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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EMSY_chr11_76440018_76558031 | 76527229 | A | AATGCC | intron_variant | MODIFIER | HG00323.hp1 HG02015.hp2 HG02040.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0021 | a0001c0002t0001g0065a0001c0002t0001g0066a0001c0002t0001g0067others(13): Show | 16 | 360 | 0.0444 | 5 | c.204 others(22): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EN1_chr2_118837171_118852648 | 118847726 | G | GGTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(40): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0051others(8): Show | 43 | 442 | 0.0973 | 5 | c.-56 others(14): Show |
EN1 | ENSG00000163064.7 | transcript | ENST00000295206.7 | protein_coding | 79 | chr2 | TogoVar | ||||||
EN2_chr7_155453129_155469831 | 155464017 | C | CACACA | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG01167.hp1 HG02056.hp1 others(7): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0008a0002c0001t0008 | a0001c0003t0008g0001a0002c0001t0008g0001 | 10 | 432 | 0.0232 | 5 | c.*13 others(16): Show |
EN2 | ENSG00000164778.4 | transcript | ENST00000297375.4 | protein_coding | 2/2 | 1333 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
ENAH_chr1_225481829_225658123 | 225494064 | C | CAAAAA | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(119): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(31): Show | a0001c0001t0001g0018a0001c0001t0001g0065a0001c0001t0001g0082others(119): Show | 122 | 308 | 0.3961 | 5 | c.*37 others(16): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 14/14 | 3710 | chr1 | TogoVar | |||||
ENAH_chr1_225481829_225658123 | 225503658 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG02071.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0028others(3): Show | a0001c0001t0001g0123a0001c0001t0001g0153a0001c0001t0001g0154others(8): Show | 11 | 308 | 0.0357 | 5 | c.153 others(24): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 11/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225561619 | T | TTAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00738.hp2 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(29): Show | a0001c0001t0002g0107a0001c0001t0004g0015a0001c0001t0004g0245others(58): Show | 61 | 308 | 0.1981 | 5 | c.171 others(22): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225562571 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02071.hp1 HG03486.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0016others(2): Show | a0001c0001t0002g0017a0001c0001t0002g0100a0001c0001t0002g0102others(10): Show | 13 | 308 | 0.0422 | 5 | c.171 others(22): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225575123 | C | CCGTGA | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG02922.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0028a0002c0002t0028 | a0001c0001t0028g0067a0001c0001t0028g0068a0002c0002t0028g0066 | 3 | 308 | 0.0097 | 5 | c.6-7 others(18): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225576658 | C | CATATG | intron_variant | MODIFIER | HG01361.hp1 HG03017.hp2 HG03834.hp1 others(10): Show |
a0001a0002 | a0001c0003a0001c0008a0002c0006 | a0001c0003t0014a0001c0003t0029a0001c0003t0107others(5): Show | a0001c0003t0014g0022a0001c0003t0014g0025a0001c0003t0014g0049others(10): Show | 13 | 308 | 0.0422 | 5 | c.6-9 others(18): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225631795 | G | GTTGTT | intron_variant | MODIFIER | HG01361.hp1 HG02486.hp2 HG02572.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0106a0001c0003t0014a0001c0003t0029others(7): Show | a0001c0001t0106g0150a0001c0003t0014g0022a0001c0003t0014g0025others(12): Show | 15 | 308 | 0.0487 | 5 | c.5+2 others(20): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
ENAM_chr4_70623744_70651824 | 70638449 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp2 HG02735.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0018a0002c0002t0002a0002c0002t0016others(1): Show | a0001c0001t0018g0055a0002c0002t0002g0020a0002c0002t0002g0032others(2): Show | 9 | 410 | 0.0220 | 5 | c.588 others(20): Show |
ENAM | ENSG00000132464.13 | transcript | ENST00000396073.4 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ENDOD1_chr11_95084846_95137645 | 95096227 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00639.hp1 others(28): Show |
a0001a0002a0004 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(27): Show | 31 | 368 | 0.0842 | 5 | c.300 others(22): Show |
ENDOD1 | ENSG00000149218.5 | transcript | ENST00000278505.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ENDOD1_chr11_95084846_95137645 | 95110580 | T | TGTGTG | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0007a0002c0002t0002 | a0001c0001t0004g0025a0001c0001t0007g0017a0002c0002t0002g0046others(1): Show | 6 | 368 | 0.0163 | 5 | c.301 others(24): Show |
ENDOD1 | ENSG00000149218.5 | transcript | ENST00000278505.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ENDOD1_chr11_95084846_95137645 | 95123588 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0106a0001c0001t0001g0143a0001c0001t0001g0145others(12): Show | 15 | 368 | 0.0408 | 5 | c.301 others(22): Show |
ENDOD1 | ENSG00000149218.5 | transcript | ENST00000278505.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ENDOG_chr9_128813500_128827676 | 128818108 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02258.hp1 others(18): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0001c0003t0002a0002c0002t0001others(1): Show | a0001c0003t0001g0006a0001c0003t0001g0009a0001c0003t0001g0020others(7): Show | 21 | 420 | 0.0500 | 5 | c.-57 others(14): Show |
ENDOG | ENSG00000167136.7 | transcript | ENST00000372642.5 | protein_coding | 391 | chr9 | TogoVar | ||||||
ENDOV_chr17_80410167_80443086 | 80421013 | A | AGGGGT | intron_variant | MODIFIER | HG00544.hp2 HG01261.hp1 HG01515.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0020 | a0001c0001t0002g0039a0001c0001t0007g0023a0001c0001t0007g0040others(10): Show | 17 | 420 | 0.0405 | 5 | c.229 others(20): Show |
ENDOV | ENSG00000173818.17 | transcript | ENST00000518137.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ENGASE_chr17_79069824_79093599 | 79081749 | T | TGTGGG | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00735.hp1 others(68): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(31): Show | a0001c0001t0001g0009a0001c0001t0001g0048a0001c0001t0001g0049others(41): Show | 71 | 420 | 0.1691 | 5 | c.873 others(20): Show |
ENGASE | ENSG00000167280.17 | transcript | ENST00000579016.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ENG_chr9_127810016_127859658 | 127843756 | T | TATATA | intron_variant | MODIFIER | HG01069.hp1 HG02055.hp1 HG02165.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0096others(9): Show | 12 | 344 | 0.0349 | 5 | c.68- others(18): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 1/14 | chr9 | TogoVar | ||||||
ENHO_chr9_34516043_34527990 | 34516729 | A | ATTTTC | downstream_gene_variant | MODIFIER | HG01255.hp2 HG01516.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 416 | 0.0072 | 5 | c.*47 others(16): Show |
ENHO | ENSG00000168913.7 | transcript | ENST00000399775.3 | protein_coding | 4313 | chr9 | TogoVar | ||||||
ENKD1_chr16_67657945_67671750 | 67660954 | G | GGCGGC | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02886.hp2 HG02896.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0005 | 9 | 274 | 0.0329 | 5 | c.*22 others(16): Show |
ENKD1 | ENSG00000124074.12 | transcript | ENST00000243878.9 | protein_coding | 1990 | chr16 | TogoVar | ||||||
ENO1_chr1_8856000_8883686 | 8874577 | C | CAAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0139a0001c0001t0001g0140others(1): Show | 6 | 414 | 0.0145 | 5 | c.85+ others(18): Show |
ENO1 | ENSG00000074800.16 | transcript | ENST00000234590.10 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
ENO1_chr1_8856000_8883686 | 8881385 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG02109.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013a0001c0001t0001g0023a0001c0001t0001g0035others(13): Show | 21 | 414 | 0.0507 | 5 | c.-28 others(16): Show |
ENO1 | ENSG00000074800.16 | transcript | ENST00000234590.10 | protein_coding | 2700 | chr1 | TogoVar | ||||||
ENO1_chr1_8856000_8883686 | 8881399 | A | AAAAAG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0011others(11): Show | 22 | 414 | 0.0531 | 5 | c.-28 others(16): Show |
ENO1 | ENSG00000074800.16 | transcript | ENST00000234590.10 | protein_coding | 2714 | chr1 | TogoVar | ||||||
ENO2_chr12_6909580_6928697 | 6913551 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01943.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0001a0001c0001t0002g0059a0001c0001t0007g0036others(1): Show | 7 | 376 | 0.0186 | 5 | c.-11 others(16): Show |
ENO2 | ENSG00000111674.9 | transcript | ENST00000229277.6 | protein_coding | 1028 | chr12 | TogoVar | ||||||
ENO2_chr12_6909580_6928697 | 6918981 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007a0001c0001t0003g0009a0001c0001t0003g0012others(6): Show | 31 | 376 | 0.0825 | 5 | c.668 others(20): Show |
ENO2 | ENSG00000111674.9 | transcript | ENST00000229277.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ENOPH1_chr4_82425590_82466177 | 82432644 | C | CGTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 HG02723.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0012a0001c0001t0001g0288a0001c0001t0002g0077others(7): Show | 13 | 366 | 0.0355 | 5 | c.84+ others(20): Show |
ENOPH1 | ENSG00000145293.17 | transcript | ENST00000273920.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ENOSF1_chr18_665318_717630 | 667559 | T | TGATGG | downstream_gene_variant | MODIFIER | HG02809.hp2 HG02976.hp1 HG03209.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0011a0002c0002t0031 | a0002c0002t0011g0103a0002c0002t0011g0151a0002c0002t0011g0240others(2): Show | 5 | 418 | 0.0120 | 5 | c.*67 others(16): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2758 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667577 | T | TGATGG | downstream_gene_variant | MODIFIER | HG02818.hp1 HG02976.hp1 HG03209.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0011a0002c0002t0024a0002c0002t0031 | a0002c0002t0011g0151a0002c0002t0011g0240a0002c0002t0011g0299others(2): Show | 5 | 418 | 0.0120 | 5 | c.*67 others(16): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2740 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667617 | G | GGAGAT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(90): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0015others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0017others(16): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0015others(88): Show | 93 | 418 | 0.2225 | 5 | c.*66 others(16): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2700 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 704440 | G | GAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(110): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(18): Show | a0001c0001t0001g0053a0001c0001t0001g0084a0001c0001t0002g0001others(106): Show | 113 | 418 | 0.2703 | 5 | c.193 others(22): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2/15 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 706815 | A | ATATAT | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0012 | a0001c0001t0001g0152a0001c0001t0006g0225a0001c0001t0012g0040others(5): Show | 8 | 418 | 0.0191 | 5 | c.85- others(18): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 706815 | A | ATATTT | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02809.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0058a0002c0002t0011g0103a0002c0002t0011g0104others(3): Show | 6 | 418 | 0.0144 | 5 | c.85- others(18): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 706816 | T | TATATA | intron_variant | MODIFIER | HG02809.hp1 HG02976.hp1 HG03041.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0013a0002c0002t0031 | a0002c0002t0005g0186a0002c0002t0013g0018a0002c0002t0013g0087others(4): Show | 7 | 418 | 0.0168 | 5 | c.85- others(18): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 713470 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00621.hp2 HG01175.hp1 HG01192.hp1 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0006a0001c0006t0004a0002c0002t0025others(8): Show | a0001c0001t0006g0042a0001c0001t0006g0107a0001c0001t0006g0153others(26): Show | 30 | 418 | 0.0718 | 5 | c.-88 others(14): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 841 | chr18 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43417241 | A | AGGGAG | intron_variant | MODIFIER | HG01891.hp1 HG03486.hp2 HG03516.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0004g0102a0001c0001t0006g0141a0001c0001t0009g0072others(4): Show | 7 | 188 | 0.0372 | 5 | c.-74 others(22): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43439041 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01257.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0001t0018others(3): Show | a0001c0001t0004g0114a0001c0001t0009g0032a0001c0001t0018g0103others(4): Show | 7 | 188 | 0.0372 | 5 | c.-74 others(24): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43581125 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0011a0001c0001t0014a0001c0002t0001others(2): Show | a0001c0001t0011g0165a0001c0001t0014g0110a0001c0002t0001g0066others(2): Show | 5 | 188 | 0.0266 | 5 | c.-21 others(26): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43616204 | A | ATTTTT | intron_variant | MODIFIER | HG00738.hp2 NA18959.hp2 NA18970.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0003g0008others(5): Show | 8 | 188 | 0.0426 | 5 | c.-21 others(26): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43641529 | A | ATTTTT | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG01258.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0063a0001c0001t0002g0074a0001c0001t0002g0082others(27): Show | 30 | 188 | 0.1596 | 5 | c.-21 others(26): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43684095 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp2 HG01074.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0080a0001c0001t0002g0064a0001c0001t0002g0074others(35): Show | 38 | 188 | 0.2021 | 5 | c.-28 others(26): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43702953 | C | CAAAAA | intron_variant | MODIFIER | HG02071.hp1 HG02083.hp1 HG02155.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0003g0085a0001c0001t0004g0089a0001c0001t0008g0107others(5): Show | 8 | 188 | 0.0426 | 5 | c.-28 others(26): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43718676 | C | CAAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0004g0071a0001c0001t0005g0172a0001c0001t0009g0020others(2): Show | 5 | 188 | 0.0266 | 5 | c.-28 others(26): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43740472 | C | CATTTT | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02280.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0021a0001c0001t0004g0044a0001c0001t0004g0045others(16): Show | 19 | 188 | 0.1011 | 5 | c.-28 others(26): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43752980 | C | CAGAAA | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp2 HG01074.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0080a0001c0001t0002g0064a0001c0001t0002g0074others(30): Show | 33 | 188 | 0.1755 | 5 | c.-28 others(26): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | ||||||
ENOX2_chrX_130617325_130908209 | 130632364 | C | CGGGGG | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01358.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0008a0001c0001t0001g0022a0001c0001t0001g0027others(10): Show | 13 | 154 | 0.0844 | 5 | c.142 others(22): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 12/14 | chrX | TogoVar | ||||||
ENOX2_chrX_130617325_130908209 | 130682583 | C | CAAAAA | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 154 | 0.0065 | 5 | c.254 others(22): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 5/14 | chrX | TogoVar | ||||||
ENPEP_chr4_110471155_110570285 | 110534504 | C | CTTTTT | intron_variant | MODIFIER | HG01106.hp2 HG02293.hp2 HG03516.hp1 others(3): Show |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(1): Show | a0002c0002t0001g0081a0002c0002t0001g0091a0002c0002t0001g0223others(3): Show | 6 | 312 | 0.0192 | 5 | c.180 others(24): Show |
ENPEP | ENSG00000138792.10 | transcript | ENST00000265162.10 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ENPP1_chr6_131803020_131900155 | 131824469 | G | GTTGTT | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00609.hp1 others(84): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0136a0001c0001t0001g0142a0001c0001t0001g0146others(84): Show | 87 | 292 | 0.2980 | 5 | c.240 others(24): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENPP1_chr6_131803020_131900155 | 131831114 | C | CAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG01433.hp1 NA18980.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0013others(1): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0004others(2): Show | a0001c0001t0002g0045a0001c0001t0002g0056a0001c0001t0003g0057others(4): Show | 7 | 292 | 0.0240 | 5 | c.241 others(24): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENPP1_chr6_131803020_131900155 | 131844587 | G | GAAAGT | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00673.hp2 others(80): Show |
a0002a0010a0012 | a0002c0002a0002c0004a0002c0006others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(39): Show | a0002c0002t0001g0061a0002c0002t0001g0227a0002c0002t0002g0209others(79): Show | 83 | 292 | 0.2843 | 5 | c.241 others(22): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |