| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EFCAB7_chr1_63518525_63577693 | 63562484 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0034 | 1 | 374 | 0.0027 | -11 | c.149 others(28): Show |
EFCAB7 | ENSG00000203965.13 | transcript | ENST00000371088.5 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| EFCAB8_chr20_32853923_32966845 | 32860493 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03669.hp1 NA19030.hp1 |
a0002a0026 | a0002c0022a0026c0027 | a0002c0022t0002a0026c0027t0003 | a0002c0022t0002g0008a0026c0027t0003g0092 | 2 | 284 | 0.0070 | -11 | c.-11 others(28): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| EFCAB8_chr20_32853923_32966845 | 32943344 | TAGTCATA others(4): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01346.hp1 HG01433.hp1 others(5): Show |
a0012a0024a0030others(1): Show | a0012c0012a0024c0024a0030c0063others(1): Show | a0012c0012t0004a0024c0024t0005a0030c0063t0004others(1): Show | a0012c0012t0004g0094a0012c0012t0004g0108a0012c0012t0004g0109others(5): Show | 8 | 284 | 0.0282 | -11 | c.279 others(28): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| EFEMP1_chr2_55860967_55928782 | 55904974 | TTTTTCTT others(4): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 350 | 0.0029 | -11 | c.517 others(30): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 5/11 | chr2 | TogoVar | ||||||
| EFHB_chr3_19874472_19939217 | 19908597 | AGAGAAAG others(4): Show |
A | intron_variant | MODIFIER | HG06807.hp2 NA19043.hp2 |
a0009 | a0009c0012 | a0009c0012t0002 | a0009c0012t0002g0292a0009c0012t0002g0294 | 2 | 344 | 0.0058 | -11 | c.128 others(30): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
| EFHB_chr3_19874472_19939217 | 19918979 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0133 | 1 | 344 | 0.0029 | -11 | c.997 others(26): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 3/12 | chr3 | TogoVar | ||||||
| EFHC2_chrX_44142872_44348672 | 44251597 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG02257.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0211a0001c0001t0005g0173a0001c0001t0006g0036others(5): Show | 8 | 221 | 0.0362 | -11 | c.607 others(28): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | TogoVar | ||||||
| EFHC2_chrX_44142872_44348672 | 44282636 | GTGGGGGG others(4): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 221 | 0.0045 | -11 | c.232 others(28): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
| EFHD1_chr2_232628604_232687776 | 232646436 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03239.hp1 HG03669.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0005a0001c0009t0005 | a0001c0001t0005g0300a0001c0009t0005g0299 | 2 | 382 | 0.0052 | -11 | c.302 others(30): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EFHD1_chr2_232628604_232687776 | 232655802 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(138): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0024a0001c0001t0001g0172a0001c0001t0001g0194others(130): Show | 141 | 382 | 0.3691 | -11 | c.303 others(28): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EFL1_chr15_82125233_82267734 | 82179834 | GGACATCA others(4): Show |
G | intron_variant | MODIFIER | NA19078.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0177 | 1 | 368 | 0.0027 | -11 | c.175 others(32): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
| EFL1_chr15_82125233_82267734 | 82180362 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0037a0007c0010t0001g0038a0007c0010t0001g0039others(1): Show | 4 | 368 | 0.0109 | -11 | c.175 others(32): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
| EFNA2_chr19_1280873_1306431 | 1300241 | ATTTTTTT others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02818.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0051 | a0001c0001t0023g0082a0001c0001t0023g0122a0001c0001t0051g0001 | 3 | 294 | 0.0102 | -11 | c.*32 others(20): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 4/4 | 321 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| EFNA5_chr5_107371894_107675937 | 107537050 | AGCCGACA others(4): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01496.hp1 HG02055.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(10): Show | a0001c0001t0003g0068a0001c0001t0004g0004a0001c0001t0011g0038others(12): Show | 15 | 190 | 0.0790 | -11 | c.126 others(32): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EFNA5_chr5_107371894_107675937 | 107591906 | AATATAAA others(4): Show |
A | intron_variant | MODIFIER | NA19043.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0048 | a0001c0001t0042g0007a0001c0001t0048g0011 | 2 | 190 | 0.0105 | -11 | c.125 others(30): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EFNA5_chr5_107371894_107675937 | 107623027 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02155.hp1 HG04184.hp1 NA18982.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0023others(1): Show | a0001c0001t0003g0032a0001c0001t0007g0146a0001c0001t0023g0057others(1): Show | 4 | 190 | 0.0211 | -11 | c.125 others(30): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EFNA5_chr5_107371894_107675937 | 107660304 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0072 | 1 | 190 | 0.0053 | -11 | c.125 others(30): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EFNB1_chrX_68824021_68847160 | 68833450 | GCTCTCTG others(4): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG03688.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026a0001c0001t0002g0026 | 3 | 335 | 0.0090 | -11 | c.128 others(28): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| EFNB2_chr13_106484745_106540662 | 106532068 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0055 | a0001c0001t0001g0228a0001c0001t0002g0229a0001c0001t0002g0230others(2): Show | 5 | 356 | 0.0140 | -11 | c.122 others(28): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
| EFR3A_chr8_131899093_132018642 | 131924019 | ATCAGTAA others(4): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp1 others(17): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0016a0002c0002t0002a0002c0002t0015others(1): Show | a0001c0003t0016g0291a0001c0003t0016g0343a0002c0002t0002g0018others(16): Show | 20 | 412 | 0.0485 | -11 | c.11- others(28): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 1/22 | chr8 | TogoVar | ||||||
| EFR3A_chr8_131899093_132018642 | 132008846 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG01943.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0135others(6): Show | 9 | 412 | 0.0218 | -11 | c.236 others(30): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| EFR3B_chr2_25037076_25164135 | 25080283 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0248 | 1 | 306 | 0.0033 | -11 | c.8-1 others(26): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EFR3B_chr2_25037076_25164135 | 25098831 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(42): Show |
a0001a0004 | a0001c0001a0001c0015a0004c0007 | a0001c0001t0003a0001c0001t0008a0001c0001t0012others(7): Show | a0001c0001t0003g0069a0001c0001t0003g0072a0001c0001t0003g0073others(42): Show | 45 | 306 | 0.1471 | -11 | c.213 others(28): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EFR3B_chr2_25037076_25164135 | 25118726 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 306 | 0.0033 | -11 | c.364 others(28): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EFR3B_chr2_25037076_25164135 | 25128960 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02970.hp2 NA18982.hp2 NA18986.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0012a0001c0003t0027 | a0001c0001t0003g0074a0001c0001t0003g0296a0001c0001t0012g0071others(1): Show | 4 | 306 | 0.0131 | -11 | c.635 others(26): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EFS_chr14_23351406_23370172 | 23356282 | TCAGTTCA others(4): Show |
T | downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 404 | 0.0025 | -11 | c.*93 others(20): Show |
EFS | ENSG00000100842.13 | transcript | ENST00000216733.8 | protein_coding | 123 | chr14 | TogoVar | ||||||
| EGFLAM_chr5_38253559_38470480 | 38385280 | CCCCCCCC others(4): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 190 | 0.0053 | -11 | c.712 others(30): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| EGFLAM_chr5_38253559_38470480 | 38466521 | ACGTGACA others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02572.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0005a0001c0001t0016a0002c0002t0007others(10): Show | a0001c0001t0005g0154a0001c0001t0016g0147a0002c0002t0007g0095others(14): Show | 17 | 190 | 0.0895 | -11 | c.*25 others(22): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 1042 | chr5 | TogoVar | ||||||
| EGFR_chr7_55014017_55216628 | 55027988 | AAAAATAT others(4): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0011 | a0001c0011t0014 | a0001c0011t0014g0171 | 1 | 250 | 0.0040 | -11 | c.88+ others(26): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EGFR_chr7_55014017_55216628 | 55027992 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01993.hp1 HG02559.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0022a0001c0004t0001others(2): Show | a0001c0001t0001g0247a0001c0001t0022g0248a0001c0004t0001g0006others(2): Show | 5 | 250 | 0.0200 | -11 | c.88+ others(26): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | chr7 | TogoVar | ||||||
| EGF_chr4_109907883_110018766 | 109992170 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 |
a0014 | a0014c0017 | a0014c0017t0007 | a0014c0017t0007g0118a0014c0017t0007g0121 | 2 | 388 | 0.0052 | -11 | c.273 others(30): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| EGF_chr4_109907883_110018766 | 110005036 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02257.hp1 others(13): Show |
a0001a0005a0014others(1): Show | a0001c0001a0005c0005a0014c0017others(1): Show | a0001c0001t0007a0001c0001t0011a0005c0005t0011others(2): Show | a0001c0001t0007g0005a0001c0001t0007g0123a0001c0001t0007g0124others(12): Show | 16 | 388 | 0.0412 | -11 | c.329 others(28): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| EGLN1_chr1_231358756_231427287 | 231403767 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 338 | 0.0030 | -11 | c.891 others(30): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
| EGLN1_chr1_231358756_231427287 | 231412011 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02735.hp1 NA19074.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0002 | a0001c0001t0001g0308a0001c0001t0001g0309a0004c0004t0002g0318 | 3 | 338 | 0.0089 | -11 | c.891 others(28): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
| EGLN1_chr1_231358756_231427287 | 231412968 | AAATATAT others(4): Show |
A | intron_variant | MODIFIER | NA18961.hp1 NA18999.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0055a0002c0002t0006g0056 | 2 | 338 | 0.0059 | -11 | c.891 others(28): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
| EGLN2_chr19_40794191_40813434 | 40811294 | GCACTAAC others(4): Show |
G | downstream_gene_variant | MODIFIER | HG02809.hp2 HG03225.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0023 | 3 | 420 | 0.0071 | -11 | c.*34 others(22): Show |
EGLN2 | ENSG00000269858.6 | transcript | ENST00000303961.9 | protein_coding | 2861 | chr19 | TogoVar | ||||||
| EHBP1L1_chr11_65571053_65597650 | 65582454 | CCCAGAGA others(4): Show |
C | frameshift_variant | HIGH | NA18978.hp2 | a0015 | a0015c0024 | a0015c0024t0001 | a0015c0024t0001g0121 | 1 | 412 | 0.0024 | -11 | c.178 others(20): Show |
p.Pro others(5): Show |
EHBP1L1 | ENSG00000173442.13 | transcript | ENST00000309295.9 | protein_coding | 9/19 | 2033/5170 | 1783/4572 | 595/1523 | chr11 | TogoVar | ||
| EHBP1_chr2_62700713_63051487 | 62863837 | GTTGTTTT others(4): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 198 | 0.0051 | -11 | c.758 others(26): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EHBP1_chr2_62700713_63051487 | 63020508 | AAAAAAAG others(4): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG02165.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0045a0001c0001t0001g0046others(10): Show | 13 | 198 | 0.0657 | -11 | c.310 others(32): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EHBP1_chr2_62700713_63051487 | 63043920 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0097 | 1 | 198 | 0.0051 | -11 | c.327 others(30): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EHBP1_chr2_62700713_63051487 | 63045233 | GAAGTGTG others(4): Show |
G | intron_variant | MODIFIER | HG00438.hp1 NA18612.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005a0002c0002t0001g0131 | 2 | 198 | 0.0101 | -11 | c.339 others(26): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EHD2_chr19_47708422_47748134 | 47724981 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG02895.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0007a0001c0003t0002g0317 | 2 | 398 | 0.0050 | -11 | c.503 others(26): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| EHD2_chr19_47708422_47748134 | 47739274 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03041.hp2 |
a0001a0002 | a0001c0002a0002c0007 | a0001c0002t0003a0002c0007t0007 | a0001c0002t0003g0307a0002c0007t0007g0290 | 2 | 398 | 0.0050 | -11 | c.108 others(30): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| EHD2_chr19_47708422_47748134 | 47743418 | GTGTGTGT others(4): Show |
G | downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 398 | 0.0025 | -11 | c.*19 others(22): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 285 | chr19 | TogoVar | ||||||
| EHD3_chr2_31229152_31274451 | 31245543 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03130.hp2 NA18950.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0031a0001c0001t0087 | a0001c0001t0004g0032a0001c0001t0031g0311a0001c0001t0087g0240 | 4 | 378 | 0.0106 | -11 | c.404 others(28): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EHD3_chr2_31229152_31274451 | 31245545 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01934.hp1 NA18747.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0095 | a0001c0001t0001g0045a0001c0001t0001g0117a0001c0001t0001g0118others(6): Show | 10 | 378 | 0.0265 | -11 | c.404 others(28): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EHD3_chr2_31229152_31274451 | 31245547 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01257.hp2 HG01433.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0062a0001c0001t0001g0085a0001c0001t0001g0086others(10): Show | 13 | 378 | 0.0344 | -11 | c.404 others(28): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EHD3_chr2_31229152_31274451 | 31245549 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 378 | 0.0027 | -11 | c.404 others(28): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EHF_chr11_34616093_34668288 | 34618582 | TATCTATC others(4): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG01884.hp1 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0012a0001c0001t0014others(9): Show | a0001c0001t0002g0380a0001c0001t0012g0020a0001c0001t0012g0376others(12): Show | 15 | 410 | 0.0366 | -11 | c.-26 others(22): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 2510 | chr11 | TogoVar | ||||||
| EHF_chr11_34616093_34668288 | 34648486 | TTTATCCA others(4): Show |
T | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 410 | 0.0024 | -11 | c.344 others(26): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |