| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EP300_chr22_41087592_41185077 | 41167572 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0006 | a0001c0006t0046 | a0001c0006t0046g0047 | 1 | 300 | 0.0033 | -24 | c.387 others(41): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| EP300_chr22_41087592_41185077 | 41167580 | GTGTGTAT others(17): Show |
G | intron_variant | MODIFIER | HG02056.hp2 HG02083.hp2 NA18955.hp1 others(8): Show |
a0001a0007 | a0001c0002a0001c0004a0007c0015 | a0001c0002t0005a0001c0004t0002a0001c0004t0003others(4): Show | a0001c0002t0005g0018a0001c0004t0002g0033a0001c0004t0003g0014others(8): Show | 11 | 300 | 0.0367 | -24 | c.387 others(41): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| EP300_chr22_41087592_41185077 | 41167582 | GTGTATAT others(17): Show |
G | intron_variant | MODIFIER | HG00544.hp1 NA18968.hp1 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0005 | a0001c0004t0003g0022a0001c0004t0005g0031 | 2 | 300 | 0.0067 | -24 | c.387 others(41): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| EP300_chr22_41087592_41185077 | 41179880 | TCACACAC others(17): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0024 | a0002c0024t0074 | a0002c0024t0074g0160 | 1 | 300 | 0.0033 | -24 | c.*94 others(33): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 31/31 | 944 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
| EPAS1_chr2_46292407_46391697 | 46362951 | TTAGTGGT others(17): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG01496.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(4): Show | a0001c0001t0001g0073a0001c0001t0007g0219a0001c0001t0010g0142others(4): Show | 7 | 326 | 0.0215 | -24 | c.779 others(41): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EPB41L1_chr20_36149740_36237799 | 36188619 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0031 | 1 | 236 | 0.0042 | -24 | c.102 others(41): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| EPB41L2_chr6_130834347_131068245 | 131023740 | TATATATC others(17): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01081.hp1 HG01099.hp2 others(18): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0256a0001c0001t0001g0295a0001c0001t0001g0296others(18): Show | 21 | 356 | 0.0590 | -24 | c.-15 others(43): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar | ||||||
| EPB41L3_chr18_5387386_5548997 | 5389994 | TAAAAAAA others(17): Show |
T | downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 222 | 0.0045 | -24 | c.*34 others(35): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2391 | chr18 | TogoVar | ||||||
| EPB41L4A_chr5_112157619_112424277 | 112408695 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02895.hp1 NA20300.hp1 |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0054a0002c0003t0006g0055a0002c0003t0006g0056 | 3 | 228 | 0.0132 | -24 | c.99+ others(41): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
| EPB41L5_chr2_120008077_120184119 | 120055147 | GCCACCAT others(17): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061a0001c0001t0002g0062 | 2 | 278 | 0.0072 | -24 | c.285 others(43): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | chr2 | TogoVar | ||||||
| EPC1_chr10_32262751_32352158 | 32301038 | ATATCTAT others(17): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 2 | 318 | 0.0063 | -24 | c.313 others(41): Show |
EPC1 | ENSG00000120616.16 | transcript | ENST00000319778.11 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
| EPCAM_chr2_47364311_47392020 | 47365512 | ATATATAT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01257.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0117a0001c0001t0001g0120a0001c0001t0001g0128others(3): Show | 6 | 450 | 0.0133 | -24 | c.-39 others(35): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3798 | chr2 | TogoVar | ||||||
| EPCAM_chr2_47364311_47392020 | 47365514 | ATATATAT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02080.hp2 HG03834.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0011a0002c0002others(2): Show | a0001c0001t0001a0001c0011t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0023a0001c0001t0001g0079others(7): Show | 12 | 450 | 0.0267 | -24 | c.-39 others(35): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3796 | chr2 | TogoVar | ||||||
| EPCAM_chr2_47364311_47392020 | 47365516 | ATATATAT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03704.hp1 HG04228.hp1 NA18978.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0065a0001c0001t0001g0150others(1): Show | 4 | 450 | 0.0089 | -24 | c.-39 others(35): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3794 | chr2 | TogoVar | ||||||
| EPCAM_chr2_47364311_47392020 | 47365520 | ATATATAT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 450 | 0.0022 | -24 | c.-39 others(35): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3790 | chr2 | TogoVar | ||||||
| EPCAM_chr2_47364311_47392020 | 47383607 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG02602.hp2 HG03579.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0330a0002c0002t0001g0259a0002c0002t0001g0286others(1): Show | 4 | 450 | 0.0089 | -24 | c.859 others(41): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EPHA10_chr1_37710976_37770120 | 37732863 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | NA18522.hp1 NA18967.hp2 |
a0009a0012 | a0009c0016a0012c0018 | a0009c0016t0005a0012c0018t0014 | a0009c0016t0005g0320a0012c0018t0014g0024 | 2 | 382 | 0.0052 | -24 | c.149 others(43): Show |
EPHA10 | ENSG00000183317.17 | transcript | ENST00000373048.9 | protein_coding | 6/16 | chr1 | TogoVar | ||||||
| EPHA10_chr1_37710976_37770120 | 37765670 | TCACACAC others(17): Show |
T | upstream_gene_variant | MODIFIER | NA18952.hp2 | a0003 | a0003c0008 | a0003c0008t0006 | a0003c0008t0006g0360 | 1 | 382 | 0.0026 | -24 | c.-62 others(33): Show |
EPHA10 | ENSG00000183317.17 | transcript | ENST00000373048.9 | protein_coding | 551 | chr1 | TogoVar | ||||||
| EPHA3_chr3_89102621_89487134 | 89115540 | AGTCTTTT others(17): Show |
A | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 200 | 0.0050 | -24 | c.88+ others(39): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| EPHA3_chr3_89102621_89487134 | 89211725 | TTTCTTCT others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0008t0001others(4): Show | a0001c0001t0001g0042a0001c0001t0001g0051a0001c0001t0001g0056others(20): Show | 23 | 200 | 0.1150 | -24 | c.814 others(41): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| EPHA3_chr3_89102621_89487134 | 89398594 | AGTTCTAC others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02622.hp2 others(5): Show |
a0002a0004a0006 | a0002c0005a0004c0007a0006c0010 | a0002c0005t0005a0002c0005t0018a0004c0007t0005others(1): Show | a0002c0005t0005g0070a0002c0005t0005g0071a0002c0005t0018g0088others(5): Show | 8 | 200 | 0.0400 | -24 | c.143 others(41): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 6/16 | chr3 | TogoVar | ||||||
| EPHA5_chr4_65314567_65675489 | 65465530 | AAGAAAGG others(17): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01081.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0004g0068a0001c0001t0004g0070a0001c0001t0004g0102others(9): Show | 12 | 234 | 0.0513 | -24 | c.140 others(45): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 5/16 | chr4 | TogoVar | ||||||
| EPHA5_chr4_65314567_65675489 | 65465535 | AGGAAAGG others(17): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0023 | 1 | 234 | 0.0043 | -24 | c.140 others(45): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 5/16 | chr4 | TogoVar | ||||||
| EPHA5_chr4_65314567_65675489 | 65574709 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0018a0001c0006t0044 | a0001c0001t0018g0023a0001c0006t0044g0038 | 2 | 234 | 0.0086 | -24 | c.910 others(43): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | ||||||
| EPHA6_chr3_96809594_97766532 | 97363171 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01978.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0028a0001c0001t0002g0029a0001c0001t0002g0054others(3): Show | 6 | 82 | 0.0732 | -24 | c.160 others(45): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| EPHA7_chr6_93235020_93424559 | 93405803 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 280 | 0.0036 | -24 | c.832 others(41): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
| EPHB1_chr3_134790260_135265467 | 134882741 | TCTTTCTT others(17): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022a0001c0004t0001g0084 | 2 | 134 | 0.0149 | -24 | c.59- others(41): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| EPHB1_chr3_134790260_135265467 | 134963135 | CTCCTTCC others(17): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0011 | a0001c0011t0023 | a0001c0011t0023g0115 | 1 | 134 | 0.0075 | -24 | c.805 others(43): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| EPHB1_chr3_134790260_135265467 | 135207426 | TGTCAACA others(17): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00673.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(10): Show | a0001c0001t0001g0065a0001c0002t0001g0012a0001c0002t0001g0066others(15): Show | 18 | 134 | 0.1343 | -24 | c.234 others(43): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| EPHB3_chr3_184556785_184587408 | 184576239 | TGCTCCTA others(17): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0004a0001c0004t0009a0001c0004t0015 | a0001c0002t0004g0045a0001c0002t0004g0046a0001c0004t0009g0162others(3): Show | 6 | 358 | 0.0168 | -24 | c.101 others(41): Show |
EPHB3 | ENSG00000182580.3 | transcript | ENST00000330394.3 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| EPHX2_chr8_27486143_27550564 | 27490699 | GACACACA others(17): Show |
G | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0257 | 1 | 374 | 0.0027 | -24 | c.-50 others(33): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 443 | chr8 | TogoVar | ||||||
| EPHX2_chr8_27486143_27550564 | 27501324 | TTTCTTCT others(17): Show |
T | intron_variant | MODIFIER | HG00639.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0298 | 1 | 374 | 0.0027 | -24 | c.186 others(39): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| EPHX2_chr8_27486143_27550564 | 27516410 | GTCTTGCA others(17): Show |
G | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0237 | 1 | 374 | 0.0027 | -24 | c.910 others(37): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| EPN2_chr17_19232366_19341715 | 19245464 | GTGCAGTG others(17): Show |
G | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033a0001c0001t0002g0034 | 2 | 282 | 0.0071 | -24 | c.-29 others(43): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| EPN2_chr17_19232366_19341715 | 19245470 | TGGCGGGA others(17): Show |
T | intron_variant | MODIFIER | HG01993.hp2 HG02486.hp1 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0243a0001c0001t0004g0102a0001c0001t0004g0103others(9): Show | 12 | 282 | 0.0426 | -24 | c.-29 others(43): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| EPN2_chr17_19232366_19341715 | 19295362 | ACACACGC others(17): Show |
A | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 282 | 0.0036 | -24 | c.766 others(41): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| EPN2_chr17_19232366_19341715 | 19322873 | GCCAAGGA others(17): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 282 | 0.0036 | -24 | c.114 others(43): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| EPPIN_chr20_45535626_45552401 | 45548645 | CCTTTCTT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG01361.hp2 HG02622.hp2 HG02818.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0006 | a0002c0002t0004g0031a0002c0002t0004g0032a0002c0002t0006g0016 | 5 | 438 | 0.0114 | -24 | c.-13 others(35): Show |
EPPIN | ENSG00000101448.14 | transcript | ENST00000354280.9 | protein_coding | 1245 | chr20 | TogoVar | ||||||
| EPRS1_chr1_219963600_220051505 | 220020824 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG02976.hp2 others(4): Show |
a0003a0006a0008others(1): Show | a0003c0005a0006c0009a0008c0011others(1): Show | a0003c0005t0001a0006c0009t0001a0008c0011t0001others(1): Show | a0003c0005t0001g0023a0006c0009t0001g0014a0006c0009t0001g0017others(3): Show | 7 | 358 | 0.0196 | -24 | c.111 others(41): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 9/31 | chr1 | TogoVar | ||||||
| ERAP1_chr5_96769484_96812945 | 96808184 | ATCCGTGT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp2 NA20905.hp1 |
a0009 | a0009c0009 | a0009c0009t0006 | a0009c0009t0006g0013 | 2 | 416 | 0.0048 | -24 | c.-36 others(33): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 240 | chr5 | TogoVar | ||||||
| ERAP1_chr5_96769484_96812945 | 96808187 | CGTGTGTG others(17): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01358.hp2 HG01515.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0003others(4): Show | a0001c0001t0002g0010a0001c0001t0002g0102a0002c0002t0001g0243others(9): Show | 12 | 416 | 0.0289 | -24 | c.-36 others(33): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 243 | chr5 | TogoVar | ||||||
| ERBB4_chr2_211370717_212543802 | 211662038 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0047a0001c0002t0001g0048 | 2 | 56 | 0.0357 | -24 | c.187 others(43): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 15/27 | chr2 | TogoVar | ||||||
| ERBB4_chr2_211370717_212543802 | 211772814 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02895.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0002t0001 | a0001c0001t0004g0008a0001c0001t0007g0043a0001c0002t0001g0037 | 3 | 56 | 0.0536 | -24 | c.556 others(43): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | ||||||
| ERBB4_chr2_211370717_212543802 | 211839152 | AAGGAGGA others(17): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03471.hp2 HG03834.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0014a0001c0001t0026others(1): Show | a0001c0001t0002g0016a0001c0001t0014g0007a0001c0001t0026g0052others(1): Show | 4 | 56 | 0.0714 | -24 | c.422 others(43): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
| ERBB4_chr2_211370717_212543802 | 211905647 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0001 | 1 | 56 | 0.0179 | -24 | c.421 others(43): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | ||||||
| ERBB4_chr2_211370717_212543802 | 212003183 | AAGAAAGA others(17): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 56 | 0.0179 | -24 | c.235 others(43): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
| ERBB4_chr2_211370717_212543802 | 212015041 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0006 | 1 | 56 | 0.0179 | -24 | c.235 others(43): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
| ERBB4_chr2_211370717_212543802 | 212015089 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 56 | 0.0179 | -24 | c.235 others(43): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
| ERBB4_chr2_211370717_212543802 | 212446578 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02145.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0029 | a0001c0001t0028g0053a0001c0001t0029g0054 | 2 | 56 | 0.0357 | -24 | c.82+ others(41): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
| ERBIN_chr5_65921575_66087546 | 65965382 | GTTTTTTT others(17): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(151): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0021a0001c0022others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(151): Show | 154 | 306 | 0.5033 | -24 | c.-57 others(43): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |