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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPB41_chr1_28909569_29125041 | 29106564 | A | ATTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp1 HG01099.hp1 others(14): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0233 a0001c0001t0002g0261 a0001c0001t0004g0295 others(14): Show |
17 | 121 | 0.1405 | 7 | c.231 others(26): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPC1_chr10_32262751_32352158 | 32290483 | C | CTCAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01074.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0012a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0042 a0001c0001t0001g0067 a0001c0001t0001g0079 others(46): Show |
49 | 60 | 0.8167 | 7 | c.975 others(22): Show |
EPC1 | ENSG00000120616.16 | transcript | ENST00000319778.11 | protein_coding | 6/13 | chr10 | TogoVar | |||||||
EPC2_chr2_148639751_148792569 | 148776856 | C | CTTTTTTT | intron_variant | MODIFIER | HG02155.hp1 HG02896.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0030 others(4): Show |
7 | 26 | 0.2692 | 7 | c.172 others(26): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPHA3_chr3_89102621_89487134 | 89113485 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01081.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0004a0002c0003t0003 | a0001c0001t0001g0014 a0001c0001t0001g0079 a0001c0001t0001g0080 others(10): Show |
13 | 28 | 0.4643 | 7 | c.88+ others(22): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA3_chr3_89102621_89487134 | 89390785 | A | ACTTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02630.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0017a0001c0001t0020a0002c0002t0004others(1): Show | a0001c0001t0017g0152 a0001c0001t0020g0153 a0002c0002t0004g0154 others(2): Show |
5 | 111 | 0.0450 | 7 | c.130 others(26): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 5/16 | chr3 | TogoVar | |||||||
EPHA3_chr3_89102621_89487134 | 89390785 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(45): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(6): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0002others(10): Show | a0001c0001t0001g0058 a0001c0001t0001g0143 a0001c0001t0001g0144 others(45): Show |
48 | 154 | 0.3117 | 7 | c.130 others(26): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65387957 | T | TCCCTCCC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(201): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(71): Show | a0001c0001t0003g0031 a0001c0001t0003g0041 a0001c0001t0003g0043 others(201): Show |
204 | 230 | 0.8870 | 7 | c.179 others(28): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 8/16 | chr4 | TogoVar | |||||||
EPHA7_chr6_93235020_93424559 | 93291767 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(96): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0009 a0001c0001t0001g0047 a0001c0001t0001g0048 others(95): Show |
99 | 163 | 0.6074 | 7 | c.132 others(28): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 5/16 | chr6 | TogoVar | |||||||
EPHA8_chr1_22558489_22608595 | 22579914 | T | TCCCTCTA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0027 a0001c0002t0005g0069 a0001c0013t0017g0299 others(4): Show |
8 | 340 | 0.0235 | 7 | c.823 others(24): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 134811242 | G | GTTTTTTT | intron_variant | MODIFIER | HG01169.hp1 HG01433.hp1 HG01978.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0002t0011others(1): Show | a0001c0001t0001g0062 a0001c0001t0005g0101 a0001c0002t0011g0098 others(1): Show |
4 | 65 | 0.0615 | 7 | c.58+ others(24): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 134826251 | C | CAAAAAAA | intron_variant | MODIFIER | HG00733.hp2 HG02258.hp1 HG02486.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0015others(7): Show | a0001c0001t0002g0002 a0001c0001t0002g0091 a0001c0001t0007g0028 others(8): Show |
11 | 18 | 0.6111 | 7 | c.58+ others(24): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 134882765 | C | CTTTCTTT | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG00735.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(6): Show | a0001c0001t0001g0130 a0001c0001t0005g0102 a0001c0002t0001g0012 others(7): Show |
10 | 24 | 0.4167 | 7 | c.59- others(24): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
EPHB1_chr3_134790260_135265467 | 134904464 | T | TGTCTGTG | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG01106.hp2 others(31): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(25): Show | a0001c0001t0001g0036 a0001c0001t0001g0130 a0001c0001t0005g0102 others(31): Show |
34 | 132 | 0.2576 | 7 | c.59- others(24): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 134955071 | C | CTTTTTTT | intron_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG01981.hp2 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0005a0001c0002t0016others(4): Show | a0001c0002t0001g0021 a0001c0002t0005g0103 a0001c0002t0016g0119 others(5): Show |
8 | 85 | 0.0941 | 7 | c.805 others(24): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 135200404 | G | GCAGCAAC | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 NA20752.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0015 a0001c0004t0002g0042 a0001c0004t0002g0056 |
3 | 132 | 0.0227 | 7 | c.213 others(26): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 11/15 | chr3 | TogoVar | |||||||
EPHB2_chr1_22705839_22926500 | 22741696 | A | AAAAAAAC | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01109.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0001g0200 others(21): Show |
24 | 230 | 0.1043 | 7 | c.61+ others(24): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
EPHX1_chr1_225805124_225850563 | 225826447 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(99): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(21): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0022 others(90): Show |
102 | 169 | 0.6036 | 7 | c.-5- others(22): Show |
EPHX1 | ENSG00000143819.13 | transcript | ENST00000272167.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27501387 | C | CTTCTTCT | intron_variant | MODIFIER | HG02886.hp1 NA18951.hp1 NA18968.hp1 |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0001a0001c0002t0002a0001c0017t0001 | a0001c0001t0001g0192 a0001c0002t0002g0216 a0001c0017t0001g0193 |
3 | 348 | 0.0086 | 7 | c.186 others(22): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EPM2A_chr6_145620305_145740520 | 145680384 | T | TTTATTTA | intron_variant | MODIFIER | HG01069.hp2 HG01433.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 others(4): Show |
7 | 131 | 0.0534 | 7 | c.476 others(24): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
EPOR_chr19_11372207_11389314 | 11384703 | C | CTCTCTCT | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0010 |
4 | 354 | 0.0113 | 7 | c.-49 others(16): Show |
EPOR | ENSG00000187266.14 | transcript | ENST00000222139.11 | protein_coding | 390 | chr19 | TogoVar | |||||||
EPRS1_chr1_219963600_220051505 | 220018829 | T | TAAAAAAA | intron_variant | MODIFIER | NA18940.hp1 NA18941.hp2 NA18973.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0113 a0001c0002t0001g0111 a0001c0002t0001g0112 others(5): Show |
8 | 57 | 0.1404 | 7 | c.143 others(24): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 11/31 | chr1 | TogoVar | |||||||
EPRS1_chr1_219963600_220051505 | 220038390 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(36): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0002g0013 others(36): Show |
39 | 224 | 0.1741 | 7 | c.131 others(24): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 2/31 | chr1 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51508241 | A | AAGAAAAG | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0002 | a0002c0001 | a0002c0001t0009 | a0002c0001t0009g0117 a0002c0001t0009g0118 |
2 | 144 | 0.0139 | 7 | c.33+ others(24): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42938914 | C | CAAAAAAA | intron_variant | MODIFIER | HG01975.hp1 HG02027.hp1 HG02129.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(9): Show | a0001c0001t0002g0281 a0001c0001t0006g0294 a0001c0001t0012g0216 others(15): Show |
19 | 27 | 0.7037 | 7 | c.564 others(26): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
EPYC_chr12_90958682_91009972 | 91002189 | C | CAAAAAAA | intron_variant | MODIFIER | HG02572.hp1 HG02683.hp1 HG03139.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(4): Show |
8 | 88 | 0.0909 | 7 | c.165 others(22): Show |
EPYC | ENSG00000083782.8 | transcript | ENST00000261172.8 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
ERAP1_chr5_96769484_96812945 | 96798324 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG02451.hp2 others(4): Show |
a0003a0016 | a0003c0003a0016c0019 | a0003c0003t0003a0016c0019t0001a0016c0019t0002 | a0003c0003t0003g0031 a0003c0003t0003g0180 a0003c0003t0003g0187 others(3): Show |
7 | 219 | 0.0320 | 7 | c.664 others(24): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
ERAP1_chr5_96769484_96812945 | 96798871 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(75): Show |
a0003a0006a0008others(5): Show | a0003c0003a0006c0006a0008c0008others(8): Show | a0003c0003t0001a0003c0003t0003a0006c0006t0004others(13): Show | a0003c0003t0001g0018 a0003c0003t0001g0183 a0003c0003t0001g0184 others(57): Show |
78 | 225 | 0.3467 | 7 | c.664 others(24): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
ERAP1_chr5_96769484_96812945 | 96807720 | T | TCGCCTTC | intron_variant | MODIFIER | HG00738.hp1 HG01975.hp1 HG01981.hp2 others(2): Show |
a0011 | a0011c0011 | a0011c0011t0001a0011c0011t0015 | a0011c0011t0001g0045 a0011c0011t0001g0314 a0011c0011t0001g0316 others(1): Show |
5 | 414 | 0.0121 | 7 | c.-18 others(22): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
ERAP2_chr5_96871500_96924703 | 96892996 | A | AGCTGTTC | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp2 HG01433.hp1 others(1): Show |
a0001a0011 | a0001c0001a0011c0019 | a0001c0001t0001a0011c0019t0001 | a0001c0001t0001g0042 a0001c0001t0001g0199 a0011c0019t0001g0197 |
4 | 396 | 0.0101 | 7 | c.112 others(24): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96911866 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01496.hp1 others(12): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0037 a0001c0004t0001g0130 a0001c0004t0001g0131 others(10): Show |
15 | 169 | 0.0888 | 7 | c.235 others(24): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBB2_chr17_39695064_39733658 | 39707353 | C | CTCGGCCA | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp1 HG02486.hp1 others(16): Show |
a0001a0004a0009 | a0001c0001a0001c0019a0004c0005others(1): Show | a0001c0001t0002a0001c0019t0002a0004c0005t0001others(1): Show | a0001c0001t0002g0027 a0001c0001t0002g0087 a0001c0001t0002g0088 others(13): Show |
19 | 318 | 0.0597 | 7 | c.225 others(22): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211570325 | C | CTTTTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02809.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(4): Show | a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0004g0011 others(5): Show |
8 | 16 | 0.5000 | 7 | c.230 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211754407 | C | CTTTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01175.hp2 HG02258.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0045 a0001c0001t0003g0050 a0001c0001t0004g0033 others(6): Show |
9 | 41 | 0.2195 | 7 | c.557 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211861110 | T | TATATATA | intron_variant | MODIFIER | HG02615.hp1 HG02717.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0003g0040 a0001c0001t0003g0050 a0001c0001t0004g0003 others(6): Show |
9 | 55 | 0.1636 | 7 | c.422 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211944185 | A | ATATATAG | intron_variant | MODIFIER | HG03453.hp1 HG03486.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0012 | a0001c0001t0004g0003 a0001c0001t0011g0042 a0001c0001t0012g0001 |
3 | 50 | 0.0600 | 7 | c.421 others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211977531 | T | TAAAAAAA | intron_variant | MODIFIER | HG02717.hp1 HG02717.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0025 a0001c0001t0003g0017 a0001c0001t0007g0018 others(1): Show |
4 | 11 | 0.3636 | 7 | c.235 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211987330 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG02145.hp1 HG02145.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0024 a0001c0001t0003g0040 a0001c0001t0003g0049 others(18): Show |
21 | 46 | 0.4565 | 7 | c.235 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211997909 | T | TACACACA | intron_variant | MODIFIER | HG03453.hp1 HG03486.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0020g0028 |
3 | 22 | 0.1364 | 7 | c.235 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212094376 | T | TTAACAAA | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01175.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0002g0047 others(23): Show |
26 | 56 | 0.4643 | 7 | c.234 others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212191545 | G | GTTATACA | intron_variant | MODIFIER | HG02615.hp2 HG02895.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0024 a0001c0001t0004g0003 a0001c0001t0004g0011 others(2): Show |
5 | 9 | 0.5556 | 7 | c.83- others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212191572 | G | GTTATACA | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01175.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0025 others(24): Show |
27 | 55 | 0.4909 | 7 | c.83- others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212191780 | G | GTTATACA | intron_variant | MODIFIER | HG03239.hp2 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0026a0002c0003t0001 | a0001c0001t0026g0052 a0002c0003t0001g0014 |
2 | 56 | 0.0357 | 7 | c.83- others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212191992 | A | ATATATGT | intron_variant | MODIFIER | HG02145.hp2 HG03195.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0027a0001c0001t0029 | a0001c0001t0010g0005 a0001c0001t0027g0055 a0001c0001t0029g0054 |
3 | 56 | 0.0536 | 7 | c.83- others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212192138 | C | CTATAATA | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp2 HG02615.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0016 a0001c0001t0003g0017 a0001c0001t0003g0050 others(7): Show |
10 | 56 | 0.1786 | 7 | c.83- others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212211629 | A | AAAAAAAC | intron_variant | MODIFIER | HG01175.hp2 HG02717.hp1 HG02922.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0002g0025 a0001c0001t0005g0015 a0001c0001t0007g0018 others(3): Show |
6 | 32 | 0.1875 | 7 | c.83- others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212323826 | G | GCATTAAT | intron_variant | MODIFIER | HG01069.hp2 HG01175.hp1 HG01192.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0006g0026 others(10): Show |
13 | 56 | 0.2321 | 7 | c.83- others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212391642 | A | AATATTAT | intron_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG01243.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0021 a0001c0001t0002g0024 a0001c0001t0002g0047 others(23): Show |
26 | 56 | 0.4643 | 7 | c.82+ others(26): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212520892 | G | GAATTTAA | intron_variant | MODIFIER | HG01496.hp1 HG02615.hp2 HG02717.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0024 a0001c0001t0003g0017 a0001c0001t0003g0040 others(12): Show |
15 | 56 | 0.2679 | 7 | c.82+ others(24): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212539304 | T | TCCCCCCC | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0003g0040 a0001c0001t0004g0003 a0001c0001t0006g0039 others(5): Show |
8 | 35 | 0.2286 | 7 | c.-77 others(16): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 503 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212541274 | G | GAAAAAGA | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG02895.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0003g0040 a0001c0001t0003g0049 a0001c0001t0006g0039 others(7): Show |
10 | 56 | 0.1786 | 7 | c.-27 others(18): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2473 | chr2 | TogoVar |