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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCAPER_chr15_76342904_76910340 | 76615492 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02080.hp2 HG02083.hp1 others(5): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0009 | a0001c0001t0001a0003c0003t0002a0003c0003t0006others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0003c0003t0002g0188others(5): Show | 8 | 312 | 0.0256 | -10 | c.271 others(29): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 22/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76637742 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG01070.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0032others(25): Show | 28 | 312 | 0.0897 | -10 | c.264 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76652269 | AAAAAATA others(3): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 312 | 0.0032 | -10 | c.264 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76652273 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02132.hp2 NA18961.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0259a0002c0002t0002g0260a0002c0002t0002g0279others(3): Show | 6 | 312 | 0.0192 | -10 | c.264 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76652518 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 312 | 0.0032 | -10 | c.264 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76667625 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 312 | 0.0032 | -10 | c.250 others(29): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 20/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76673952 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02970.hp2 others(1): Show |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0002a0006c0008t0001 | a0002c0002t0002g0289a0006c0008t0001g0174a0006c0008t0001g0175others(1): Show | 4 | 312 | 0.0128 | -10 | c.250 others(29): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 20/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76688843 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02132.hp2 HG02486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0014a0001c0001t0001g0015a0002c0002t0002g0259others(1): Show | 4 | 312 | 0.0128 | -10 | c.250 others(31): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 20/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76726146 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02056.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0088 | 2 | 312 | 0.0064 | -10 | c.216 others(29): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 17/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76903070 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0013 | a0013c0021 | a0013c0021t0001 | a0013c0021t0001g0197 | 1 | 312 | 0.0032 | -10 | c.-60 others(27): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 1/31 | chr15 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47416615 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp1 NA20752.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0082a0002c0002t0001g0167 | 2 | 304 | 0.0066 | -10 | c.305 others(27): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 18/22 | chr3 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47435465 | AACATACA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00621.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053a0002c0002t0001g0064a0002c0002t0001g0066others(10): Show | 13 | 304 | 0.0428 | -10 | c.123 others(25): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47435469 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02083.hp1 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222a0001c0001t0001g0223 | 2 | 304 | 0.0066 | -10 | c.123 others(25): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47438500 | AACTTGCT others(3): Show |
A | intron_variant | MODIFIER | HG03654.hp2 HG04228.hp2 NA20905.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103a0002c0002t0001g0109a0002c0002t0001g0114 | 3 | 304 | 0.0099 | -10 | c.123 others(27): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47443233 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02027.hp1 HG02572.hp2 NA18966.hp2 others(5): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0014 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0217a0001c0001t0006g0001others(5): Show | 8 | 304 | 0.0263 | -10 | c.-98 others(25): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47443268 | ACACACAC others(3): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0164 | 1 | 304 | 0.0033 | -10 | c.-98 others(25): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47455062 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG00738.hp1 others(30): Show |
a0001a0002a0011 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0001others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(30): Show | 33 | 304 | 0.1086 | -10 | c.-98 others(29): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SCARA3_chr8_27628902_27678018 | 27638314 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00597.hp2 others(64): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0003g0006a0001c0001t0003g0007a0001c0001t0003g0008others(60): Show | 67 | 408 | 0.1642 | -10 | c.7+4 others(23): Show |
SCARA3 | ENSG00000168077.14 | transcript | ENST00000301904.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27865577 | TTATATAT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0018others(21): Show | a0001c0001t0001g0163a0001c0001t0001g0241a0001c0001t0008g0171others(32): Show | 35 | 314 | 0.1115 | -10 | c.*63 others(21): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4305 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27865783 | ATATATTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01261.hp1 NA18943.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0010a0001c0007t0001 | a0001c0001t0010g0109a0001c0007t0001g0117 | 2 | 314 | 0.0064 | -10 | c.*61 others(21): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4099 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27865785 | ATATTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02886.hp1 NA18979.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0008a0001c0001t0010a0001c0003t0042others(2): Show | a0001c0001t0008g0294a0001c0001t0010g0042a0001c0003t0042g0009others(2): Show | 5 | 314 | 0.0159 | -10 | c.*61 others(21): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4097 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27865787 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0147a0001c0001t0001g0150a0001c0001t0002g0058others(19): Show | 22 | 314 | 0.0701 | -10 | c.*61 others(21): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4095 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27948263 | TGACTTAG others(3): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02258.hp2 others(3): Show |
a0001a0002 | a0001c0005a0001c0008a0001c0009others(1): Show | a0001c0005t0004a0001c0005t0063a0001c0008t0057others(2): Show | a0001c0005t0004g0178a0001c0005t0004g0179a0001c0005t0063g0312others(3): Show | 6 | 314 | 0.0191 | -10 | c.241 others(29): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
SCCPDH_chr1_246719409_246773137 | 246722502 | AATATATA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01975.hp1 HG02257.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0004 | a0001c0001t0001g0005a0001c0001t0001g0130a0001c0001t0007g0057others(1): Show | 4 | 410 | 0.0098 | -10 | c.-19 others(21): Show |
SCCPDH | ENSG00000143653.10 | transcript | ENST00000366510.4 | protein_coding | 1906 | chr1 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82649180 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0075a0001c0001t0001g0081others(8): Show | 11 | 210 | 0.0524 | -10 | c.570 others(29): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82664991 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp2 NA18906.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023 | a0001c0001t0002g0101a0001c0001t0002g0102a0001c0001t0023g0082 | 3 | 210 | 0.0143 | -10 | c.569 others(29): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82664993 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 210 | 0.0048 | -10 | c.569 others(29): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82679209 | AAAAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG03831.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0020 | a0001c0001t0001g0083a0001c0001t0006g0002a0001c0001t0020g0120 | 3 | 210 | 0.0143 | -10 | c.569 others(27): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82700787 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG01109.hp2 others(42): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0028others(42): Show | 45 | 210 | 0.2143 | -10 | c.363 others(27): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82712243 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0022a0001c0001t0001g0057a0001c0001t0001g0157others(2): Show | 5 | 210 | 0.0238 | -10 | c.233 others(27): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82725859 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00621.hp2 others(97): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0019others(97): Show | 100 | 210 | 0.4762 | -10 | c.233 others(29): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82795809 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0206 | 1 | 210 | 0.0048 | -10 | c.232 others(27): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCEL_chr13_77530706_77650263 | 77559510 | AAACACAA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(71): Show |
a0001a0002a0004others(3): Show | a0001c0004a0002c0001a0002c0014others(4): Show | a0001c0004t0001a0002c0001t0001a0002c0001t0002others(6): Show | a0001c0004t0001g0133a0001c0004t0001g0134a0001c0004t0001g0286others(71): Show | 74 | 356 | 0.2079 | -10 | c.162 others(25): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCEL_chr13_77530706_77650263 | 77612456 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00639.hp2 others(101): Show |
a0001a0003a0004others(3): Show | a0001c0004a0003c0003a0003c0005others(5): Show | a0001c0004t0001a0003c0003t0001a0003c0003t0004others(7): Show | a0001c0004t0001g0133a0001c0004t0001g0134a0001c0004t0001g0200others(100): Show | 104 | 356 | 0.2921 | -10 | c.133 others(27): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 22/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCEL_chr13_77530706_77650263 | 77616002 | CTCTGTGT others(3): Show |
C | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0023 | 1 | 356 | 0.0028 | -10 | c.145 others(29): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 24/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30703910 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG01975.hp1 NA20805.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0225a0002c0002t0001g0311 | 2 | 328 | 0.0061 | -10 | c.149 others(29): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30703954 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01496.hp1 HG01891.hp2 others(17): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0027a0001c0001t0001g0042a0001c0001t0001g0043others(17): Show | 20 | 328 | 0.0610 | -10 | c.149 others(29): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 52875802 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01106.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0003t0003a0001c0007t0001others(6): Show | a0001c0001t0001g0052a0001c0003t0003g0074a0001c0003t0003g0132others(7): Show | 10 | 162 | 0.0617 | -10 | c.196 others(29): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 8/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 52943221 | TAAACAAA others(3): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG01261.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0016a0001c0001t0001g0017others(19): Show | 22 | 162 | 0.1358 | -10 | c.156 others(31): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 52999239 | GCTTTGAC others(3): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 162 | 0.0062 | -10 | c.156 others(31): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53052165 | CACTACCC others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG02647.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(2): Show | a0001c0001t0001g0070a0001c0001t0001g0075a0001c0001t0001g0077others(5): Show | 8 | 162 | 0.0494 | -10 | c.156 others(31): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53110041 | GGAACAGA others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00642.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0004a0001c0003t0003a0001c0004t0003others(12): Show | a0001c0001t0004g0109a0001c0003t0003g0064a0001c0004t0003g0051others(28): Show | 31 | 162 | 0.1914 | -10 | c.156 others(31): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53129218 | GAAAACAA others(3): Show |
G | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0065 | 1 | 162 | 0.0062 | -10 | c.156 others(31): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53188418 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0077 | 2 | 162 | 0.0124 | -10 | c.131 others(31): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53254805 | TTTTTATT others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01243.hp2 HG01884.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0081a0001c0001t0001g0123a0001c0001t0002g0047others(19): Show | 22 | 162 | 0.1358 | -10 | c.131 others(31): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53258538 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0003 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0077others(4): Show | 7 | 162 | 0.0432 | -10 | c.131 others(31): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53326133 | ATTTATTT others(3): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0003 | a0001c0001t0001g0108a0001c0001t0001g0119a0001c0001t0001g0121others(2): Show | 5 | 162 | 0.0309 | -10 | c.100 others(31): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
SCG3_chr15_51676503_51726026 | 51704240 | CATACATA others(3): Show |
C | intron_variant | MODIFIER | HG02965.hp1 NA20905.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0072a0001c0001t0007g0063a0001c0001t0007g0067 | 3 | 402 | 0.0075 | -10 | c.120 others(29): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51704764 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp2 HG01261.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0068a0001c0001t0001g0124a0001c0001t0001g0125others(44): Show | 47 | 402 | 0.1169 | -10 | c.120 others(29): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51709662 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01099.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0009 | a0001c0001t0003g0003a0001c0001t0003g0004a0001c0001t0003g0030others(5): Show | 10 | 402 | 0.0249 | -10 | c.120 others(29): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |