view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPESP1_chr15_68925525_68951811 | 68929493 | AATTTTT | A | upstream_gene_variant | MODIFIER | NA18952.hp1 NA18995.hp2 NA19005.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 4 | 402 | 0.0100 | -6 | c.-11 others(17): Show |
SPESP1 | ENSG00000258484.4 | transcript | ENST00000310673.4 | protein_coding | 1031 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44596660 | CAAAAAA | C | intron_variant | MODIFIER | HG02040.hp1 HG02155.hp1 HG02523.hp1 others(8): Show |
a0004a0020 | a0004c0004a0020c0025 | a0004c0004t0001a0020c0025t0001 | a0004c0004t0001g0149 a0004c0004t0001g0158 a0004c0004t0001g0164 others(8): Show |
11 | 190 | 0.0579 | -6 | c.416 others(23): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 24/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44639276 | TACACAC | T | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02572.hp1 others(16): Show |
a0002a0003a0006others(3): Show | a0002c0002a0003c0003a0006c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0003c0003t0001others(4): Show | a0002c0002t0001g0018 a0002c0002t0001g0176 a0002c0002t0001g0177 others(16): Show |
19 | 190 | 0.1000 | -6 | c.160 others(25): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 7/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44641586 | TACACAC | T | intron_variant | MODIFIER | HG02040.hp1 HG02055.hp1 HG02155.hp1 others(11): Show |
a0001a0004a0007others(1): Show | a0001c0001a0004c0004a0007c0008others(1): Show | a0001c0001t0001a0004c0004t0001a0007c0008t0001others(1): Show | a0001c0001t0001g0078 a0004c0004t0001g0149 a0004c0004t0001g0164 others(11): Show |
14 | 190 | 0.0737 | -6 | c.160 others(25): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 7/39 | chr15 | TogoVar | |||||||
SPG21_chr15_64958022_64994914 | 64966900 | AAAAAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(347): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(198): Show |
350 | 352 | 0.9943 | -6 | c.670 others(23): Show |
SPG21 | ENSG00000090487.11 | transcript | ENST00000204566.7 | protein_coding | 7/8 | chr15 | TogoVar | |||||||
SPHK1_chr17_76379609_76392855 | 76388567 | ACCGCCC | A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG03831.hp1 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0001 | 12 | 412 | 0.0291 | -6 | c.*98 others(15): Show |
SPHK1 | ENSG00000176170.14 | transcript | ENST00000592299.6 | protein_coding | 713 | chr17 | TogoVar | |||||||
SPHK1_chr17_76379609_76392855 | 76388640 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02622.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(2): Show |
8 | 412 | 0.0194 | -6 | c.*10 others(17): Show |
SPHK1 | ENSG00000176170.14 | transcript | ENST00000592299.6 | protein_coding | 786 | chr17 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228092410 | TATATAC | T | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 HG02895.hp1 others(6): Show |
a0001a0003a0008 | a0001c0001a0003c0005a0008c0008 | a0001c0001t0002a0003c0005t0006a0008c0008t0008 | a0001c0001t0002g0207 a0001c0001t0002g0319 a0003c0005t0006g0115 others(6): Show |
9 | 322 | 0.0280 | -6 | c.246 others(25): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228092446 | ATATATG | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp1 others(138): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0012others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(29): Show | a0001c0001t0001g0093 a0001c0001t0002g0031 a0001c0001t0002g0053 others(138): Show |
141 | 322 | 0.4379 | -6 | c.246 others(25): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228096630 | CTGTGTG | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00642.hp2 others(90): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0012others(14): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0014others(19): Show | a0001c0001t0002g0081 a0001c0001t0002g0120 a0002c0002t0001g0001 others(90): Show |
93 | 322 | 0.2888 | -6 | c.246 others(25): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228113603 | ATCTCTC | A | intron_variant | MODIFIER | HG01496.hp1 HG01934.hp1 HG02055.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0093 a0001c0001t0002g0091 a0001c0001t0002g0092 others(5): Show |
8 | 322 | 0.0248 | -6 | c.139 others(23): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
SPI1_chr11_47349860_47383547 | 47354547 | GTCATCA | G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00558.hp1 others(112): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0101 a0001c0001t0002g0004 a0001c0001t0002g0008 others(81): Show |
115 | 390 | 0.2949 | -6 | c.*67 others(15): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 312 | chr11 | TogoVar | |||||||
SPI1_chr11_47349860_47383547 | 47361906 | CTTTTAG | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(260): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(173): Show |
263 | 390 | 0.6744 | -6 | c.143 others(23): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
SPI1_chr11_47349860_47383547 | 47362570 | CTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0017 others(13): Show |
26 | 390 | 0.0667 | -6 | c.143 others(23): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
SPI1_chr11_47349860_47383547 | 47376968 | AGACAGT | A | intron_variant | MODIFIER | HG02818.hp1 HG03225.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 |
3 | 390 | 0.0077 | -6 | c.46- others(21): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SPIB_chr19_50413938_50436314 | 50417676 | CCCCCCA | C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01255.hp1 HG01943.hp1 others(45): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0030 others(24): Show |
48 | 388 | 0.1237 | -6 | c.-12 others(17): Show |
SPIB | ENSG00000269404.7 | transcript | ENST00000595883.6 | protein_coding | 1261 | chr19 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113467898 | CTAATTA | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00735.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0102 others(24): Show |
27 | 364 | 0.0742 | -6 | c.115 others(23): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 10/17 | chr3 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113486210 | CATATAT | C | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG00738.hp2 others(77): Show |
a0001a0005a0006others(1): Show | a0001c0002a0001c0004a0001c0012others(3): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0014others(6): Show | a0001c0002t0003g0007 a0001c0002t0003g0245 a0001c0002t0003g0246 others(76): Show |
80 | 364 | 0.2198 | -6 | c.611 others(23): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113486862 | GATATAT | G | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG00738.hp2 others(77): Show |
a0001a0005a0006others(1): Show | a0001c0002a0001c0004a0001c0012others(3): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0014others(6): Show | a0001c0002t0003g0007 a0001c0002t0003g0245 a0001c0002t0003g0246 others(76): Show |
80 | 364 | 0.2198 | -6 | c.611 others(23): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113504571 | CAAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG00738.hp2 others(60): Show |
a0001a0005a0008 | a0001c0002a0005c0009a0008c0018 | a0001c0002t0003a0001c0002t0014a0005c0009t0013others(1): Show | a0001c0002t0003g0007 a0001c0002t0003g0245 a0001c0002t0003g0246 others(59): Show |
63 | 364 | 0.1731 | -6 | c.100 others(23): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 2/17 | chr3 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113519716 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0029 others(16): Show |
19 | 364 | 0.0522 | -6 | c.-48 others(17): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 4561 | chr3 | TogoVar | |||||||
SPIC_chr12_101470336_101491997 | 101479236 | GAAAGAA | G | intron_variant | MODIFIER | HG00408.hp2 HG01070.hp1 HG01168.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0039 others(5): Show |
13 | 398 | 0.0327 | -6 | c.98- others(19): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPIC_chr12_101470336_101491997 | 101479256 | AGGAAGG | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0018 others(13): Show |
27 | 398 | 0.0678 | -6 | c.98- others(19): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 3/5 | chr12 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47368343 | CAAAAAA | C | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02895.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0046 a0001c0001t0002g0146 a0001c0001t0002g0149 others(3): Show |
6 | 216 | 0.0278 | -6 | c.526 others(25): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47386902 | GAGATAT | G | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp1 HG02129.hp2 others(4): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0006c0005t0001 | a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 others(4): Show |
7 | 216 | 0.0324 | -6 | c.526 others(23): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47464113 | TACACAC | T | intron_variant | MODIFIER | HG01192.hp1 HG03225.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0003g0001 others(1): Show |
4 | 216 | 0.0185 | -6 | c.109 others(27): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47466910 | TATATAG | T | intron_variant | MODIFIER | HG01192.hp1 HG03139.hp1 HG03491.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0002 | a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0011t0002g0139 |
3 | 216 | 0.0139 | -6 | c.109 others(27): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47466914 | TAGATAG | T | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02280.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002 | a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0151 others(13): Show |
16 | 216 | 0.0741 | -6 | c.109 others(27): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47493016 | GGAGAGA | G | intron_variant | MODIFIER | HG02622.hp1 HG02922.hp2 NA18983.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 others(3): Show |
6 | 216 | 0.0278 | -6 | c.109 others(27): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47493034 | AGAGAGT | A | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02109.hp2 others(24): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0008 | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(3): Show | a0001c0001t0002g0047 a0001c0001t0002g0138 a0001c0001t0002g0140 others(24): Show |
27 | 216 | 0.1250 | -6 | c.109 others(27): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47565988 | ATATATT | A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02886.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 others(9): Show |
12 | 216 | 0.0556 | -6 | c.109 others(27): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47582827 | TACACAC | T | intron_variant | MODIFIER | HG02559.hp1 HG03225.hp1 HG03704.hp2 others(1): Show |
a0001a0005a0007 | a0001c0001a0005c0006a0007c0009 | a0001c0001t0002a0001c0001t0004a0005c0006t0002others(1): Show | a0001c0001t0002g0185 a0001c0001t0004g0172 a0005c0006t0002g0014 others(1): Show |
4 | 216 | 0.0185 | -6 | c.109 others(27): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47588026 | CATATAT | C | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01192.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0051 a0001c0001t0001g0070 others(25): Show |
28 | 216 | 0.1296 | -6 | c.109 others(25): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47647616 | AAGAGAG | A | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01074.hp2 others(29): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0006 | a0001c0001t0001a0001c0001t0002a0004c0004t0002others(1): Show | a0001c0001t0001g0051 a0001c0001t0002g0016 a0001c0001t0002g0023 others(29): Show |
32 | 216 | 0.1482 | -6 | c.154 others(27): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47658544 | CTGTTGT | C | intron_variant | MODIFIER | HG00323.hp1 HG01192.hp1 HG01192.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0136 a0001c0001t0001g0175 a0001c0001t0001g0176 others(18): Show |
21 | 216 | 0.0972 | -6 | c.154 others(27): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47688016 | AGTGTGT | A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02886.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 others(9): Show |
12 | 216 | 0.0556 | -6 | c.168 others(27): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47702092 | CTCTCTT | C | intron_variant | MODIFIER | HG00438.hp1 HG01074.hp2 HG01081.hp2 others(22): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0051 a0001c0001t0002g0016 others(22): Show |
25 | 216 | 0.1157 | -6 | c.197 others(21): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | chr8 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47702093 | TCTCTTA | T | intron_variant | MODIFIER | HG00733.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 a0001c0001t0002g0144 |
2 | 216 | 0.0093 | -6 | c.197 others(21): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47702095 | TCTTACA | T | intron_variant | MODIFIER | HG01192.hp2 HG02622.hp2 HG03540.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0046 a0001c0001t0002g0134 a0003c0003t0002g0006 others(1): Show |
4 | 216 | 0.0185 | -6 | c.197 others(21): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88393445 | GTTTTTT | G | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01884.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0006 | a0001c0002t0004g0080 a0001c0002t0004g0082 a0001c0002t0004g0083 others(10): Show |
13 | 176 | 0.0739 | -6 | c.-15 others(25): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88405999 | GTGTGTC | G | intron_variant | MODIFIER | HG01099.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0146 a0001c0001t0003g0015 |
2 | 176 | 0.0114 | -6 | c.-15 others(27): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88413065 | GTTTTTT | G | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02486.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0015 | a0001c0002t0004g0080 a0001c0002t0004g0082 a0001c0002t0004g0083 others(6): Show |
9 | 176 | 0.0511 | -6 | c.-15 others(27): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88445518 | TTTATTA | T | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG01243.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0120 a0001c0001t0001g0146 a0001c0001t0002g0166 others(7): Show |
10 | 176 | 0.0568 | -6 | c.53- others(21): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN4_chrX_63342228_63356332 | 63355381 | ATTGATG | A | upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 298 | 0.0034 | -6 | c.-45 others(17): Show |
SPIN4 | ENSG00000186767.7 | transcript | ENST00000374884.3 | protein_coding | 4050 | chrX | TogoVar | |||||||
SPIN4_chrX_63342228_63356332 | 63356042 | AATATAT | A | upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 298 | 0.0034 | -6 | c.-52 others(17): Show |
SPIN4 | ENSG00000186767.7 | transcript | ENST00000374884.3 | protein_coding | 4711 | chrX | TogoVar | |||||||
SPINDOC_chr11_63808456_63832716 | 63810869 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00738.hp1 others(53): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 others(39): Show |
56 | 392 | 0.1429 | -6 | c.-28 others(17): Show |
SPINDOC | ENSG00000168005.9 | transcript | ENST00000294244.9 | protein_coding | 2586 | chr11 | TogoVar | |||||||
SPINK2_chr4_56804861_56826701 | 56817690 | CTAAAGA | C | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG00639.hp2 others(74): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0037 a0001c0001t0001g0075 a0001c0001t0001g0082 others(47): Show |
77 | 428 | 0.1799 | -6 | c.249 others(23): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
SPINK4_chr9_33235167_33253567 | 33241683 | GTTTGTT | G | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG00642.hp1 others(158): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0002a0002c0002t0002a0004c0004t0002 | a0001c0001t0002g0069 a0001c0001t0002g0074 a0002c0002t0002g0002 others(47): Show |
161 | 378 | 0.4259 | -6 | c.61+ others(21): Show |
SPINK4 | ENSG00000122711.9 | transcript | ENST00000379721.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPINK5_chr5_148058980_148142382 | 148062327 | ATGTGTG | A | upstream_gene_variant | MODIFIER | NA18939.hp1 NA18986.hp1 NA18995.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0001 a0003c0003t0002g0100 a0003c0003t0002g0101 |
6 | 384 | 0.0156 | -6 | c.-17 others(17): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 1652 | chr5 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148065545 | TCACACA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(309): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0024a0001c0039others(31): Show | a0001c0001t0001a0001c0024t0001a0001c0039t0001others(33): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0023 others(281): Show |
312 | 384 | 0.8125 | -6 | c.81+ others(19): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |