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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFCAB11_chr14_89789669_89959730 | 89886540 | AAAAAG | A | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01109.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0140a0001c0001t0002g0031a0001c0001t0002g0114others(16): Show | 19 | 284 | 0.0669 | -5 | c.410 others(24): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB12_chr3_129396321_129433636 | 129400120 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01175.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0086a0001c0007t0001g0212a0001c0007t0001g0231others(4): Show | 7 | 386 | 0.0181 | -5 | c.*14 others(16): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 1200 | chr3 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47327166 | GTTTTC | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(54): Show |
a0003a0004a0006others(6): Show | a0003c0004a0003c0008a0003c0016others(8): Show | a0003c0004t0002a0003c0008t0003a0003c0016t0002others(10): Show | a0003c0004t0002g0109a0003c0004t0002g0214a0003c0004t0002g0217others(53): Show | 57 | 356 | 0.1601 | -5 | c.-86 others(20): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB13_chr17_47318955_47446312 | 47361000 | GTTTAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(14): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0006t0001others(2): Show | a0001c0001t0001g0052a0001c0001t0005g0255a0001c0001t0005g0256others(14): Show | 17 | 356 | 0.0478 | -5 | c.662 others(20): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 244970638 | TCCGCC | T | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02630.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0193a0001c0001t0002g0191a0001c0001t0002g0192others(5): Show | 9 | 290 | 0.0310 | -5 | c.25+ others(18): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 244973226 | CTAATA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(138): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0018others(138): Show | 141 | 290 | 0.4862 | -5 | c.25+ others(20): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 244979292 | CTTTTT | C | intron_variant | MODIFIER | HG00597.hp1 HG01256.hp2 HG02148.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0210a0001c0001t0001g0240a0001c0001t0001g0264others(7): Show | 10 | 290 | 0.0345 | -5 | c.25+ others(20): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 245006965 | CAACAA | C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01071.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002a0001c0002t0004 | a0001c0001t0003g0005a0001c0001t0003g0009a0001c0001t0003g0017others(13): Show | 16 | 290 | 0.0552 | -5 | c.26- others(22): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 245034600 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0002 | a0001c0001t0008g0288a0001c0002t0002g0086a0001c0002t0002g0087others(30): Show | 33 | 290 | 0.1138 | -5 | c.110 others(24): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 245039300 | CAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG02027.hp1 HG02055.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0155others(13): Show | 16 | 290 | 0.0552 | -5 | c.111 others(24): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 245044483 | TTTTTA | T | intron_variant | MODIFIER | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0120a0001c0001t0001g0155a0001c0001t0001g0156others(8): Show | 11 | 290 | 0.0379 | -5 | c.111 others(24): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 245073650 | TAAGTA | T | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG02723.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0123a0001c0001t0001g0155a0001c0001t0001g0156others(6): Show | 9 | 290 | 0.0310 | -5 | c.184 others(22): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 245082686 | CTTTTA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(100): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0001g0123others(100): Show | 103 | 290 | 0.3552 | -5 | c.263 others(20): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30107808 | ACTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(155): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0024a0002c0002others(20): Show | a0001c0001t0001a0001c0024t0004a0002c0002t0002others(21): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0011others(154): Show | 158 | 248 | 0.6371 | -5 | c.432 others(20): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB6_chr22_43523778_43817305 | 43524276 | AAATCC | A | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG02622.hp2 others(13): Show |
a0002a0013a0023others(1): Show | a0002c0002a0002c0038a0013c0018others(2): Show | a0002c0002t0001a0002c0038t0001a0013c0018t0001others(2): Show | a0002c0002t0001g0120a0002c0002t0001g0242a0002c0002t0001g0243others(13): Show | 16 | 290 | 0.0552 | -5 | c.*45 others(16): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 4501 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43586340 | ATTTTT | A | intron_variant | MODIFIER | HG01175.hp1 HG01433.hp1 HG01943.hp2 others(3): Show |
a0001a0003a0023others(1): Show | a0001c0001a0001c0035a0003c0003others(2): Show | a0001c0001t0001a0001c0035t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0084a0001c0001t0001g0087a0001c0035t0001g0235others(3): Show | 6 | 290 | 0.0207 | -5 | c.303 others(24): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 24/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43589280 | CAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG02717.hp1 HG02717.hp2 others(7): Show |
a0001a0007a0022others(2): Show | a0001c0001a0001c0035a0007c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0001g0086others(7): Show | 10 | 290 | 0.0345 | -5 | c.303 others(22): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 24/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43606446 | AAATGT | A | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp1 HG02897.hp2 others(2): Show |
a0007a0022 | a0007c0007a0022c0039 | a0007c0007t0001a0007c0007t0002a0022c0039t0001 | a0007c0007t0001g0154a0007c0007t0001g0155a0007c0007t0002g0004others(2): Show | 5 | 290 | 0.0172 | -5 | c.268 others(24): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 22/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43625107 | CAAAAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp2 others(70): Show |
a0001a0008 | a0001c0001a0001c0013a0001c0035others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0013t0001others(5): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0027others(70): Show | 73 | 290 | 0.2517 | -5 | c.246 others(24): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43675606 | TATATA | T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp1 others(14): Show |
a0001a0007a0009others(2): Show | a0001c0001a0007c0014a0009c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0007c0014t0002others(4): Show | a0001c0001t0001g0083a0001c0001t0002g0006a0001c0001t0002g0007others(14): Show | 17 | 290 | 0.0586 | -5 | c.141 others(24): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 13/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43675789 | TTATAA | T | intron_variant | MODIFIER | HG01496.hp1 HG02717.hp1 HG02723.hp1 others(7): Show |
a0007a0030 | a0007c0007a0030c0032 | a0007c0007t0001a0007c0007t0002a0030c0032t0001 | a0007c0007t0001g0154a0007c0007t0001g0155a0007c0007t0001g0156others(7): Show | 10 | 290 | 0.0345 | -5 | c.141 others(24): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 13/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43711126 | TAACTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(37): Show |
a0001a0003a0018others(2): Show | a0001c0013a0003c0003a0018c0044others(2): Show | a0001c0013t0001a0003c0003t0001a0003c0003t0008others(3): Show | a0001c0013t0001g0187a0001c0013t0001g0188a0001c0013t0001g0208others(37): Show | 40 | 290 | 0.1379 | -5 | c.103 others(22): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 10/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43750643 | TTTTTG | T | intron_variant | MODIFIER | HG02083.hp2 NA18942.hp1 NA18943.hp1 others(4): Show |
a0008 | a0008c0008a0008c0029 | a0008c0008t0001a0008c0029t0001 | a0008c0008t0001g0026a0008c0008t0001g0033a0008c0008t0001g0035others(4): Show | 7 | 290 | 0.0241 | -5 | c.507 others(22): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 6/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43784488 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(55): Show |
a0001a0008a0023 | a0001c0001a0001c0013a0001c0035others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0013t0001others(3): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0027others(55): Show | 58 | 290 | 0.2000 | -5 | c.-7- others(20): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43784499 | AAAAAT | A | intron_variant | MODIFIER | HG01496.hp1 HG02723.hp1 HG02895.hp1 others(6): Show |
a0007 | a0007c0007 | a0007c0007t0001a0007c0007t0002 | a0007c0007t0001g0154a0007c0007t0001g0155a0007c0007t0001g0156others(6): Show | 9 | 290 | 0.0310 | -5 | c.-7- others(20): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | ||||||
EFCAB7_chr1_63518525_63577693 | 63551999 | TATTAA | T | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp1 HG02280.hp1 others(13): Show |
a0003a0005a0006others(1): Show | a0003c0005a0005c0007a0006c0008others(1): Show | a0003c0005t0001a0005c0007t0001a0006c0008t0001others(1): Show | a0003c0005t0001g0211a0005c0007t0001g0213a0005c0007t0001g0214others(13): Show | 16 | 374 | 0.0428 | -5 | c.105 others(22): Show |
EFCAB7 | ENSG00000203965.13 | transcript | ENST00000371088.5 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB7_chr1_63518525_63577693 | 63552973 | CTCTTA | C | intron_variant | MODIFIER | HG01167.hp2 HG02145.hp2 HG02559.hp2 others(14): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0002a0003c0004t0001g0048a0003c0004t0001g0049others(10): Show | 17 | 374 | 0.0455 | -5 | c.105 others(24): Show |
EFCAB7 | ENSG00000203965.13 | transcript | ENST00000371088.5 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB8_chr20_32853923_32966845 | 32876422 | GTTACA | G | intron_variant | MODIFIER | HG02818.hp2 HG02970.hp2 HG02976.hp1 others(1): Show |
a0002a0005a0040 | a0002c0042a0002c0046a0005c0013others(1): Show | a0002c0042t0001a0002c0046t0003a0005c0013t0001others(1): Show | a0002c0042t0001g0198a0002c0046t0003g0233a0005c0013t0001g0200others(1): Show | 4 | 284 | 0.0141 | -5 | c.327 others(20): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EFCAB8_chr20_32853923_32966845 | 32963803 | CTTTCT | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(52): Show |
a0002a0004a0005others(10): Show | a0002c0002a0002c0046a0004c0004others(12): Show | a0002c0002t0003a0002c0046t0003a0004c0004t0003others(15): Show | a0002c0002t0003g0223a0002c0002t0003g0262a0002c0002t0003g0263others(52): Show | 55 | 284 | 0.1937 | -5 | c.*21 others(16): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 1959 | chr20 | TogoVar | ||||||
EFCAB9_chr5_172189172_172208454 | 172202332 | CAAAAA | C | intron_variant | MODIFIER | HG03831.hp2 NA18978.hp1 NA18994.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0082a0001c0001t0001g0085others(1): Show | 6 | 408 | 0.0147 | -5 | c.463 others(20): Show |
EFCAB9 | ENSG00000214360.5 | transcript | ENST00000398186.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EFHB_chr3_19874472_19939217 | 19926149 | AGCTGT | A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(20): Show |
a0002a0006a0013 | a0002c0009a0002c0010a0006c0027others(1): Show | a0002c0009t0002a0002c0010t0002a0006c0027t0002others(1): Show | a0002c0009t0002g0016a0002c0009t0002g0315a0002c0009t0002g0316others(18): Show | 23 | 344 | 0.0669 | -5 | c.790 others(22): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 1/12 | chr3 | TogoVar | ||||||
EFHC1_chr6_52415342_52502198 | 52462931 | CATAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG02615.hp1 HG03209.hp1 others(1): Show |
a0008 | a0008c0008 | a0008c0008t0014 | a0008c0008t0014g0012a0008c0008t0014g0095 | 4 | 396 | 0.0101 | -5 | c.917 others(22): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EFHC1_chr6_52415342_52502198 | 52472128 | CTAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01099.hp1 others(21): Show |
a0002a0011 | a0002c0002a0011c0013 | a0002c0002t0024a0002c0002t0027a0002c0002t0033others(17): Show | a0002c0002t0024g0009a0002c0002t0024g0142a0002c0002t0027g0009others(21): Show | 24 | 396 | 0.0606 | -5 | c.127 others(24): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EFHC1_chr6_52415342_52502198 | 52498685 | AAAAAC | A | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG03516.hp1 others(1): Show |
a0001a0009 | a0001c0001a0009c0009 | a0001c0001t0092a0001c0001t0095a0009c0009t0091others(1): Show | a0001c0001t0092g0279a0001c0001t0095g0197a0009c0009t0091g0280others(1): Show | 4 | 396 | 0.0101 | -5 | c.*63 others(16): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 1488 | chr6 | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44282642 | GGGGGT | G | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001a0001c0006t0006 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | 221 | 0.0453 | -5 | c.232 others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44289673 | CTTTCT | C | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0001t0008g0199others(4): Show | 7 | 221 | 0.0317 | -5 | c.232 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44293535 | ATTTCT | A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001a0001c0006t0006 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | 221 | 0.0453 | -5 | c.231 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44297937 | GAGAAA | G | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0041 | 1 | 221 | 0.0045 | -5 | c.231 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44319789 | TAAGTA | T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 221 | 0.0045 | -5 | c.43- others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | TogoVar | ||||||
EFHD1_chr2_232628604_232687776 | 232660171 | ATTTAT | A | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02622.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0006a0001c0001t0021a0003c0005t0002others(1): Show | a0001c0001t0006g0035a0001c0001t0006g0097a0001c0001t0006g0098others(3): Show | 6 | 382 | 0.0157 | -5 | c.303 others(22): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFHD1_chr2_232628604_232687776 | 232675246 | GAAAGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(175): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0252a0001c0001t0003g0244a0001c0001t0004g0158others(168): Show | 178 | 382 | 0.4660 | -5 | c.585 others(22): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFHD1_chr2_232628604_232687776 | 232687333 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG00673.hp1 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0265a0001c0001t0001g0356a0001c0001t0002g0332others(24): Show | 28 | 382 | 0.0733 | -5 | c.*56 others(16): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 4558 | chr2 | TogoVar | ||||||
EFHD2_chr1_15404888_15435339 | 15418848 | GAGCCC | G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(127): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0015others(97): Show | 130 | 424 | 0.3066 | -5 | c.309 others(22): Show |
EFHD2 | ENSG00000142634.13 | transcript | ENST00000375980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFL1_chr15_82125233_82267734 | 82129324 | AGCTAT | A | downstream_gene_variant | MODIFIER | HG01255.hp2 HG01346.hp2 HG01891.hp1 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0008a0001c0013others(3): Show | a0001c0003t0001a0001c0008t0001a0001c0013t0001others(3): Show | a0001c0003t0001g0032a0001c0003t0001g0033a0001c0003t0001g0034others(14): Show | 17 | 368 | 0.0462 | -5 | c.*10 others(16): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 908 | chr15 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82191594 | TCATCC | T | intron_variant | MODIFIER | HG00323.hp1 HG02145.hp1 HG02273.hp2 others(14): Show |
a0004a0007a0012others(1): Show | a0004c0006a0007c0010a0012c0016others(1): Show | a0004c0006t0001a0007c0010t0001a0012c0016t0001others(1): Show | a0004c0006t0001g0053a0004c0006t0001g0054a0004c0006t0001g0056others(14): Show | 17 | 368 | 0.0462 | -5 | c.175 others(26): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82262805 | CCTCTG | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01255.hp2 HG02145.hp1 others(9): Show |
a0003a0004a0012others(1): Show | a0003c0004a0004c0006a0012c0016others(1): Show | a0003c0004t0001a0004c0006t0001a0012c0016t0001others(1): Show | a0003c0004t0001g0185a0004c0006t0001g0053a0004c0006t0001g0056others(9): Show | 12 | 368 | 0.0326 | -5 | c.-21 others(14): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 72 | chr15 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1298072 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00733.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(12): Show | a0001c0001t0001g0012a0001c0001t0008g0012a0001c0001t0008g0047others(16): Show | 20 | 294 | 0.0680 | -5 | c.455 others(20): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EFNA2_chr19_1280873_1306431 | 1301123 | AAAAAG | A | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01192.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0017a0001c0001t0034others(4): Show | a0001c0001t0011g0002a0001c0001t0011g0055a0001c0001t0011g0059others(11): Show | 14 | 294 | 0.0476 | -5 | c.*11 others(16): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 4/4 | 1182 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
EFNA2_chr19_1280873_1306431 | 1302391 | TCCAGG | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0106a0001c0001t0002g0001a0001c0001t0002g0006others(11): Show | 15 | 294 | 0.0510 | -5 | c.*24 others(16): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 961 | chr19 | TogoVar | ||||||
EFNA3_chr1_155073837_155092538 | 155090167 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01884.hp2 HG01891.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009a0001c0001t0003g0004a0001c0001t0003g0007others(5): Show | 45 | 334 | 0.1347 | -5 | c.*36 others(16): Show |
EFNA3 | ENSG00000143590.14 | transcript | ENST00000368408.4 | protein_coding | 2630 | chr1 | TogoVar |