0005 | a0005c0038 | a0005c0038t0056 | a0005c0038t0056g0112 | 1 | 27 | 0.0370 | 25 | c.367 others(44): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125423282 | G | GAAGTCCT others(18): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG01081.hp1 others(17): Show |
a0003a0005a0016 | a0003c0003a0003c0025a0005c0004others(3): Show | a0003c0003t0002a0003c0025t0004a0005c0004t0002others(4): Show | a0003c0003t0002g0290 a0003c0025t0004g0011 a0005c0004t0002g0079 others(17): Show |
20 | 315 | 0.0635 | 25 | c.701 others(44): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 7/17 | chr4 | TogoVar | |||||||
FAXDC2_chr5_154813492_154855603 | 154835883 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02809.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 a0001c0001t0002g0277 |
2 | 136 | 0.0147 | 25 | c.49- others(38): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 2/8 | chr5 | TogoVar | |||||||
FBLIM1_chr1_15753795_15791589 | 15787963 | A | AAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0013 | a0002c0013t0003 | a0002c0013t0003g0072 | 1 | 29 | 0.0345 | 25 | c.*33 others(36): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1375 | chr1 | TogoVar | |||||||
FBLN1_chr22_45497883_45606135 | 45602817 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG03516.hp2 NA19062.hp2 |
a0001a0003 | a0001c0001a0001c0006a0003c0026 | a0001c0001t0001a0001c0006t0001a0003c0026t0001 | a0001c0001t0001g0120 a0001c0006t0001g0313 a0003c0026t0001g0003 |
3 | 58 | 0.0517 | 25 | c.*23 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1683 | chr22 | TogoVar | |||||||
FBLN2_chr3_13544125_13643404 | 13633954 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01175.hp1 |
a0003a0004 | a0003c0024a0004c0013 | a0003c0024t0001a0004c0013t0001 | a0003c0024t0001g0091 a0004c0013t0001g0301 |
2 | 21 | 0.0952 | 25 | c.321 others(44): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 16/17 | chr3 | TogoVar | |||||||
FBLN7_chr2_112133385_112193218 | 112134887 | C | CTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00673.hp1 others(16): Show |
a0001a0009 | a0001c0001a0009c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0022 others(16): Show |
19 | 115 | 0.1652 | 25 | c.-37 others(36): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 3497 | chr2 | TogoVar | |||||||
FBLN7_chr2_112133385_112193218 | 112167869 | C | CGTTATGT others(18): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0024 a0001c0001t0001g0073 a0001c0001t0001g0109 others(11): Show |
15 | 56 | 0.2679 | 25 | c.406 others(42): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539918 | C | CTATCATA others(18): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0068 | 1 | 193 | 0.0052 | 25 | c.-23 others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1674 | chr5 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130636 | G | GGAAGGAA others(18): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0197 | 1 | 146 | 0.0068 | 25 | c.204 others(42): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130639 | A | AGAAAGGA others(18): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02132.hp2 NA18980.hp2 others(2): Show |
a0002a0014a0015others(1): Show | a0002c0001a0014c0196a0015c0051others(1): Show | a0002c0001t0002a0014c0196t0001a0015c0051t0001others(1): Show | a0002c0001t0002g0239 a0002c0001t0002g0241 a0014c0196t0001g0220 others(2): Show |
5 | 21 | 0.2381 | 25 | c.204 others(42): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130659 | G | GGAAAAGA others(18): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG01070.hp1 others(10): Show |
a0005a0017a0018others(6): Show | a0005c0005a0005c0024a0017c0156others(7): Show | a0005c0005t0001a0005c0005t0002a0005c0024t0002others(8): Show | a0005c0005t0001g0153 a0005c0005t0002g0245 a0005c0024t0002g0120 others(10): Show |
13 | 149 | 0.0872 | 25 | c.204 others(42): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBP2_chr9_94553720_94598824 | 94579050 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03831.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0290 a0001c0001t0002g0289 |
2 | 40 | 0.0500 | 25 | c.426 others(42): Show |
FBP2 | ENSG00000130957.5 | transcript | ENST00000375337.4 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132578367 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03927.hp1 NA19004.hp2 |
a0001a0003a0007 | a0001c0068a0003c0001a0007c0022 | a0001c0068t0003a0003c0001t0001a0007c0022t0002 | a0001c0068t0003g0007 a0003c0001t0001g0190 a0007c0022t0002g0115 |
3 | 344 | 0.0087 | 25 | c.183 others(44): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 15/18 | chr12 | TogoVar | |||||||
FBXL13_chr7_102806189_103079796 | 102867695 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0154 | 1 | 144 | 0.0069 | 25 | c.190 others(44): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 17/20 | chr7 | TogoVar |