view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFCAB6_chr22_43523778_43817305 | 43582341 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02300.hp1 HG02922.hp1 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0257a0006c0006t0001g0265a0006c0006t0001g0276 | 3 | 290 | 0.0103 | 8 | c.303 others(27): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 24/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43586340 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01243.hp2 HG02004.hp1 others(7): Show |
a0006a0007 | a0006c0006a0007c0014 | a0006c0006t0001a0007c0014t0002 | a0006c0006t0001g0163a0006c0006t0001g0265a0006c0006t0001g0269others(7): Show | 10 | 290 | 0.0345 | 8 | c.303 others(27): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 24/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43614177 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp1 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0013a0001c0035a0002c0002others(4): Show | a0001c0013t0001a0001c0035t0001a0002c0002t0001others(4): Show | a0001c0013t0001g0188a0001c0013t0001g0208a0001c0035t0001g0235others(31): Show | 34 | 290 | 0.1172 | 8 | c.256 others(27): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 21/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43618143 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18939.hp2 NA18943.hp1 others(5): Show |
a0001a0002a0008 | a0001c0001a0002c0021a0008c0008 | a0001c0001t0001a0002c0021t0001a0008c0008t0001 | a0001c0001t0001g0040a0001c0001t0001g0074a0001c0001t0001g0076others(5): Show | 8 | 290 | 0.0276 | 8 | c.246 others(27): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43618165 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01069.hp1 others(12): Show |
a0002a0004a0005others(2): Show | a0002c0002a0002c0019a0004c0005others(6): Show | a0002c0002t0001a0002c0019t0001a0004c0005t0001others(6): Show | a0002c0002t0001g0118a0002c0002t0001g0133a0002c0019t0001g0125others(12): Show | 15 | 290 | 0.0517 | 8 | c.246 others(27): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43618165 | G | GGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01496.hp2 HG01516.hp2 others(8): Show |
a0001a0004a0005others(3): Show | a0001c0023a0004c0012a0005c0004others(4): Show | a0001c0023t0001a0004c0012t0001a0005c0004t0001others(4): Show | a0001c0023t0001g0254a0004c0012t0001g0097a0005c0004t0001g0110others(8): Show | 11 | 290 | 0.0379 | 8 | c.246 others(27): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43636577 | T | TGGCAGAC others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02109.hp1 HG02572.hp1 others(15): Show |
a0001a0007a0014others(1): Show | a0001c0001a0007c0007a0007c0014others(2): Show | a0001c0001t0001a0007c0007t0001a0007c0007t0002others(4): Show | a0001c0001t0001g0153a0007c0007t0001g0154a0007c0007t0001g0155others(15): Show | 18 | 290 | 0.0621 | 8 | c.198 others(27): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 17/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43678329 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02300.hp2 HG02622.hp1 others(2): Show |
a0001a0008a0023 | a0001c0001a0001c0023a0008c0008others(1): Show | a0001c0001t0001a0001c0023t0001a0008c0008t0001others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0196a0001c0023t0001g0254others(2): Show | 5 | 290 | 0.0172 | 8 | c.125 others(25): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 12/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43689349 | G | GCACAAAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00639.hp2 others(11): Show |
a0001a0003a0012others(4): Show | a0001c0001a0003c0003a0012c0016others(4): Show | a0001c0001t0002a0003c0003t0001a0012c0016t0001others(5): Show | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0008others(11): Show | 14 | 290 | 0.0483 | 8 | c.103 others(27): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 10/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43689349 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01169.hp1 others(28): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0002c0037others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0037t0001others(8): Show | a0001c0001t0001g0153a0002c0002t0001g0115a0002c0002t0001g0116others(28): Show | 31 | 290 | 0.1069 | 8 | c.103 others(27): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 10/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43718063 | C | CCCATCCA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(99): Show |
a0001a0002a0004others(14): Show | a0001c0001a0001c0023a0001c0027others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0023t0001others(23): Show | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(99): Show | 102 | 290 | 0.3517 | 8 | c.758 others(25): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 8/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43784511 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 NA18944.hp1 others(4): Show |
a0001a0003 | a0001c0013a0003c0003 | a0001c0013t0001a0003c0003t0001 | a0001c0013t0001g0208a0003c0003t0001g0207a0003c0003t0001g0209others(4): Show | 7 | 290 | 0.0241 | 8 | c.-7- others(23): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43789847 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01516.hp1 HG01517.hp1 others(6): Show |
a0001a0003a0007others(1): Show | a0001c0013a0003c0003a0007c0014others(1): Show | a0001c0013t0001a0003c0003t0001a0007c0014t0002others(1): Show | a0001c0013t0001g0233a0003c0003t0001g0072a0003c0003t0001g0211others(6): Show | 9 | 290 | 0.0310 | 8 | c.-7- others(23): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43799329 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01261.hp2 others(11): Show |
a0001a0005a0011others(3): Show | a0001c0001a0005c0004a0005c0045others(4): Show | a0001c0001t0001a0001c0001t0002a0005c0004t0001others(5): Show | a0001c0001t0001g0083a0001c0001t0002g0006a0001c0001t0002g0007others(11): Show | 14 | 290 | 0.0483 | 8 | c.-8+ others(23): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | |||||||
EFCAB7_chr1_63518525_63577693 | 63562449 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02129.hp1 NA18991.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0168a0001c0001t0001g0173others(1): Show | 4 | 374 | 0.0107 | 8 | c.149 others(25): Show |
EFCAB7 | ENSG00000203965.13 | transcript | ENST00000371088.5 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32921361 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01081.hp2 others(23): Show |
a0004a0005a0006others(4): Show | a0004c0004a0005c0037a0006c0005others(4): Show | a0004c0004t0001a0004c0004t0003a0005c0037t0004others(7): Show | a0004c0004t0001g0089a0004c0004t0003g0085a0004c0004t0003g0086others(23): Show | 26 | 284 | 0.0916 | 8 | c.241 others(27): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32939125 | C | CCCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01255.hp2 HG01516.hp1 others(4): Show |
a0002a0004 | a0002c0002a0002c0022a0004c0004 | a0002c0002t0002a0002c0022t0002a0004c0004t0003 | a0002c0002t0002g0022a0002c0002t0002g0028a0002c0022t0002g0015others(4): Show | 7 | 284 | 0.0247 | 8 | c.279 others(27): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | chr20 | TogoVar | |||||||
EFCAB8_chr20_32853923_32966845 | 32939125 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01255.hp1 others(5): Show |
a0001a0003a0016others(2): Show | a0001c0001a0003c0003a0016c0018others(2): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(3): Show | a0001c0001t0001g0153a0001c0001t0001g0155a0001c0001t0001g0158others(5): Show | 8 | 284 | 0.0282 | 8 | c.279 others(27): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32939999 | G | GCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01071.hp1 others(13): Show |
a0006a0013a0018others(1): Show | a0006c0005a0013c0020a0018c0051others(1): Show | a0006c0005t0003a0006c0005t0006a0013c0020t0003others(2): Show | a0006c0005t0003g0064a0006c0005t0003g0065a0006c0005t0003g0067others(13): Show | 16 | 284 | 0.0563 | 8 | c.279 others(27): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32940003 | G | GCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01943.hp2 HG01975.hp2 others(17): Show |
a0001a0002a0007others(2): Show | a0001c0001a0002c0002a0002c0011others(4): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0206others(17): Show | 20 | 284 | 0.0704 | 8 | c.279 others(27): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32940023 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01081.hp1 HG01175.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0103a0001c0001t0001g0106a0001c0001t0001g0146others(9): Show | 12 | 284 | 0.0423 | 8 | c.279 others(27): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32948524 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01192.hp1 others(12): Show |
a0001a0004a0005others(8): Show | a0001c0001a0004c0004a0005c0008others(8): Show | a0001c0001t0001a0001c0001t0005a0004c0004t0003others(9): Show | a0001c0001t0001g0061a0001c0001t0001g0208a0001c0001t0005g0220others(12): Show | 15 | 284 | 0.0528 | 8 | c.295 others(27): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB9_chr5_172189172_172208454 | 172195153 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02895.hp2 HG02897.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041a0001c0001t0001g0053a0001c0001t0001g0104others(5): Show | 10 | 408 | 0.0245 | 8 | c.136 others(23): Show |
EFCAB9 | ENSG00000214360.5 | transcript | ENST00000398186.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EFEMP1_chr2_55860967_55928782 | 55873066 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0019others(40): Show | 52 | 350 | 0.1486 | 8 | c.100 others(27): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 9/11 | chr2 | TogoVar | |||||||
EFEMP1_chr2_55860967_55928782 | 55875365 | C | CACACATA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG03017.hp2 |
a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0297a0001c0004t0010g0299a0001c0004t0010g0300 | 3 | 350 | 0.0086 | 8 | c.881 others(23): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
EFEMP1_chr2_55860967_55928782 | 55888657 | A | AAGAAAAC others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01175.hp2 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0146a0001c0001t0001g0225 | 3 | 350 | 0.0086 | 8 | c.518 others(25): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 5/11 | chr2 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19880229 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01106.hp1 HG01109.hp2 others(27): Show |
a0002a0003a0006others(4): Show | a0002c0003a0002c0009a0002c0024others(6): Show | a0002c0003t0001a0002c0009t0002a0002c0024t0001others(6): Show | a0002c0003t0001g0044a0002c0003t0001g0045a0002c0003t0001g0046others(26): Show | 30 | 344 | 0.0872 | 8 | c.232 others(25): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 12/12 | chr3 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19882047 | A | ATAAATAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(33): Show |
a0001a0002a0016others(2): Show | a0001c0028a0002c0003a0002c0024others(3): Show | a0001c0028t0002a0002c0003t0001a0002c0024t0001others(3): Show | a0001c0028t0002g0227a0002c0003t0001g0002a0002c0003t0001g0003others(30): Show | 36 | 344 | 0.1047 | 8 | c.232 others(25): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 12/12 | chr3 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19882055 | A | ATAAATAA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02615.hp2 HG02976.hp1 |
a0002a0006 | a0002c0003a0002c0009a0006c0008 | a0002c0003t0001a0002c0009t0002a0006c0008t0001 | a0002c0003t0001g0059a0002c0009t0002g0321a0006c0008t0001g0074 | 3 | 344 | 0.0087 | 8 | c.232 others(25): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 12/12 | chr3 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19892883 | A | AAATAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01074.hp2 HG01433.hp2 others(14): Show |
a0002a0005a0008others(1): Show | a0002c0002a0005c0006a0008c0011others(1): Show | a0002c0002t0001a0005c0006t0001a0005c0006t0003others(2): Show | a0002c0002t0001g0065a0002c0002t0001g0117a0005c0006t0001g0072others(14): Show | 17 | 344 | 0.0494 | 8 | c.172 others(27): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 9/12 | chr3 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19908594 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01099.hp1 HG01169.hp1 others(7): Show |
a0001a0002a0010 | a0001c0001a0001c0026a0002c0002others(1): Show | a0001c0001t0002a0001c0026t0001a0002c0002t0001others(1): Show | a0001c0001t0002g0229a0001c0001t0002g0254a0001c0001t0002g0255others(7): Show | 10 | 344 | 0.0291 | 8 | c.128 others(27): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19908598 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02004.hp2 HG02970.hp1 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0002a0003c0004t0001a0004c0005t0001 | a0001c0001t0002g0226a0001c0001t0002g0236a0003c0004t0001g0173others(2): Show | 5 | 344 | 0.0145 | 8 | c.128 others(27): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19936873 | T | TAATAAAT others(1): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02976.hp1 others(6): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0002c0010others(3): Show | a0001c0001t0002a0002c0002t0002a0002c0010t0002others(4): Show | a0001c0001t0002g0282a0002c0002t0002g0285a0002c0010t0002g0189others(6): Show | 9 | 344 | 0.0262 | 8 | c.-28 others(19): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 2657 | chr3 | TogoVar | |||||||
EFHC1_chr6_52415342_52502198 | 52481504 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02965.hp1 HG03834.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0053a0002c0002t0078others(1): Show | a0001c0001t0011g0050a0002c0002t0053g0209a0002c0002t0078g0211others(1): Show | 4 | 396 | 0.0101 | 8 | c.164 others(27): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44148226 | C | CGTGTGTG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp1 HG06807.hp2 NA18747.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0011a0001c0001t0024a0007c0009t0017 | a0001c0001t0011g0011a0001c0001t0011g0048a0001c0001t0011g0049others(2): Show | 5 | 221 | 0.0226 | 8 | c.*56 others(17): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 568 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44148230 | C | CGTGTGTG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | 221 | 0.0679 | 8 | c.*55 others(17): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 564 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44178129 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0194a0001c0001t0002g0038a0001c0001t0003g0171others(6): Show | 9 | 221 | 0.0407 | 8 | c.194 others(25): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44192061 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01361.hp1 HG03041.hp1 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0002a0004c0004t0002others(1): Show | a0001c0001t0001g0008a0003c0003t0002g0100a0004c0004t0002g0022others(1): Show | 4 | 221 | 0.0181 | 8 | c.175 others(29): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44251597 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 221 | 0.0045 | 8 | c.607 others(25): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44262531 | A | AAAGAAAA others(1): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01934.hp1 HG02280.hp2 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0006others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(13): Show | 16 | 221 | 0.0724 | 8 | c.383 others(25): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44280030 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03098.hp1 HG03195.hp1 others(3): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0012 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0200a0001c0001t0005g0091a0001c0001t0008g0199others(3): Show | 6 | 221 | 0.0272 | 8 | c.232 others(25): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44339191 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(18): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0006a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0103others(18): Show | 21 | 221 | 0.0950 | 8 | c.42+ others(23): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44347996 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(104): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0015others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(104): Show | 107 | 221 | 0.4842 | 8 | c.-44 others(19): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4325 | chrX | TogoVar | |||||||
EFHD1_chr2_232628604_232687776 | 232647643 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(68): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0172a0001c0001t0001g0194a0001c0001t0001g0315others(62): Show | 71 | 382 | 0.1859 | 8 | c.302 others(27): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFHD1_chr2_232628604_232687776 | 232677207 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02818.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0004t0002others(2): Show | a0001c0001t0001g0308a0001c0001t0006g0269a0001c0004t0002g0016others(2): Show | 5 | 382 | 0.0131 | 8 | c.586 others(25): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82138426 | G | GAGAGTGT others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01496.hp1 HG01516.hp2 others(51): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0001a0002c0002t0001 | a0001c0005t0001g0061a0002c0002t0001g0030a0002c0002t0001g0062others(51): Show | 54 | 368 | 0.1467 | 8 | c.317 others(25): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 19/19 | chr15 | TogoVar | |||||||
EFL1_chr15_82125233_82267734 | 82138430 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02615.hp2 HG03130.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0345a0001c0008t0001g0359a0001c0008t0001g0360others(5): Show | 8 | 368 | 0.0217 | 8 | c.317 others(25): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 19/19 | chr15 | TogoVar | |||||||
EFL1_chr15_82125233_82267734 | 82181622 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02647.hp2 NA20300.hp1 |
a0001a0010 | a0001c0008a0010c0014 | a0001c0008t0001a0010c0014t0001 | a0001c0008t0001g0010a0001c0008t0001g0011a0010c0014t0001g0009 | 3 | 368 | 0.0082 | 8 | c.175 others(29): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | |||||||
EFL1_chr15_82125233_82267734 | 82207307 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01891.hp2 HG02145.hp1 others(22): Show |
a0001a0002a0004others(4): Show | a0001c0005a0001c0008a0002c0002others(5): Show | a0001c0005t0001a0001c0008t0001a0002c0002t0001others(5): Show | a0001c0005t0001g0026a0001c0008t0001g0011a0002c0002t0001g0100others(22): Show | 25 | 368 | 0.0679 | 8 | c.175 others(27): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | |||||||
EFL1_chr15_82125233_82267734 | 82209310 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
a0001a0004a0007 | a0001c0001a0004c0006a0007c0010 | a0001c0001t0001a0004c0006t0001a0007c0010t0001 | a0001c0001t0001g0291a0004c0006t0001g0188a0004c0006t0001g0191others(3): Show | 6 | 368 | 0.0163 | 8 | c.175 others(27): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar |