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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPP9_chr19_4670227_4728842 | 4672267 | ATATATAT others(23): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02970.hp1 others(6): Show |
a0001a0002a0009 | a0001c0001a0002c0005a0009c0011 | a0001c0001t0002a0002c0005t0006a0009c0011t0002 | a0001c0001t0002g0028 a0001c0001t0002g0059 a0001c0001t0002g0120 others(6): Show |
9 | 307 | 0.0293 | -30 | c.*42 others(41): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 2959 | chr19 | TogoVar | |||||||
DPY19L2_chr12_63553913_63673493 | 63556316 | ATGTATAC others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00673.hp1 HG02818.hp2 HG02970.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0238 a0002c0003t0001g0100 a0002c0003t0001g0106 others(3): Show |
6 | 337 | 0.0178 | -30 | c.*41 others(41): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 2596 | chr12 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97134014 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0051 | 1 | 37 | 0.0270 | -30 | c.262 others(51): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 20/22 | chr1 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97195634 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG02004.hp2 HG02886.hp1 HG03710.hp2 others(2): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0004a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0004c0004t0001others(2): Show | a0001c0001t0001g0033 a0001c0001t0003g0037 a0004c0004t0001g0002 others(2): Show |
5 | 9 | 0.5556 | -30 | c.244 others(49): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 19/22 | chr1 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97206638 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02886.hp2 HG03098.hp2 others(2): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0007 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0046 a0001c0001t0002g0030 a0002c0002t0001g0011 others(2): Show |
5 | 22 | 0.2273 | -30 | c.244 others(51): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 19/22 | chr1 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97586465 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03225.hp2 |
a0005a0009 | a0005c0005a0009c0013 | a0005c0005t0001a0009c0013t0004 | a0005c0005t0001g0001 a0009c0013t0004g0020 |
2 | 4 | 0.5000 | -30 | c.112 others(49): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 10/22 | chr1 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97724295 | GGGGGGGG others(23): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0012 | 1 | 50 | 0.0200 | -30 | c.322 others(47): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
DPYSL4_chr10_132181948_132210759 | 132187339 | CGGCCCTG others(23): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp2 HG01175.hp2 others(13): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0015others(1): Show | a0001c0002t0003a0001c0003t0005a0001c0015t0005others(1): Show | a0001c0002t0003g0194 a0001c0003t0005g0009 a0001c0003t0005g0062 others(7): Show |
16 | 414 | 0.0386 | -30 | c.39+ others(43): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DPYSL4_chr10_132181948_132210759 | 132187354 | CTGCCGGG others(23): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03239.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003 | a0001c0001t0002g0085 a0001c0003t0003g0164 a0001c0003t0003g0165 |
3 | 416 | 0.0072 | -30 | c.39+ others(43): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DPYSL4_chr10_132181948_132210759 | 132205955 | GCAGCCAA others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp2 HG02027.hp1 HG02040.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0008a0001c0002t0001a0001c0002t0008others(2): Show | a0001c0001t0008g0203 a0001c0002t0001g0002 a0001c0002t0001g0007 others(18): Show |
38 | 290 | 0.1310 | -30 | c.*10 others(41): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 197 | chr10 | TogoVar | |||||||
DPYSL5_chr2_26843132_26955351 | 26932121 | AAGAGAAA others(23): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG02970.hp2 HG06807.hp2 |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0002a0001c0004t0003a0001c0007t0040 | a0001c0002t0002g0035 a0001c0004t0003g0064 a0001c0007t0040g0169 |
3 | 221 | 0.0136 | -30 | c.714 others(45): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPYSL5_chr2_26843132_26955351 | 26932123 | GAGAAAGA others(23): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0015 | 1 | 227 | 0.0044 | -30 | c.714 others(45): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPYS_chr8_104374431_104472055 | 104377915 | ATCGTTAG others(23): Show |
A | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0252 | 1 | 378 | 0.0026 | -30 | c.*19 others(41): Show |
DPYS | ENSG00000147647.13 | transcript | ENST00000351513.7 | protein_coding | 1515 | chr8 | TogoVar | |||||||
DRC7_chr16_57689806_57736805 | 57725124 | TCACCTTC others(23): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG02083.hp1 HG02258.hp2 others(10): Show |
a0003a0004a0012others(2): Show | a0003c0003a0004c0005a0012c0024others(2): Show | a0003c0003t0001a0003c0003t0006a0004c0005t0001others(3): Show | a0003c0003t0001g0085 a0003c0003t0001g0148 a0003c0003t0006g0321 others(9): Show |
13 | 386 | 0.0337 | -30 | c.175 others(47): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DRD3_chr3_114122580_114184052 | 114156715 | GTCTTTCT others(23): Show |
G | intron_variant | MODIFIER | HG01256.hp2 HG01928.hp1 HG01934.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0014a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0014t0003others(4): Show | a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0239 others(21): Show |
24 | 281 | 0.0854 | -30 | c.383 others(47): Show |
DRD3 | ENSG00000151577.14 | transcript | ENST00000383673.5 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
DSC3_chr18_30984365_31047742 | 31032567 | TGTGTGTG others(23): Show |
T | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0154 | 1 | 390 | 0.0026 | -30 | c.70- others(43): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 1/15 | chr18 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117486234 | CGGATGGG others(23): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01074.hp2 others(22): Show |
a0001a0002a0005others(1): Show | a0001c0011a0001c0016a0001c0022others(14): Show | a0001c0011t0002a0001c0016t0001a0001c0022t0001others(17): Show | a0001c0011t0002g0026 a0001c0016t0001g0044 a0001c0016t0001g0085 others(22): Show |
25 | 194 | 0.1289 | -30 | c.236 others(49): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 11/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117486279 | CGGATGTG others(23): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0066 | 1 | 194 | 0.0052 | -30 | c.236 others(49): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 11/32 | chr11 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18708241 | TATAATAT others(23): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00639.hp2 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0220 others(74): Show |
77 | 395 | 0.1949 | -30 | c.478 others(49): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | chr20 | TogoVar | |||||||
DTHD1_chr4_36276616_36352511 | 36332187 | AAAAATAA others(23): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(56): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0008a0002c0003others(15): Show | a0001c0002t0014a0001c0008t0021a0002c0003t0008others(26): Show | a0001c0002t0014g0123 a0001c0002t0014g0246 a0001c0008t0021g0248 others(50): Show |
59 | 99 | 0.5960 | -30 | c.234 others(49): Show |
DTHD1 | ENSG00000197057.10 | transcript | ENST00000639862.2 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25609657 | TACACACA others(23): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 18 | 0.0556 | -30 | c.363 others(47): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 4/20 | chr2 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118846920 | GCACACAC others(23): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00741.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0016others(6): Show | a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0013 others(20): Show |
24 | 72 | 0.3333 | -30 | c.726 others(47): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 5/5 | chr5 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76486846 | GGCTGCTG others(23): Show |
G | intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0199 | 1 | 208 | 0.0048 | -30 | c.908 others(47): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX3L_chr3_122559338_122580203 | 122562156 | CTCTTTTC others(23): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 177 | 0.0056 | -30 | c.-22 others(41): Show |
DTX3L | ENSG00000163840.10 | transcript | ENST00000296161.9 | protein_coding | 2181 | chr3 | TogoVar | |||||||
DUS4L_chr7_107558971_107583523 | 107578827 | CCAAGACG others(23): Show |
C | downstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 410 | 0.0024 | -30 | c.*12 others(41): Show |
DUS4L | ENSG00000105865.11 | transcript | ENST00000265720.8 | protein_coding | 305 | chr7 | TogoVar | |||||||
DUSP10_chr1_221696424_221747089 | 221743320 | CGCTTCTG others(23): Show |
C | upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 394 | 0.0025 | -30 | c.-14 others(41): Show |
DUSP10 | ENSG00000143507.18 | transcript | ENST00000366899.4 | protein_coding | 1232 | chr1 | TogoVar | |||||||
DUSP7_chr3_52043919_52061571 | 52045855 | CTGTGTGT others(23): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01928.hp2 HG01934.hp1 others(14): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0065 others(3): Show |
17 | 26 | 0.6538 | -30 | c.*49 others(41): Show |
DUSP7 | ENSG00000164086.10 | transcript | ENST00000495880.2 | protein_coding | 3063 | chr3 | TogoVar | |||||||
DUXB_chr16_75688893_75706461 | 75700878 | TTAAATAT others(23): Show |
T | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 420 | 0.0024 | -30 | c.25+ others(43): Show |
DUXB | ENSG00000282757.4 | transcript | ENST00000633875.4 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
DYNAP_chr18_54586245_54604493 | 54600081 | GAGATATA others(23): Show |
G | downstream_gene_variant | MODIFIER | HG03704.hp2 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 119 | 0.0168 | -30 | c.*19 others(41): Show |
DYNAP | ENSG00000178690.4 | transcript | ENST00000648945.2 | protein_coding | 589 | chr18 | TogoVar | |||||||
DYNC2H1_chr11_103104426_103484863 | 103235805 | GTCTTGAG others(23): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0017 | a0017c0024 | a0017c0024t0001 | a0017c0024t0001g0219 a0017c0024t0001g0220 |
2 | 260 | 0.0077 | -30 | c.970 others(45): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 62/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNLT2B_chr3_196286219_196323240 | 196308931 | CCATATCA others(23): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 327 | 0.0031 | -30 | c.248 others(47): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
DYRK1A_chr21_37361773_37531358 | 37451562 | TACCGTCT others(23): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG02257.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0055a0001c0001t0129others(3): Show | a0001c0001t0025g0044 a0001c0001t0055g0267 a0001c0001t0129g0236 others(3): Show |
6 | 338 | 0.0178 | -30 | c.11- others(47): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37495152 | TTGTGTGT others(23): Show |
T | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0343 | 1 | 28 | 0.0357 | -30 | c.107 others(47): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158866833 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG01928.hp2 HG02129.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0011a0001c0001t0086a0001c0002t0005others(3): Show | a0001c0001t0011g0096 a0001c0001t0086g0154 a0001c0002t0005g0115 others(3): Show |
6 | 18 | 0.3333 | -30 | c.555 others(49): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
ECE1_chr1_21212250_21295463 | 21232686 | TTTTGAGA others(23): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0098 | 1 | 302 | 0.0033 | -30 | c.167 others(47): Show |
ECE1 | ENSG00000117298.16 | transcript | ENST00000374893.11 | protein_coding | 14/18 | chr1 | TogoVar | |||||||
ECHDC1_chr6_127283712_127348609 | 127309480 | AACACACA others(23): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02965.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 a0001c0001t0002g0274 a0001c0001t0002g0281 |
3 | 6 | 0.5000 | -30 | c.497 others(47): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69612261 | GTTTTATT others(23): Show |
G | upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 13 | 0.0769 | -30 | c.-40 others(41): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 3851 | chrX | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84160744 | TCTTTCCT others(23): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 37 | 0.0270 | -30 | c.355 others(49): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36271854 | CTATTCTA others(23): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(37): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0149 a0001c0001t0001g0256 a0001c0001t0001g0275 others(37): Show |
40 | 344 | 0.1163 | -30 | c.931 others(47): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89875221 | GAACTGCC others(23): Show |
G | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 282 | 0.0035 | -30 | c.410 others(49): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB5_chr17_29936634_30113452 | 30036257 | TACATATA others(23): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(191): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0012a0002c0002others(12): Show | a0001c0001t0001a0001c0012t0001a0002c0002t0002others(13): Show | a0001c0001t0001g0010 a0001c0001t0001g0107 a0001c0001t0001g0108 others(190): Show |
194 | 209 | 0.9282 | -30 | c.120 others(49): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43614863 | TTATGGAG others(23): Show |
T | intron_variant | MODIFIER | HG02630.hp1 NA20129.hp1 |
a0013 | a0013c0018 | a0013c0018t0001 | a0013c0018t0001g0090 a0013c0018t0001g0092 |
2 | 288 | 0.0069 | -30 | c.256 others(47): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 21/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43629326 | ACTAGAGG others(23): Show |
A | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 288 | 0.0035 | -30 | c.223 others(49): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 19/31 | chr22 | TogoVar | |||||||
EFCAB7_chr1_63518525_63577693 | 63562445 | TTATTTAT others(23): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0186 | 1 | 112 | 0.0089 | -30 | c.149 others(47): Show |
EFCAB7 | ENSG00000203965.13 | transcript | ENST00000371088.5 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB7_chr1_63518525_63577693 | 63562449 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 285 | 0.0035 | -30 | c.149 others(47): Show |
EFCAB7 | ENSG00000203965.13 | transcript | ENST00000371088.5 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44209019 | CTGTGTGT others(23): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG01070.hp1 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0194 a0001c0001t0002g0079 a0001c0001t0002g0092 others(42): Show |
45 | 51 | 0.8824 | -30 | c.175 others(51): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107482802 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0051 a0001c0001t0001g0154 a0001c0001t0002g0139 others(8): Show |
11 | 190 | 0.0579 | -30 | c.126 others(49): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107482814 | GTCTCTCT others(23): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0111 | 1 | 181 | 0.0055 | -30 | c.126 others(49): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107482846 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0009 | 1 | 190 | 0.0053 | -30 | c.126 others(49): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107660261 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0029 | a0001c0001t0021g0064 a0001c0001t0029g0001 |
2 | 20 | 0.1000 | -30 | c.125 others(49): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar |