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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPS8L1_chr19_55070869_55092923 | 55089221 | G | GCCCCC | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(39): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0018others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0018t0001others(1): Show | a0001c0001t0001g0102a0002c0002t0001g0002a0002c0002t0001g0006others(25): Show | 42 | 340 | 0.1235 | 5 | c.*16 others(16): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1299 | chr19 | TogoVar | ||||||
EPS8L2_chr11_701231_732727 | 714592 | C | CATTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(104): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0215a0001c0001t0002g0154a0001c0001t0004g0012others(91): Show | 107 | 406 | 0.2636 | 5 | c.165 others(22): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EPS8L2_chr11_701231_732727 | 720780 | C | CCGCCG | intron_variant | MODIFIER | HG01069.hp2 HG02572.hp1 HG02647.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0009 | a0001c0001t0006a0001c0003t0001a0002c0009t0006 | a0001c0001t0006g0350a0001c0003t0001g0173a0002c0009t0006g0277others(1): Show | 4 | 406 | 0.0099 | 5 | c.478 others(18): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EPSTI1_chr13_42881388_42997241 | 42888298 | T | TTCAGG | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01891.hp2 others(61): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0014others(15): Show | a0001c0001t0002g0184a0001c0001t0002g0191a0001c0001t0002g0196others(61): Show | 64 | 352 | 0.1818 | 5 | c.*19 others(14): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 11/11 | 195 | chr13 | TogoVar | |||||
EPSTI1_chr13_42881388_42997241 | 42950668 | A | AATACC | intron_variant | MODIFIER | HG00438.hp1 HG02040.hp2 HG02071.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0002g0345a0001c0001t0004g0132a0001c0001t0004g0146others(8): Show | 11 | 352 | 0.0313 | 5 | c.563 others(22): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 6/10 | chr13 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42955877 | T | TTGGCG | intron_variant | MODIFIER | HG00438.hp1 HG02027.hp2 HG02056.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0001t0018a0001c0001t0043others(5): Show | a0001c0001t0002g0234a0001c0001t0002g0345a0001c0001t0018g0005others(9): Show | 12 | 352 | 0.0341 | 5 | c.490 others(22): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42986404 | A | AGAACC | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(126): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(36): Show | a0001c0001t0002g0184a0001c0001t0002g0191a0001c0001t0002g0196others(126): Show | 129 | 352 | 0.3665 | 5 | c.188 others(22): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
EPYC_chr12_90958682_91009972 | 90962571 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG00741.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008a0001c0001t0001g0071a0001c0001t0001g0075others(12): Show | 18 | 346 | 0.0520 | 5 | c.*15 others(16): Show |
EPYC | ENSG00000083782.8 | transcript | ENST00000261172.8 | protein_coding | 1110 | chr12 | TogoVar | ||||||
EPYC_chr12_90958682_91009972 | 90964009 | C | CATTAT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(215): Show |
a0001a0004a0005 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(154): Show | 218 | 346 | 0.6301 | 5 | c.*14 others(14): Show |
EPYC | ENSG00000083782.8 | transcript | ENST00000261172.8 | protein_coding | 7/7 | 146 | chr12 | TogoVar | |||||
EPYC_chr12_90958682_91009972 | 90967847 | T | TGGGTG | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0020a0001c0001t0002g0042others(5): Show | 16 | 346 | 0.0462 | 5 | c.798 others(22): Show |
EPYC | ENSG00000083782.8 | transcript | ENST00000261172.8 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
EPYC_chr12_90958682_91009972 | 91002189 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00558.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(32): Show | 54 | 346 | 0.1561 | 5 | c.165 others(20): Show |
EPYC | ENSG00000083782.8 | transcript | ENST00000261172.8 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96798871 | C | CTTTTT | intron_variant | MODIFIER | HG02071.hp1 HG02572.hp2 HG03098.hp1 others(6): Show |
a0002a0016a0022 | a0002c0002a0016c0021a0022c0028 | a0002c0002t0001a0016c0021t0013a0022c0028t0023 | a0002c0002t0001g0228a0002c0002t0001g0229a0002c0002t0001g0230others(6): Show | 9 | 416 | 0.0216 | 5 | c.664 others(22): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96801854 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02970.hp1 others(4): Show |
a0002a0010 | a0002c0002a0010c0012 | a0002c0002t0001a0002c0002t0021a0010c0012t0001 | a0002c0002t0001g0254a0002c0002t0001g0255a0002c0002t0001g0257others(4): Show | 7 | 416 | 0.0168 | 5 | c.525 others(20): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 2/18 | chr5 | TogoVar | ||||||
ERAP1_chr5_96769484_96812945 | 96806961 | T | TTTTTG | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01361.hp1 others(13): Show |
a0001a0009a0019 | a0001c0001a0009c0009a0019c0026 | a0001c0001t0001a0001c0001t0002a0009c0009t0001others(4): Show | a0001c0001t0001g0166a0001c0001t0002g0167a0009c0009t0001g0031others(10): Show | 16 | 416 | 0.0385 | 5 | c.-18 others(20): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 1/18 | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96898572 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01496.hp1 others(13): Show |
a0001 | a0001c0004 | a0001c0004t0006a0001c0004t0007a0001c0004t0011others(1): Show | a0001c0004t0006g0128a0001c0004t0006g0130a0001c0004t0006g0131others(13): Show | 16 | 398 | 0.0402 | 5 | c.150 others(24): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBB4_chr2_211370717_212543802 | 211413305 | T | TAAAAA | intron_variant | MODIFIER | HG02717.hp1 HG02895.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0026 | a0001c0001t0007g0018a0001c0001t0007g0043a0001c0001t0026g0052 | 3 | 56 | 0.0536 | 5 | c.313 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211428211 | T | TTAAAA | intron_variant | MODIFIER | HG01192.hp1 HG01496.hp1 HG02809.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0011others(6): Show | a0001c0001t0006g0039a0001c0001t0008g0004a0001c0001t0008g0013others(8): Show | 11 | 56 | 0.1964 | 5 | c.271 others(22): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 22/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211435350 | T | TTAAAG | intron_variant | MODIFIER | HG01243.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0010a0001c0004t0021 | a0001c0001t0010g0022a0001c0004t0021g0009 | 2 | 56 | 0.0357 | 5 | c.248 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211493675 | A | ATATAT | intron_variant | MODIFIER | HG01069.hp2 HG01175.hp1 HG01192.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0002g0024others(27): Show | 30 | 56 | 0.5357 | 5 | c.248 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211710321 | T | TAATAA | intron_variant | MODIFIER | HG02895.hp2 HG03195.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0025a0001c0001t0003g0050a0001c0001t0007g0043others(1): Show | 4 | 56 | 0.0714 | 5 | c.112 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 9/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211734909 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0003g0017a0001c0001t0005g0044a0001c0001t0010g0005others(3): Show | 6 | 56 | 0.1071 | 5 | c.623 others(22): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 5/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211772955 | A | ATTTTT | intron_variant | MODIFIER | HG01175.hp2 HG03225.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0004g0033a0001c0001t0005g0015a0001c0001t0006g0039others(1): Show | 4 | 56 | 0.0714 | 5 | c.556 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211852636 | C | CTTTTT | intron_variant | MODIFIER | HG02922.hp1 HG03471.hp2 HG03516.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0016a0001c0001t0003g0049a0001c0001t0005g0044others(4): Show | 7 | 56 | 0.1250 | 5 | c.422 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211861111 | T | TTTATA | intron_variant | MODIFIER | HG02717.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0023 | a0001c0001t0003g0017a0001c0001t0023g0012 | 2 | 56 | 0.0357 | 5 | c.422 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211867024 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0002g0024a0001c0001t0002g0047a0001c0001t0004g0008others(3): Show | 6 | 56 | 0.1071 | 5 | c.422 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211878652 | G | GTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG02717.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0025a0001c0001t0003g0017a0001c0001t0004g0033others(4): Show | 7 | 56 | 0.1250 | 5 | c.421 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211878657 | G | GTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01175.hp2 HG01192.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0002g0032others(22): Show | 25 | 56 | 0.4464 | 5 | c.421 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211903851 | C | CAAGAA | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0026a0001c0001t0009g0046 | 2 | 56 | 0.0357 | 5 | c.421 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211923712 | G | GTTGTA | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp2 HG02922.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0045a0001c0001t0002g0025a0001c0001t0003g0017others(6): Show | 9 | 56 | 0.1607 | 5 | c.421 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211992568 | A | AGAGAG | intron_variant | MODIFIER | HG03486.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0008a0001c0001t0020g0028 | 2 | 56 | 0.0357 | 5 | c.235 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212147157 | A | ATTTTT | intron_variant | MODIFIER | HG03471.hp2 HG03486.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020a0001c0001t0026others(1): Show | a0001c0001t0004g0033a0001c0001t0020g0028a0001c0001t0026g0052others(1): Show | 4 | 56 | 0.0714 | 5 | c.83- others(22): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212187421 | T | TAAATA | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01175.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0002g0032a0001c0001t0004g0033a0001c0001t0008g0013others(5): Show | 8 | 56 | 0.1429 | 5 | c.83- others(22): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212190550 | A | AAAAAG | intron_variant | MODIFIER | HG01496.hp1 HG02615.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0016a0001c0001t0003g0017a0001c0001t0003g0050others(4): Show | 7 | 56 | 0.1250 | 5 | c.83- others(22): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212192040 | A | ATATGT | intron_variant | MODIFIER | HG01496.hp1 HG02615.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0016a0001c0001t0003g0017a0001c0001t0003g0050others(4): Show | 7 | 56 | 0.1250 | 5 | c.83- others(22): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212192067 | A | ATATGT | intron_variant | MODIFIER | HG01496.hp1 HG02615.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0016a0001c0001t0003g0017a0001c0001t0003g0050others(4): Show | 7 | 56 | 0.1250 | 5 | c.83- others(22): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212260076 | A | AAAAAG | intron_variant | MODIFIER | HG01069.hp2 HG01175.hp1 HG01192.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0024a0001c0001t0002g0025a0001c0001t0002g0032others(15): Show | 18 | 56 | 0.3214 | 5 | c.83- others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212260081 | A | AAAAAG | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02895.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(9): Show | a0001c0001t0001g0045a0001c0001t0003g0049a0001c0001t0009g0023others(11): Show | 14 | 56 | 0.2500 | 5 | c.83- others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212399710 | C | CAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0021a0001c0001t0002g0024a0001c0001t0009g0023others(4): Show | 7 | 56 | 0.1250 | 5 | c.82+ others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212459365 | C | CAAATA | intron_variant | MODIFIER | HG01069.hp1 HG01175.hp2 HG01192.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0002g0016others(39): Show | 42 | 56 | 0.7500 | 5 | c.82+ others(22): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212486886 | C | CTATAT | intron_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG01243.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0047others(20): Show | 23 | 56 | 0.4107 | 5 | c.82+ others(22): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212539623 | T | TAAAAG | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG01496.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0045a0001c0001t0002g0016a0001c0001t0002g0047others(33): Show | 36 | 56 | 0.6429 | 5 | c.-10 others(16): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 822 | chr2 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65926791 | G | GAAAAA | 5_prime_UTR_variant | MODIFIER | HG03710.hp1 NA18961.hp1 NA18985.hp2 others(3): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0009a0001c0022t0009 | a0001c0001t0009g0036a0001c0001t0009g0037a0001c0001t0009g0038others(3): Show | 6 | 306 | 0.0196 | 5 | c.-73 others(12): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/26 | 65927 | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 65938552 | C | CTGTTT | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp1 HG02258.hp1 others(13): Show |
a0004 | a0004c0005a0004c0014a0004c0017 | a0004c0005t0004a0004c0005t0025a0004c0014t0004others(1): Show | a0004c0005t0004g0007a0004c0005t0004g0008a0004c0005t0004g0009others(13): Show | 16 | 306 | 0.0523 | 5 | c.-58 others(24): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 65963839 | G | GAGTGC | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp1 HG02258.hp1 others(13): Show |
a0004 | a0004c0005a0004c0014a0004c0017 | a0004c0005t0004a0004c0005t0025a0004c0014t0004others(1): Show | a0004c0005t0004g0007a0004c0005t0004g0008a0004c0005t0004g0009others(13): Show | 16 | 306 | 0.0523 | 5 | c.-57 others(24): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 65982680 | A | AGACTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(185): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0020a0001c0021others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(185): Show | 188 | 306 | 0.6144 | 5 | c.-57 others(22): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66010627 | T | TATATG | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp1 HG02258.hp1 others(13): Show |
a0004 | a0004c0005a0004c0014a0004c0017 | a0004c0005t0004a0004c0005t0025a0004c0014t0004others(1): Show | a0004c0005t0004g0007a0004c0005t0004g0008a0004c0005t0004g0009others(13): Show | 16 | 306 | 0.0523 | 5 | c.308 others(22): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66018508 | A | ATATAT | intron_variant | MODIFIER | HG01891.hp2 HG01981.hp1 HG02738.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0003 | a0001c0001t0001g0129a0001c0002t0002g0261a0002c0003t0003g0198 | 3 | 306 | 0.0098 | 5 | c.534 others(22): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66018513 | T | TTATAA | intron_variant | MODIFIER | HG02976.hp2 HG03516.hp2 NA18948.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0006a0003c0004t0001 | a0001c0001t0001g0042a0001c0001t0006g0152a0003c0004t0001g0128 | 3 | 306 | 0.0098 | 5 | c.534 others(22): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66018548 | A | ATATAT | intron_variant | MODIFIER | HG00280.hp2 HG02738.hp1 HG03239.hp1 others(7): Show |
a0002a0010 | a0002c0003a0010c0009 | a0002c0003t0002a0002c0003t0003a0002c0003t0005others(1): Show | a0002c0003t0002g0203a0002c0003t0002g0204a0002c0003t0002g0207others(7): Show | 10 | 306 | 0.0327 | 5 | c.534 others(22): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66029569 | T | TCTGTC | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02257.hp1 others(12): Show |
a0002a0005 | a0002c0003a0005c0006 | a0002c0003t0005a0005c0006t0002a0005c0006t0007others(2): Show | a0002c0003t0005g0178a0002c0003t0005g0180a0002c0003t0005g0201others(12): Show | 15 | 306 | 0.0490 | 5 | c.120 others(24): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 14/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |