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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFCAB13_chr17_47318955_47446312 | 47322216 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 356 | 0.0028 | -10 | c.-21 others(21): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 1738 | chr17 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47325923 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01433.hp2 others(6): Show |
a0001a0006a0014 | a0001c0006a0006c0007a0014c0019 | a0001c0006t0001a0001c0006t0002a0006c0007t0001others(2): Show | a0001c0006t0001g0100a0001c0006t0002g0102a0006c0007t0001g0059others(6): Show | 9 | 356 | 0.0253 | -10 | c.-24 others(27): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB13_chr17_47318955_47446312 | 47441354 | TTGTGTGT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0140 | 1 | 356 | 0.0028 | -10 | c.*64 others(19): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 43 | chr17 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47444770 | CCTGATCA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18999.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0029 | 1 | 356 | 0.0028 | -10 | c.*40 others(21): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 3459 | chr17 | TogoVar | ||||||
EFCAB14_chr1_46670159_46724114 | 46690078 | TGGACTCA others(3): Show |
T | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 374 | 0.0027 | -10 | c.691 others(25): Show |
EFCAB14 | ENSG00000159658.15 | transcript | ENST00000371933.8 | protein_coding | 5/10 | chr1 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 244980040 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | NA19090.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081a0001c0001t0003g0082 | 2 | 290 | 0.0069 | -10 | c.25+ others(25): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 245065073 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0190 | 1 | 290 | 0.0035 | -10 | c.183 others(27): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 245082424 | CTTCTGTT others(3): Show |
C | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 290 | 0.0035 | -10 | c.263 others(25): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | chr1 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 29970659 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0102 | 1 | 248 | 0.0040 | -10 | c.767 others(27): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 29994133 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01261.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111a0001c0001t0001g0152a0001c0001t0001g0162others(5): Show | 8 | 248 | 0.0323 | -10 | c.924 others(25): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30008154 | GGATGAAA others(3): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG03225.hp1 HG03471.hp1 |
a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0016a0006c0008t0002g0017a0006c0008t0002g0018 | 3 | 248 | 0.0121 | -10 | c.104 others(29): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30026961 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(48): Show |
a0001a0011a0012 | a0001c0001a0001c0024a0011c0022others(1): Show | a0001c0001t0001a0001c0024t0004a0011c0022t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(48): Show | 51 | 248 | 0.2057 | -10 | c.104 others(29): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30070949 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18940.hp2 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0166 | 2 | 248 | 0.0081 | -10 | c.273 others(29): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30094507 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0003 | a0003c0013 | a0003c0013t0002 | a0003c0013t0002g0217 | 1 | 248 | 0.0040 | -10 | c.432 others(29): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30096652 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 248 | 0.0040 | -10 | c.432 others(29): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30097039 | TATACATA others(3): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG03834.hp2 NA19064.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0158a0001c0001t0001g0171a0002c0002t0002g0033 | 3 | 248 | 0.0121 | -10 | c.432 others(29): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB6_chr22_43523778_43817305 | 43524509 | CGTGTGTG others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03209.hp1 NA19043.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0001g0086 | 3 | 290 | 0.0103 | -10 | c.*43 others(21): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 4268 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43530977 | CAAGAAGG others(3): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG01515.hp2 HG01517.hp2 others(6): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0267a0006c0006t0001g0268a0006c0006t0001g0269others(6): Show | 9 | 290 | 0.0310 | -10 | c.423 others(25): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 30/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43589280 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01934.hp1 HG02145.hp1 others(1): Show |
a0002a0016 | a0002c0002a0002c0019a0016c0026 | a0002c0002t0001a0002c0019t0001a0016c0026t0001 | a0002c0002t0001g0116a0002c0002t0001g0118a0002c0019t0001g0125others(1): Show | 4 | 290 | 0.0138 | -10 | c.303 others(27): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 24/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43599509 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG03669.hp1 others(1): Show |
a0001a0003 | a0001c0013a0003c0003 | a0001c0013t0001a0003c0003t0001 | a0001c0013t0001g0188a0001c0013t0001g0208a0003c0003t0001g0023others(1): Show | 4 | 290 | 0.0138 | -10 | c.287 others(27): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 23/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43632294 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(30): Show |
a0002a0004a0005others(3): Show | a0002c0021a0004c0005a0004c0009others(4): Show | a0002c0021t0001a0004c0005t0001a0004c0009t0001others(4): Show | a0002c0021t0001g0179a0002c0021t0001g0250a0004c0005t0001g0021others(30): Show | 33 | 290 | 0.1138 | -10 | c.209 others(25): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 18/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43636247 | ACAGATGT others(3): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG02145.hp1 HG02280.hp2 others(7): Show |
a0002 | a0002c0002a0002c0019a0002c0037 | a0002c0002t0001a0002c0019t0001a0002c0037t0001 | a0002c0002t0001g0115a0002c0002t0001g0116a0002c0002t0001g0117others(7): Show | 10 | 290 | 0.0345 | -10 | c.198 others(29): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 17/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43657457 | GTTTTGGA others(3): Show |
G | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0014 | a0014c0017 | a0014c0017t0001 | a0014c0017t0001g0282a0014c0017t0001g0283 | 2 | 290 | 0.0069 | -10 | c.198 others(29): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 17/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43678329 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01243.hp1 HG01346.hp1 others(9): Show |
a0006a0013a0022 | a0006c0006a0013c0018a0022c0039 | a0006c0006t0001a0013c0018t0001a0022c0039t0001 | a0006c0006t0001g0265a0006c0006t0001g0267a0006c0006t0001g0268others(9): Show | 12 | 290 | 0.0414 | -10 | c.125 others(27): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 12/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43787352 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG03942.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0232 | 1 | 290 | 0.0035 | -10 | c.-7- others(25): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43806185 | GGGGGAGG others(3): Show |
G | intron_variant | MODIFIER | HG01346.hp1 NA20805.hp2 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0267a0006c0006t0001g0268 | 2 | 290 | 0.0069 | -10 | c.-8+ others(25): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | ||||||
EFCAB7_chr1_63518525_63577693 | 63559301 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0100 | 1 | 374 | 0.0027 | -10 | c.134 others(29): Show |
EFCAB7 | ENSG00000203965.13 | transcript | ENST00000371088.5 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB7_chr1_63518525_63577693 | 63562445 | TTATTTAT others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG01070.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0246a0001c0002t0001g0003a0001c0002t0001g0069others(16): Show | 23 | 374 | 0.0615 | -10 | c.149 others(27): Show |
EFCAB7 | ENSG00000203965.13 | transcript | ENST00000371088.5 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB8_chr20_32853923_32966845 | 32876914 | GCTGAGAT others(3): Show |
G | intron_variant | MODIFIER | NA18968.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0021 | 1 | 284 | 0.0035 | -10 | c.327 others(25): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 4/26 | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32890241 | GTGCTGTG others(3): Show |
G | intron_variant | MODIFIER | HG01358.hp2 HG02280.hp2 HG03017.hp2 others(4): Show |
a0002a0003a0008others(2): Show | a0002c0011a0003c0003a0008c0007others(2): Show | a0002c0011t0001a0003c0003t0001a0008c0007t0003others(2): Show | a0002c0011t0001g0100a0003c0003t0001g0279a0003c0003t0001g0282others(4): Show | 7 | 284 | 0.0247 | -10 | c.673 others(25): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EFCAB8_chr20_32853923_32966845 | 32920580 | CGGAAACC others(3): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0151 | 2 | 284 | 0.0070 | -10 | 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 | 32935188 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0245 | 1 | 284 | 0.0035 | -10 | c.279 others(29): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EFCC1_chr3_128996304_129045742 | 129027139 | AACGCCTG others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0214 | 3 | 354 | 0.0085 | -10 | c.981 others(27): Show |
EFCC1 | ENSG00000114654.8 | transcript | ENST00000683648.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EFHB_chr3_19874472_19939217 | 19892855 | CTAAAATA others(3): Show |
C | intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 344 | 0.0029 | -10 | c.172 others(29): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 9/12 | chr3 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19908554 | AAGAGAGA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 344 | 0.0029 | -10 | c.128 others(29): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19908562 | AAGAGAGA others(3): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp2 HG02922.hp2 others(3): Show |
a0002a0007a0023 | a0002c0009a0007c0007a0023c0034 | a0002c0009t0002a0007c0007t0002a0023c0034t0001 | a0002c0009t0002g0321a0007c0007t0002g0015a0007c0007t0002g0304others(2): Show | 6 | 344 | 0.0174 | -10 | c.128 others(29): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19908592 | GAGAGAGA others(3): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02040.hp1 others(1): Show |
a0003a0007 | a0003c0004a0007c0007 | a0003c0004t0001a0007c0007t0002 | a0003c0004t0001g0006a0003c0004t0001g0142a0007c0007t0002g0264 | 4 | 344 | 0.0116 | -10 | c.128 others(29): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19908600 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0202 | 1 | 344 | 0.0029 | -10 | c.128 others(29): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
EFHC1_chr6_52415342_52502198 | 52496198 | ACACACAC others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG04184.hp2 | a0004 | a0004c0004 | a0004c0004t0061 | a0004c0004t0061g0025 | 1 | 396 | 0.0025 | -10 | c.*38 others(21): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 11/11 | 3867 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
EFHC2_chrX_44142872_44348672 | 44178129 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0031a0001c0001t0008g0035a0001c0001t0008g0041others(2): Show | 5 | 221 | 0.0226 | -10 | c.194 others(27): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44209019 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01361.hp2 HG02004.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0070others(11): Show | 14 | 221 | 0.0634 | -10 | c.175 others(31): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44251597 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0038a0001c0001t0003g0037 | 2 | 221 | 0.0091 | -10 | c.607 others(27): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44282627 | GGGGGGGG others(3): Show |
G | intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0091 | 1 | 221 | 0.0045 | -10 | c.232 others(27): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44294249 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp1 HG03017.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0045others(4): Show | 7 | 221 | 0.0317 | -10 | c.231 others(29): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHD1_chr2_232628604_232687776 | 232677000 | TAAAACAA others(3): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp1 HG02055.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0033a0001c0001t0001g0036others(12): Show | 16 | 382 | 0.0419 | -10 | c.586 others(27): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFHD1_chr2_232628604_232687776 | 232677207 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01361.hp2 HG01884.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0003a0001c0004t0003a0002c0002t0005others(1): Show | a0001c0001t0003g0056a0001c0001t0003g0245a0001c0001t0003g0335others(6): Show | 9 | 382 | 0.0236 | -10 | c.586 others(27): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFHD1_chr2_232628604_232687776 | 232677264 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01891.hp1 others(21): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0001g0308a0001c0001t0006g0025a0001c0001t0006g0026others(20): Show | 24 | 382 | 0.0628 | -10 | c.586 others(27): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFHD1_chr2_232628604_232687776 | 232687352 | AAAAAGAA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(61): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0172others(59): Show | 64 | 382 | 0.1675 | -10 | c.*56 others(21): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 4577 | chr2 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82180378 | AAAAAACA others(3): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0186 | 1 | 368 | 0.0027 | -10 | c.175 others(31): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82185169 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01993.hp1 others(11): Show |
a0001a0007 | a0001c0001a0001c0008a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(1): Show | a0001c0001t0001g0263a0001c0001t0001g0301a0001c0001t0001g0304others(11): Show | 14 | 368 | 0.0380 | -10 | c.175 others(31): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar |