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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNTG1_chr8_49906407_50801692 | 50722134 | ATATGTAT others(23): Show |
A | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0008 | 1 | 106 | 0.0094 | -30 | c.128 others(51): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNX12_chrX_71054247_71073334 | 71071574 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0052 a0001c0001t0006g0064 |
2 | 231 | 0.0087 | -30 | c.-32 others(41): Show |
SNX12 | ENSG00000147164.12 | transcript | ENST00000374274.8 | protein_coding | 3241 | chrX | TogoVar | |||||||
SNX12_chrX_71054247_71073334 | 71071654 | ATTATATA others(23): Show |
A | upstream_gene_variant | MODIFIER | NA18947.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0049 |
2 | 307 | 0.0065 | -30 | c.-33 others(41): Show |
SNX12 | ENSG00000147164.12 | transcript | ENST00000374274.8 | protein_coding | 3321 | chrX | TogoVar | |||||||
SNX13_chr7_17785761_17945494 | 17801009 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 a0001c0001t0005g0013 |
2 | 14 | 0.1429 | -30 | c.229 others(47): Show |
SNX13 | ENSG00000071189.21 | transcript | ENST00000428135.7 | protein_coding | 22/25 | chr7 | TogoVar | |||||||
SNX16_chr8_81794583_81847185 | 81842525 | AAAGAGAA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01192.hp2 HG01257.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0206 a0001c0001t0002g0211 others(10): Show |
14 | 258 | 0.0543 | -30 | c.-53 others(39): Show |
SNX16 | ENSG00000104497.15 | transcript | ENST00000345957.9 | protein_coding | 341 | chr8 | TogoVar | |||||||
SNX25_chr4_185204598_185368966 | 185241511 | AGAGGGAG others(23): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 121 | 0.0083 | -30 | c.430 others(47): Show |
SNX25 | ENSG00000109762.17 | transcript | ENST00000652585.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SNX27_chr1_151607050_151704080 | 151641873 | TGATATAT others(23): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0102 | a0001c0001t0102g0016 | 1 | 362 | 0.0028 | -30 | c.543 others(47): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX27_chr1_151607050_151704080 | 151675409 | CATAGTTA others(23): Show |
C | intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0040 | 1 | 364 | 0.0027 | -30 | c.114 others(49): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 7/11 | chr1 | TogoVar | |||||||
SNX27_chr1_151607050_151704080 | 151676270 | ATTTTTTT others(23): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0164 | 1 | 2 | 0.5000 | -30 | c.115 others(49): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12380861 | CCCACCAT others(23): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0026 | 1 | 174 | 0.0057 | -30 | c.190 others(51): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12444051 | GTAAGCAC others(23): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02922.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0046a0001c0002t0089 | a0001c0001t0008g0008 a0001c0001t0046g0052 a0001c0002t0089g0011 |
3 | 174 | 0.0172 | -30 | c.203 others(51): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12444222 | TAGCATGT others(23): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0004 | a0001c0004t0090 | a0001c0004t0090g0102 | 1 | 174 | 0.0057 | -30 | c.203 others(51): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12444257 | CGTAGTAA others(23): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(111): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(87): Show | a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0127 others(111): Show |
114 | 174 | 0.6552 | -30 | c.203 others(51): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12512367 | AAAATATA others(23): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0059 | 1 | 127 | 0.0079 | -30 | c.217 others(51): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12575840 | GTTTTTTT others(23): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01981.hp1 HG02109.hp1 others(5): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0005c0019others(1): Show | a0001c0001t0044a0001c0001t0045a0001c0002t0018others(5): Show | a0001c0001t0044g0045 a0001c0001t0045g0155 a0001c0002t0018g0037 others(5): Show |
8 | 171 | 0.0468 | -30 | c.*72 others(41): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 1554 | chr16 | TogoVar | |||||||
SNX31_chr8_100567889_100654665 | 100639588 | GAATATAT others(23): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00544.hp1 others(173): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0013a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(38): Show | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0208 others(165): Show |
176 | 302 | 0.5828 | -30 | c.142 others(47): Show |
SNX31 | ENSG00000174226.9 | transcript | ENST00000311812.7 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
SNX6_chr14_34556093_34635148 | 34557496 | ATTCTTCT others(23): Show |
A | downstream_gene_variant | MODIFIER | HG02895.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0031 a0001c0001t0005g0033 |
2 | 69 | 0.0290 | -30 | c.*55 others(41): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3596 | chr14 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157949416 | GGAACATA others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 300 | 0.0033 | -30 | c.*65 others(41): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 4340 | chr6 | TogoVar | |||||||
SOBP_chr6_107485117_107666306 | 107656340 | AAAGAGAA others(23): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01175.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0009 a0001c0001t0001g0061 a0001c0001t0001g0118 others(31): Show |
34 | 294 | 0.1156 | -30 | c.*4- others(45): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOGA1_chr20_36772447_36868538 | 36858463 | AACACACA others(23): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0005 | a0005c0022 | a0005c0022t0015 | a0005c0022t0015g0276 | 1 | 180 | 0.0056 | -30 | c.687 others(47): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33577601 | CCCTACAC others(23): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0025 |
2 | 362 | 0.0055 | -30 | c.*11 others(41): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 121 | chr21 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33577604 | TACACACA others(23): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01884.hp2 others(16): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0014others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0014t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(13): Show |
19 | 77 | 0.2468 | -30 | c.*11 others(41): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 124 | chr21 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33577673 | ACACACAC others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0175 | 1 | 359 | 0.0028 | -30 | c.*12 others(41): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 193 | chr21 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185731856 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0025 | a0001c0025t0063 | a0001c0025t0063g0213 | 1 | 308 | 0.0032 | -30 | c.-41 others(47): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185781624 | CTCCCTTC others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(89): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0087 others(89): Show |
92 | 310 | 0.2968 | -30 | c.-23 others(49): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SORBS3_chr8_22546927_22580788 | 22579844 | TGGGAGGC others(23): Show |
T | downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 428 | 0.0023 | -30 | c.*51 others(41): Show |
SORBS3 | ENSG00000120896.14 | transcript | ENST00000240123.12 | protein_coding | 4057 | chr8 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106781911 | CTCAAATC others(23): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG02976.hp1 |
a0001a0005 | a0001c0002a0005c0010 | a0001c0002t0001a0005c0010t0001 | a0001c0002t0001g0041 a0005c0010t0001g0125 a0005c0010t0001g0126 |
3 | 130 | 0.0231 | -30 | c.727 others(47): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7362920 | CCATCACC others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(47): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(42): Show | a0001c0001t0004g0053 a0001c0001t0004g0098 a0001c0001t0006g0125 others(47): Show |
50 | 168 | 0.2976 | -30 | c.481 others(49): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7724736 | GTAGTAGT others(23): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 |
a0003a0008 | a0003c0013a0008c0056 | a0003c0013t0018a0008c0056t0018 | a0003c0013t0018g0100 a0008c0056t0018g0061 |
2 | 168 | 0.0119 | -30 | c.261 others(47): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104684779 | GTTTTTTT others(23): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01081.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0046 a0001c0001t0002g0082 a0001c0001t0002g0083 others(14): Show |
17 | 37 | 0.4595 | -30 | c.627 others(49): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104785154 | GGAAAAGA others(23): Show |
G | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 134 | 0.0075 | -30 | c.628 others(49): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104817446 | TTCTCCTT others(23): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01123.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0100 others(20): Show |
23 | 133 | 0.1729 | -30 | c.628 others(49): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORT1_chr1_109304575_109402918 | 109378699 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02280.hp2 others(3): Show |
a0001a0004 | a0001c0003a0004c0009 | a0001c0003t0005a0001c0003t0012a0004c0009t0008 | a0001c0003t0005g0023 a0001c0003t0005g0026 a0001c0003t0012g0153 others(3): Show |
6 | 24 | 0.2500 | -30 | c.307 others(47): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
SOS1_chr2_38976549_39126051 | 39122660 | AGTGTGTG others(23): Show |
A | upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0193 | 1 | 244 | 0.0041 | -30 | c.-22 others(41): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 1610 | chr2 | TogoVar | |||||||
SOWAHA_chr5_132808302_132821786 | 132814831 | CTGGTGGT others(23): Show |
C | conservative_inframe_deletion | MODERATE | NA19006.hp2 | a0011 | a0011c0010 | a0011c0010t0014 | a0011c0010t0014g0000 | 1 | 402 | 0.0025 | -30 | c.121 others(39): Show |
p.Val others(13): Show |
SOWAHA | ENSG00000198944.6 | transcript | ENST00000378693.4 | protein_coding | 1/1 | 1533/3485 | 1213/1650 | 405/549 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
SOX2_chr3_181706925_181719436 | 181715433 | GTTTTTTT others(23): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 7 | 0.2857 | -30 | c.*21 others(41): Show |
SOX2 | ENSG00000181449.4 | transcript | ENST00000325404.3 | protein_coding | 998 | chr3 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23726118 | CGAGAGAG others(23): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00639.hp2 others(102): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(74): Show | a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0166 others(102): Show |
105 | 119 | 0.8824 | -30 | c.810 others(47): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23804915 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0071 | 1 | 9 | 0.1111 | -30 | c.481 others(49): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16063496 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02273.hp2 HG03130.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0056 a0001c0001t0001g0205 a0001c0001t0006g0124 others(4): Show |
7 | 35 | 0.2000 | -30 | c.110 others(49): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 9/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16291229 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(146): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0056 others(146): Show |
149 | 150 | 0.9933 | -30 | c.445 others(49): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 3/15 | chr11 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230497534 | GAGGAGAG others(23): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01081.hp1 HG02040.hp1 others(11): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0017others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0018others(5): Show | a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0195 others(11): Show |
14 | 210 | 0.0667 | -30 | c.164 others(47): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230497539 | GAGGAGAG others(23): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01099.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0004 | a0001c0001t0002a0001c0001t0004a0002c0005t0001others(1): Show | a0001c0001t0002g0284 a0001c0001t0004g0017 a0001c0001t0004g0098 others(2): Show |
5 | 230 | 0.0217 | -30 | c.164 others(47): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230497544 | GAGGAAAG others(23): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01255.hp1 HG01358.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0151 a0003c0004t0002g0152 a0003c0004t0002g0163 others(1): Show |
4 | 146 | 0.0274 | -30 | c.164 others(47): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230510473 | CTTTTTTT others(23): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG02630.hp2 others(2): Show |
a0001a0002a0005 | a0001c0007a0002c0002a0005c0008 | a0001c0007t0005a0002c0002t0013a0005c0008t0005 | a0001c0007t0005g0030 a0001c0007t0005g0032 a0001c0007t0005g0033 others(2): Show |
5 | 6 | 0.8333 | -30 | c.205 others(47): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112383111 | AAAAGAAA others(23): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01261.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0343 a0001c0001t0001g0349 a0001c0001t0001g0350 others(17): Show |
20 | 247 | 0.0810 | -30 | c.94+ others(45): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213468431 | ATCTATGT others(23): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0081 | 1 | 86 | 0.0116 | -30 | c.943 others(49): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213728876 | CAAAAAAA others(23): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0026 | 1 | 15 | 0.0667 | -30 | c.107 others(53): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214170201 | TACACACA others(23): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 | 1 | 86 | 0.0116 | -30 | c.172 others(51): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214248287 | ATATTATT others(23): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG01496.hp2 HG01516.hp1 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0039 others(22): Show |
25 | 38 | 0.6579 | -30 | c.172 others(51): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG1_chr8_100153587_100246904 | 100214988 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | NA18950.hp1 NA19086.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0211 a0002c0001t0001g0014 |
2 | 67 | 0.0299 | -30 | c.153 others(49): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |