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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPECC1_chr17_20004359_20324026 | 20287423 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0183 | 1 | 20 | 0.0500 | -13 | c.294 others(32): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35773184 | CCTAAGCA others(6): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02451.hp2 HG02622.hp1 others(2): Show |
a0007 | a0007c0011a0007c0044 | a0007c0011t0001a0007c0044t0001 | a0007c0011t0001g0111 a0007c0011t0001g0112 a0007c0011t0001g0113 others(2): Show |
5 | 266 | 0.0188 | -13 | c.395 others(30): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219463392 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 38 | 0.0263 | -13 | c.270 others(32): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 8/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEN_chr1_15842707_15945456 | 15910124 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0023 | a0001c0023t0003 | a0001c0023t0003g0006 | 1 | 157 | 0.0064 | -13 | c.104 others(30): Show |
SPEN | ENSG00000065526.13 | transcript | ENST00000375759.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPG11_chr15_44557696_44668662 | 44573353 | GCATGTAT others(6): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02895.hp1 HG03486.hp1 |
a0007a0016 | a0007c0008a0016c0014 | a0007c0008t0001a0016c0014t0001 | a0007c0008t0001g0186 a0007c0008t0001g0187 a0016c0014t0001g0185 |
3 | 188 | 0.0160 | -13 | c.620 others(30): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 32/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44633324 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0109 | 1 | 27 | 0.0370 | -13 | c.173 others(30): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 8/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44636945 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | NA18986.hp2 NA18992.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112 a0002c0002t0001g0113 |
2 | 188 | 0.0106 | -13 | c.160 others(32): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 7/39 | chr15 | TogoVar | |||||||
SPG7_chr16_89503403_89562766 | 89557837 | GTTTCAGT others(6): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 356 | 0.0028 | -13 | c.*74 others(22): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 72 | chr16 | TogoVar | |||||||
SPHK2_chr19_48614506_48635405 | 48622757 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02809.hp2 NA18964.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0032 a0001c0002t0001g0032 |
2 | 306 | 0.0065 | -13 | c.39+ others(28): Show |
SPHK2 | ENSG00000063176.16 | transcript | ENST00000245222.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPHKAP_chr2_227974955_228186687 | 228012163 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18963.hp1 | a0005 | a0005c0004 | a0005c0004t0003 | a0005c0004t0003g0028 | 1 | 120 | 0.0083 | -13 | c.444 others(32): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 7/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228092567 | ATATATGT others(6): Show |
A | intron_variant | MODIFIER | HG01358.hp1 | a0005 | a0005c0004 | a0005c0004t0003 | a0005c0004t0003g0259 | 1 | 320 | 0.0031 | -13 | c.246 others(32): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPIB_chr19_50413938_50436314 | 50424384 | CGCCTGTA others(6): Show |
C | intron_variant | MODIFIER | NA18950.hp2 NA18952.hp1 NA19010.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0039 a0001c0003t0001g0077 |
3 | 369 | 0.0081 | -13 | c.490 others(28): Show |
SPIB | ENSG00000269404.7 | transcript | ENST00000595883.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPICE1_chr3_113437718_113520156 | 113454982 | CCCTTGTT others(6): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0266 a0001c0002t0003g0267 |
2 | 362 | 0.0055 | -13 | c.165 others(32): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 13/17 | chr3 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113458160 | GCTCCCTC others(6): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02257.hp1 HG03130.hp1 others(4): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0105 a0001c0001t0001g0151 a0001c0001t0001g0153 others(4): Show |
7 | 208 | 0.0337 | -13 | c.143 others(30): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 12/17 | chr3 | TogoVar | |||||||
SPIC_chr12_101470336_101491997 | 101479306 | AAAAAGAA others(6): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0064 others(5): Show |
9 | 352 | 0.0256 | -13 | c.98- others(26): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47368343 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0004 |
2 | 20 | 0.1000 | -13 | c.526 others(32): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47545107 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG03491.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0055 a0001c0001t0003g0003 |
2 | 214 | 0.0093 | -13 | c.109 others(34): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88436754 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0008 a0001c0001t0009g0009 |
2 | 42 | 0.0476 | -13 | c.52+ others(30): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88450464 | AGGTTTGA others(6): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02717.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0057 others(3): Show |
6 | 174 | 0.0345 | -13 | c.101 others(30): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPINDOC_chr11_63808456_63832716 | 63811010 | TAGTCCTA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG03492.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0167 |
2 | 390 | 0.0051 | -13 | c.-26 others(24): Show |
SPINDOC | ENSG00000168005.9 | transcript | ENST00000294244.9 | protein_coding | 2445 | chr11 | TogoVar | |||||||
SPINDOC_chr11_63808456_63832716 | 63832007 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 24 | 0.0417 | -13 | c.*48 others(24): Show |
SPINDOC | ENSG00000168005.9 | transcript | ENST00000294244.9 | protein_coding | 4292 | chr11 | TogoVar | |||||||
SPINK13_chr5_148263794_148291255 | 148289239 | TGAGATGC others(6): Show |
T | downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 374 | 0.0027 | -13 | c.*31 others(24): Show |
SPINK13 | ENSG00000214510.10 | transcript | ENST00000398450.5 | protein_coding | 2985 | chr5 | TogoVar | |||||||
SPINK13_chr5_148263794_148291255 | 148289272 | TTACCTGA others(6): Show |
T | downstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 374 | 0.0027 | -13 | c.*32 others(24): Show |
SPINK13 | ENSG00000214510.10 | transcript | ENST00000398450.5 | protein_coding | 3018 | chr5 | TogoVar | |||||||
SPINK1_chr5_147819582_147836671 | 147824312 | CTTAAAAT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 424 | 0.0024 | -13 | c.*33 others(22): Show |
SPINK1 | ENSG00000164266.11 | transcript | ENST00000296695.10 | protein_coding | 269 | chr5 | TogoVar | |||||||
SPINK2_chr4_56804861_56826701 | 56805163 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0190 | 1 | 19 | 0.0526 | -13 | c.*49 others(24): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 4697 | chr4 | TogoVar | |||||||
SPINK6_chr5_148198042_148220137 | 148202408 | AAAAAAAA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp2 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 a0002c0002t0002g0065 |
2 | 436 | 0.0046 | -13 | c.-68 others(22): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 633 | chr5 | TogoVar | |||||||
SPINT2_chr19_38259573_38297615 | 38259637 | ATATTTTT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 392 | 0.0026 | -13 | c.-52 others(24): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4935 | chr19 | TogoVar | |||||||
SPINT2_chr19_38259573_38297615 | 38259639 | ATTTTTTT others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18906.hp2 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0145 |
2 | 205 | 0.0098 | -13 | c.-52 others(24): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4933 | chr19 | TogoVar | |||||||
SPINT2_chr19_38259573_38297615 | 38261263 | GTTTTTTT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG02027.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0129 others(21): Show |
28 | 169 | 0.1657 | -13 | c.-36 others(24): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 3309 | chr19 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12457455 | GGGAGCCC others(6): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00609.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(3): Show | a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 others(72): Show |
75 | 326 | 0.2301 | -13 | c.163 others(32): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 12/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12476555 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0042 a0001c0001t0004g0049 a0001c0001t0004g0050 others(3): Show |
6 | 303 | 0.0198 | -13 | c.140 others(32): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 10/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12476557 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02145.hp1 HG02615.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0062 a0001c0001t0003g0270 a0001c0001t0003g0271 others(7): Show |
10 | 322 | 0.0311 | -13 | c.140 others(32): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 10/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12476559 | AAAAAAAT others(6): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG00741.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0145 others(19): Show |
22 | 324 | 0.0679 | -13 | c.140 others(32): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 10/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12476561 | AAAAATAT others(6): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279 a0001c0001t0003g0280 |
2 | 324 | 0.0062 | -13 | c.140 others(32): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 10/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12501072 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 116 | 0.0086 | -13 | c.973 others(30): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 6/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12549439 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01433.hp2 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 others(1): Show |
4 | 106 | 0.0377 | -13 | c.373 others(30): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPNS2_chr17_4493881_4544035 | 4540234 | ATGCGTGT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp1 HG02486.hp1 HG02486.hp2 others(8): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0003g0037 a0001c0001t0003g0237 a0001c0001t0004g0355 others(7): Show |
11 | 400 | 0.0275 | -13 | c.*27 others(24): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 1200 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4431440 | TGTATATC others(6): Show |
T | upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0259 | 1 | 360 | 0.0028 | -13 | c.-25 others(24): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 2499 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4455398 | CTGTGTCC others(6): Show |
C | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 360 | 0.0028 | -13 | c.111 others(32): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4472774 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01074.hp1 others(12): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0009others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0147 others(12): Show |
15 | 26 | 0.5769 | -13 | c.111 others(32): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPOCK1_chr5_136970298_137504326 | 137013208 | ATTTCTTT others(6): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02135.hp1 HG02451.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(9): Show | a0001c0001t0002g0112 a0001c0001t0003g0051 a0001c0001t0007g0039 others(12): Show |
15 | 152 | 0.0987 | -13 | c.590 others(32): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137143192 | AACTTGAG others(6): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01358.hp2 HG01515.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0019 a0001c0001t0001g0054 a0001c0001t0002g0136 others(26): Show |
29 | 152 | 0.1908 | -13 | c.233 others(30): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137160345 | TTATATTA others(6): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 152 | 0.0066 | -13 | c.233 others(32): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137292426 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01358.hp2 HG01516.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0078 others(21): Show |
24 | 27 | 0.8889 | -13 | c.187 others(32): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137293089 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0047 a0001c0001t0007g0046 |
2 | 9 | 0.2222 | -13 | c.187 others(32): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166878472 | AATGTATA others(6): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0012 a0001c0002t0005g0074 |
2 | 137 | 0.0146 | -13 | c.589 others(32): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 13990373 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02897.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0002 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0002t0001g0026 others(1): Show |
4 | 19 | 0.2105 | -13 | c.345 others(30): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14090823 | GGCCCCCC others(6): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01257.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0001t0001g0062 others(27): Show |
30 | 138 | 0.2174 | -13 | c.676 others(32): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 5/15 | chr11 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14113568 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01074.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0051 a0001c0001t0001g0060 others(30): Show |
33 | 34 | 0.9706 | -13 | c.677 others(32): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14160814 | TTATATAT others(6): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG02074.hp1 HG03130.hp2 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0003a0001c0003t0001a0001c0004t0001 | a0001c0001t0003g0179 a0001c0003t0001g0086 a0001c0004t0001g0067 |
3 | 213 | 0.0141 | -13 | c.825 others(32): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |