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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EYS_chr6_63714980_65712226 | 64296553 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0010 | 1 | 24 | 0.0417 | -32 | c.619 others(53): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64686825 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0015 | a0015c0011 | a0015c0011t0002 | a0015c0011t0002g0018 | 1 | 24 | 0.0417 | -32 | c.344 others(53): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65443304 | GTGTACAC others(25): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0010 | a0010c0003 | a0010c0003t0001 | a0010c0003t0001g0016 | 1 | 24 | 0.0417 | -32 | c.863 others(51): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 5/42 | chr6 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113154245 | GAGGGGCG others(25): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02723.hp1 others(3): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0005 | a0001c0002t0001a0001c0004t0001a0003c0005t0001 | a0001c0002t0001g0028a0001c0002t0001g0109a0001c0002t0001g0148others(3): Show | 6 | 412 | 0.0146 | -32 | c.*47 others(43): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4717 | chr13 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113154290 | CGCAGGGC others(25): Show |
C | downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 412 | 0.0024 | -32 | c.*47 others(43): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4762 | chr13 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113154293 | AGGGCGCG others(25): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01168.hp2 HG01891.hp2 others(29): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0019others(26): Show | 32 | 412 | 0.0777 | -32 | c.*47 others(43): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4765 | chr13 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6316077 | GCATATAT others(25): Show |
G | intron_variant | MODIFIER | HG02698.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0013 | 1 | 292 | 0.0034 | -32 | c.130 others(49): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6316078 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01346.hp1 HG02615.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0260others(5): Show | 8 | 292 | 0.0274 | -32 | c.130 others(49): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | ||||||
F5_chr1_169506951_169591481 | 169577560 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0007 | a0007c0063 | a0007c0063t0006 | a0007c0063t0006g0261 | 1 | 306 | 0.0033 | -32 | c.250 others(49): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 2/24 | chr1 | TogoVar | ||||||
FABP3_chr1_31360253_31378076 | 31375663 | TGCCTCCC others(25): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011a0001c0001t0005g0087 | 7 | 388 | 0.0180 | -32 | c.-26 others(43): Show |
FABP3 | ENSG00000121769.8 | transcript | ENST00000373713.7 | protein_coding | 2588 | chr1 | TogoVar | ||||||
FABP9_chr8_81453253_81466579 | 81461169 | AAATTCTA others(25): Show |
A | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 430 | 0.0023 | -32 | c.73+ others(45): Show |
FABP9 | ENSG00000205186.4 | transcript | ENST00000379071.4 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61824423 | AGAGAGAG others(25): Show |
A | upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0129 | 1 | 280 | 0.0036 | -32 | c.-39 others(43): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3876 | chr11 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50739288 | ATGTACAT others(25): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 190 | 0.0053 | -32 | c.460 others(47): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 5/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50746270 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 190 | 0.0053 | -32 | c.368 others(49): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 4/18 | chr1 | TogoVar | ||||||
FAF2_chr5_176443385_176515074 | 176451784 | GTGTATAT others(25): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0095a0001c0001t0003g0002a0001c0001t0003g0027others(61): Show | 65 | 372 | 0.1747 | -32 | c.63+ others(47): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FAF2_chr5_176443385_176515074 | 176451845 | CACATATA others(25): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017 | a0001c0001t0006g0111a0001c0001t0017g0281 | 2 | 372 | 0.0054 | -32 | c.63+ others(47): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FAF2_chr5_176443385_176515074 | 176451847 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0282 | 1 | 372 | 0.0027 | -32 | c.63+ others(47): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FAF2_chr5_176443385_176515074 | 176451868 | ATACACAC others(25): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0262 | 1 | 372 | 0.0027 | -32 | c.63+ others(47): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FAM107B_chr10_14513557_14779897 | 14569393 | GTGCACAT others(25): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 272 | 0.0037 | -32 | c.470 others(51): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
FAM117B_chr2_202629969_202774757 | 202640295 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0130 | a0001c0001t0130g0230 | 1 | 318 | 0.0031 | -32 | c.601 others(49): Show |
FAM117B | ENSG00000138439.12 | transcript | ENST00000392238.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FAM135B_chr8_138125023_138502261 | 138425982 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0156 | 1 | 212 | 0.0047 | -32 | c.-19 others(51): Show |
FAM135B | ENSG00000147724.12 | transcript | ENST00000395297.6 | protein_coding | 1/19 | chr8 | TogoVar | ||||||
FAM13B_chr5_137932960_138038079 | 137972147 | GAGACACA others(25): Show |
G | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 322 | 0.0031 | -32 | c.118 others(51): Show |
FAM13B | ENSG00000031003.11 | transcript | ENST00000689681.1 | protein_coding | 10/23 | chr5 | TogoVar | ||||||
FAM149B1_chr10_73163119_73249504 | 73196189 | AACTTTAA others(25): Show |
A | intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 236 | 0.0042 | -32 | c.542 others(49): Show |
FAM149B1 | ENSG00000138286.15 | transcript | ENST00000242505.11 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FAM161A_chr2_61819848_61859060 | 61849063 | TATATAAA others(25): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 400 | 0.0025 | -32 | c.183 others(49): Show |
FAM161A | ENSG00000170264.13 | transcript | ENST00000404929.6 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
FAM163B_chr9_133572081_133614389 | 133590055 | CCCTTCCC others(25): Show |
C | intron_variant | MODIFIER | HG02129.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0257a0001c0001t0003g0092 | 2 | 382 | 0.0052 | -32 | c.-23 others(49): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
FAM163B_chr9_133572081_133614389 | 133590088 | CCCTTCCC others(25): Show |
C | intron_variant | MODIFIER | HG00438.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 2 | 382 | 0.0052 | -32 | c.-23 others(49): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
FAM168A_chr11_73395487_73603112 | 73430246 | ATGTGTGT others(25): Show |
A | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 180 | 0.0056 | -32 | c.151 others(47): Show |
FAM168A | ENSG00000054965.11 | transcript | ENST00000356467.5 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
FAM171A2_chr17_44348215_44368853 | 44368118 | AAATATAT others(25): Show |
A | upstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 416 | 0.0024 | -32 | c.-44 others(43): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4266 | chr17 | TogoVar | ||||||
FAM171A2_chr17_44348215_44368853 | 44368126 | ATATATAT others(25): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0032 | 1 | 416 | 0.0024 | -32 | c.-44 others(43): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4274 | chr17 | TogoVar | ||||||
FAM171A2_chr17_44348215_44368853 | 44368128 | ATATATAT others(25): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02630.hp1 HG02723.hp1 others(2): Show |
a0001a0003 | a0001c0005a0003c0007 | a0001c0005t0002a0003c0007t0002a0003c0007t0010 | a0001c0005t0002g0031a0001c0005t0002g0032a0003c0007t0002g0070others(1): Show | 5 | 416 | 0.0120 | -32 | c.-44 others(43): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4276 | chr17 | TogoVar | ||||||
FAM184B_chr4_17624306_17786621 | 17708663 | CTATATAT others(25): Show |
C | intron_variant | MODIFIER | NA19081.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0189 | 1 | 238 | 0.0042 | -32 | c.894 others(47): Show |
FAM184B | ENSG00000047662.5 | transcript | ENST00000265018.4 | protein_coding | 2/17 | chr4 | TogoVar | ||||||
FAM185A_chr7_102743999_102814225 | 102807781 | GGGCGTGG others(25): Show |
G | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 380 | 0.0026 | -32 | c.106 others(49): Show |
FAM185A | ENSG00000222011.9 | transcript | ENST00000413034.3 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
FAM186A_chr12_50322309_50401609 | 50379686 | TGAGGCAG others(25): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0233 | 1 | 332 | 0.0030 | -32 | c.193 others(51): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
FAM20A_chr17_68530116_68606367 | 68571987 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG03491.hp2 HG03492.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0006 | a0001c0001t0002a0002c0003t0001a0003c0006t0001 | a0001c0001t0002g0180a0002c0003t0001g0181a0003c0006t0001g0004 | 4 | 380 | 0.0105 | -32 | c.405 others(51): Show |
FAM20A | ENSG00000108950.12 | transcript | ENST00000592554.2 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
FAM222B_chr17_28750980_28847790 | 28814532 | TAATCTTG others(25): Show |
T | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 276 | 0.0036 | -32 | c.-41 others(51): Show |
FAM222B | ENSG00000173065.14 | transcript | ENST00000581407.6 | protein_coding | 1/2 | chr17 | TogoVar | ||||||
FAM227B_chr15_49321970_49625818 | 49525665 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 294 | 0.0034 | -32 | c.874 others(51): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 10/15 | chr15 | TogoVar | ||||||
FAM234B_chr12_13039381_13088449 | 13048504 | TTCTGTTT others(25): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(165): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0014a0001c0015others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(16): Show | a0001c0002t0001g0002a0001c0002t0001g0011a0001c0002t0001g0013others(102): Show | 168 | 424 | 0.3962 | -32 | c.37+ others(47): Show |
FAM234B | ENSG00000084444.14 | transcript | ENST00000197268.13 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FAM53A_chr4_1634887_1689313 | 1672309 | AACCCATG others(25): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(57): Show |
a0001a0004a0005others(2): Show | a0001c0002a0001c0017a0004c0007others(3): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0015others(14): Show | a0001c0002t0003g0153a0001c0002t0003g0160a0001c0002t0003g0161others(56): Show | 60 | 350 | 0.1714 | -32 | c.-16 others(51): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
FAM78B_chr1_166064299_166172001 | 166109858 | ATATGTAT others(25): Show |
A | intron_variant | MODIFIER | HG00558.hp2 NA18949.hp1 NA19002.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0157a0001c0002t0003g0133a0001c0002t0003g0261 | 3 | 318 | 0.0094 | -32 | c.264 others(51): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
FAM86B1_chr8_12177106_12199082 | 12182406 | TGGGTTGT others(25): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02486.hp2 others(7): Show |
a0005a0011a0014others(1): Show | a0005c0007a0005c0012a0011c0013others(2): Show | a0005c0007t0004a0005c0007t0012a0005c0012t0004others(5): Show | a0005c0007t0004g0025a0005c0007t0004g0028a0005c0007t0004g0029others(7): Show | 10 | 176 | 0.0568 | -32 | c.*11 others(43): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 7/7 | 1168 | chr8 | TogoVar | |||||
FAM98A_chr2_33578660_33604299 | 33594648 | TATACACA others(25): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0060a0001c0001t0001g0076 | 4 | 406 | 0.0099 | -32 | c.202 others(47): Show |
FAM98A | ENSG00000119812.20 | transcript | ENST00000238823.13 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
FAM98A_chr2_33578660_33604299 | 33594668 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | 406 | 0.0049 | -32 | c.202 others(47): Show |
FAM98A | ENSG00000119812.20 | transcript | ENST00000238823.13 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
FAM98A_chr2_33578660_33604299 | 33594676 | TATACACA others(25): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 2 | 406 | 0.0049 | -32 | c.202 others(47): Show |
FAM98A | ENSG00000119812.20 | transcript | ENST00000238823.13 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9021464 | ATATTATA others(25): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0018 | 1 | 258 | 0.0039 | -32 | c.*39 others(43): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2767 | chrX | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9022175 | AATATATA others(25): Show |
A | downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 258 | 0.0039 | -32 | c.*32 others(43): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2056 | chrX | TogoVar | ||||||
FAN1_chr15_30898915_30948108 | 30929678 | CATATAAT others(25): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02615.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0009a0001c0001t0003g0059a0001c0001t0003g0061others(1): Show | 6 | 303 | 0.0198 | -32 | c.278 others(49): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
FAN1_chr15_30898915_30948108 | 30929832 | AATATAAT others(25): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG03209.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0031a0001c0001t0009g0110a0001c0001t0009g0111others(1): Show | 4 | 303 | 0.0132 | -32 | c.278 others(49): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
FANCD2OS_chr3_10098937_10113255 | 10105763 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01928.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0035a0001c0001t0007g0048 | 5 | 346 | 0.0145 | -32 | c.-8- others(46): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
FANCD2OS_chr3_10098937_10113255 | 10105765 | AAAAAAAT others(25): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03130.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 3 | 346 | 0.0087 | -32 | c.-8- others(46): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
FANCD2OS_chr3_10098937_10113255 | 10105772 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG03017.hp2 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 2 | 346 | 0.0058 | -32 | c.-8- others(46): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar |