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 | 20288771 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01069.hp1 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(33): Show | a0001c0001t0002g0105 a0001c0001t0004g0113 a0001c0001t0014g0176 others(44): Show |
47 | 250 | 0.1880 | -1 | c.294 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20298976 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(69): Show |
a0001a0003 | a0001c0001a0001c0008a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(32): Show | a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0001t0002g0111 others(69): Show |
72 | 250 | 0.2880 | -1 | c.305 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 13/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20299555 | CA | C | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01993.hp2 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0025a0001c0001t0026a0001c0001t0027others(12): Show | a0001c0001t0025g0158 a0001c0001t0026g0186 a0001c0001t0027g0185 others(13): Show |
16 | 250 | 0.0640 | -1 | c.305 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20301409 | AT | A | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp1 HG02523.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0003t0012a0001c0003t0021others(10): Show | a0001c0001t0002g0106 a0001c0003t0012g0063 a0001c0003t0021g0194 others(11): Show |
14 | 250 | 0.0560 | -1 | c.305 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20302878 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00741.hp2 others(66): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(39): Show | a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0168 others(66): Show |
69 | 250 | 0.2760 | -1 | c.305 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20303163 | CT | C | intron_variant | MODIFIER | HG01952.hp1 HG01993.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0033a0001c0003t0050a0001c0003t0051others(1): Show | a0001c0003t0033g0146 a0001c0003t0033g0164 a0001c0003t0050g0209 others(2): Show |
5 | 250 | 0.0200 | -1 | c.305 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20304117 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp2 others(71): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(39): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(71): Show |
74 | 250 | 0.2960 | -1 | c.305 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20309815 | CT | C | intron_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG01256.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(10): Show | a0001c0001t0002g0169 a0001c0001t0002g0244 a0001c0001t0002g0246 others(15): Show |
18 | 250 | 0.0720 | -1 | c.311 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20311097 | TG | T | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG01069.hp1 others(82): Show |
a0001 | a0001c0001a0001c0008a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(39): Show | a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0111 others(82): Show |
85 | 250 | 0.3400 | -1 | c.311 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20311101 | GT | G | intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02486.hp2 others(4): Show |
a0001a0003 | a0001c0006a0001c0016a0003c0004 | a0001c0006t0022a0001c0006t0045a0001c0006t0091others(4): Show | a0001c0006t0022g0070 a0001c0006t0045g0071 a0001c0006t0091g0193 others(4): Show |
7 | 250 | 0.0280 | -1 | c.311 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20315013 | AC | A | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG02080.hp1 HG02083.hp1 others(18): Show |
a0004 | a0004c0005a0004c0015 | a0004c0005t0008a0004c0005t0009a0004c0005t0023others(10): Show | a0004c0005t0008g0227 a0004c0005t0008g0228 a0004c0005t0008g0229 others(18): Show |
21 | 250 | 0.0840 | -1 | c.*95 others(5): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 15/15 | 950 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20316228 | AT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01099.hp2 others(36): Show |
a0003 | a0003c0004a0003c0007a0003c0012others(1): Show | a0003c0004t0003a0003c0004t0011a0003c0004t0016others(15): Show | a0003c0004t0003g0008 a0003c0004t0003g0072 a0003c0004t0003g0079 others(36): Show |
39 | 250 | 0.1560 | -1 | c.*21 others(6): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 15/15 | 2164 | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20316703 | GT | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(209): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(13): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(109): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(209): Show |
212 | 250 | 0.8480 | -1 | c.*26 others(6): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 15/15 | 2649 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20317055 | AT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(165): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0008others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(84): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(165): Show |
168 | 250 | 0.6720 | -1 | c.*30 others(6): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 15/15 | 3004 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20319414 | GT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(88): Show |
a0001 | a0001c0001a0001c0008a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(39): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(88): Show |
91 | 250 | 0.3640 | -1 | c.*53 others(6): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 389 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20321822 | CA | C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01123.hp2 HG01515.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005a0002c0002t0068others(1): Show | a0002c0002t0001g0026 a0002c0002t0005g0001 a0002c0002t0005g0043 others(9): Show |
12 | 250 | 0.0480 | -1 | c.*77 others(6): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 2797 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20322186 | CA | C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG01934.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0248 others(7): Show |
10 | 250 | 0.0400 | -1 | c.*81 others(6): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3161 | chr17 | TogoVar | |||||||
SPEF1_chr20_3772504_3786448 | 3774054 | CA | C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01256.hp1 HG01516.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0038 others(8): Show |
21 | 418 | 0.0502 | -1 | c.*41 others(6): Show |
SPEF1 | ENSG00000101222.12 | transcript | ENST00000379756.3 | protein_coding | 3449 | chr20 | TogoVar | |||||||
SPEF1_chr20_3772504_3786448 | 3774366 | TA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(34): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0004a0003c0004t0004 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0017 others(6): Show |
37 | 418 | 0.0885 | -1 | c.*38 others(6): Show |
SPEF1 | ENSG00000101222.12 | transcript | ENST00000379756.3 | protein_coding | 3137 | chr20 | TogoVar | |||||||
SPEF1_chr20_3772504_3786448 | 3780334 | CA | C | intron_variant | MODIFIER | HG01106.hp1 HG02602.hp1 HG02630.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0004g0050 others(3): Show |
16 | 418 | 0.0383 | -1 | c.110 others(8): Show |
SPEF1 | ENSG00000101222.12 | transcript | ENST00000379756.3 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
SPEF1_chr20_3772504_3786448 | 3782370 | CA | C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01074.hp2 HG01256.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(4): Show |
11 | 418 | 0.0263 | -1 | c.-10 others(6): Show |
SPEF1 | ENSG00000101222.12 | transcript | ENST00000379756.3 | protein_coding | 923 | chr20 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35614363 | CA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(41): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0002c0001others(9): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(9): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0003t0001g0003 others(41): Show |
44 | 268 | 0.1642 | -1 | c.-36 others(6): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 3499 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35617363 | CT | C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp2 others(7): Show |
a0001a0004a0007others(1): Show | a0001c0003a0004c0005a0007c0016others(1): Show | a0001c0003t0001a0004c0005t0001a0007c0016t0001others(1): Show | a0001c0003t0001g0157 a0001c0003t0001g0160 a0004c0005t0001g0125 others(7): Show |
10 | 268 | 0.0373 | -1 | c.-63 others(5): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 499 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35617523 | GA | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(69): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0003a0002c0001others(20): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(20): Show | a0001c0002t0001g0067 a0001c0002t0001g0195 a0001c0002t0001g0196 others(69): Show |
72 | 268 | 0.2687 | -1 | c.-47 others(5): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 339 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35618878 | TC | T | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 NA19240.hp2 |
a0023a0030a0043 | a0023c0028a0030c0027a0043c0026 | a0023c0028t0001a0030c0027t0001a0043c0026t0001 | a0023c0028t0001g0190 a0030c0027t0001g0192 a0043c0026t0001g0191 |
3 | 268 | 0.0112 | -1 | c.58+ others(7): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 1/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35626580 | AC | A | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp1 HG03041.hp1 |
a0005a0014 | a0005c0006a0014c0019 | a0005c0006t0001a0014c0019t0001 | a0005c0006t0001g0104 a0005c0006t0001g0106 a0014c0019t0001g0105 |
3 | 268 | 0.0112 | -1 | c.59- others(8): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35628189 | TA | T | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp2 others(6): Show |
a0001a0007a0020others(3): Show | a0001c0003a0007c0016a0020c0053others(3): Show | a0001c0003t0001a0007c0016t0001a0020c0053t0001others(3): Show | a0001c0003t0001g0157 a0001c0003t0001g0160 a0007c0016t0001g0156 others(6): Show |
9 | 268 | 0.0336 | -1 | c.59- others(7): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35629151 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG01081.hp2 others(38): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0002c0001others(7): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(7): Show | a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0091 others(38): Show |
41 | 268 | 0.1530 | -1 | c.161 others(8): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35629413 | TC | T | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02922.hp2 others(1): Show |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0165 a0008c0009t0001g0166 a0008c0009t0001g0167 others(1): Show |
4 | 268 | 0.0149 | -1 | c.161 others(8): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35634083 | GT | G | intron_variant | MODIFIER | HG01884.hp1 HG03098.hp1 HG03453.hp2 others(1): Show |
a0001a0004 | a0001c0003a0004c0012 | a0001c0003t0001a0004c0012t0001 | a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0264 others(1): Show |
4 | 268 | 0.0149 | -1 | c.161 others(9): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35635389 | TG | T | intron_variant | MODIFIER | HG01884.hp1 HG03098.hp1 HG03453.hp2 others(1): Show |
a0001a0004 | a0001c0003a0004c0012 | a0001c0003t0001a0004c0012t0001 | a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0264 others(1): Show |
4 | 268 | 0.0149 | -1 | c.162 others(9): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35636975 | CA | C | intron_variant | MODIFIER | HG00438.hp1 HG01074.hp2 HG01884.hp1 others(3): Show |
a0001a0003a0009others(1): Show | a0001c0003a0003c0050a0009c0010others(1): Show | a0001c0003t0001a0003c0050t0001a0009c0010t0001others(1): Show | a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0264 others(3): Show |
6 | 268 | 0.0224 | -1 | c.162 others(9): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35639664 | GT | G | intron_variant | MODIFIER | HG00558.hp2 HG01071.hp1 HG01109.hp1 others(38): Show |
a0001a0003a0004others(4): Show | a0001c0002a0003c0004a0004c0005others(4): Show | a0001c0002t0001a0003c0004t0001a0004c0005t0001others(4): Show | a0001c0002t0001g0199 a0003c0004t0001g0004 a0003c0004t0001g0005 others(38): Show |
41 | 268 | 0.1530 | -1 | c.162 others(9): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35645103 | CT | C | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 NA19240.hp2 |
a0023a0030a0043 | a0023c0028a0030c0027a0043c0026 | a0023c0028t0001a0030c0027t0001a0043c0026t0001 | a0023c0028t0001g0190 a0030c0027t0001g0192 a0043c0026t0001g0191 |
3 | 268 | 0.0112 | -1 | c.585 others(8): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35645304 | AG | A | intron_variant | MODIFIER | HG01071.hp1 HG01433.hp2 HG02148.hp2 others(1): Show |
a0003a0004 | a0003c0004a0004c0005 | a0003c0004t0001a0004c0005t0001 | a0003c0004t0001g0246 a0004c0005t0001g0205 a0004c0005t0001g0206 others(1): Show |
4 | 268 | 0.0149 | -1 | c.585 others(8): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35647070 | AG | A | intron_variant | MODIFIER | HG00558.hp2 HG01071.hp1 HG01109.hp1 others(37): Show |
a0003a0004a0005others(3): Show | a0003c0004a0004c0005a0005c0006others(3): Show | a0003c0004t0001a0004c0005t0001a0005c0006t0001others(3): Show | a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0006 others(37): Show |
40 | 268 | 0.1493 | -1 | c.726 others(8): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 5/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35647725 | CT | C | intron_variant | MODIFIER | HG01099.hp1 HG02451.hp2 HG02622.hp1 others(3): Show |
a0004a0007 | a0004c0012a0007c0011a0007c0044 | a0004c0012t0001a0007c0011t0001a0007c0044t0001 | a0004c0012t0001g0145 a0007c0011t0001g0142 a0007c0011t0001g0143 others(3): Show |
6 | 268 | 0.0224 | -1 | c.726 others(8): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 5/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35653946 | CA | C | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01192.hp2 others(41): Show |
a0001a0002a0004others(11): Show | a0001c0003a0002c0001a0002c0041others(14): Show | a0001c0003t0001a0002c0001t0001a0002c0041t0001others(14): Show | a0001c0003t0001g0035 a0002c0001t0001g0148 a0002c0001t0001g0149 others(38): Show |
44 | 268 | 0.1642 | -1 | c.792 others(8): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 6/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35658584 | AT | A | intron_variant | MODIFIER | HG00558.hp2 HG01071.hp1 HG01109.hp1 others(37): Show |
a0003a0004a0005others(3): Show | a0003c0004a0004c0005a0005c0006others(3): Show | a0003c0004t0001a0004c0005t0001a0005c0006t0001others(3): Show | a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0006 others(37): Show |
40 | 268 | 0.1493 | -1 | c.979 others(8): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35664278 | GA | G | intron_variant | MODIFIER | HG01099.hp1 HG02451.hp2 HG02622.hp1 others(6): Show |
a0001a0004a0007 | a0001c0002a0004c0012a0007c0011others(1): Show | a0001c0002t0001a0004c0012t0001a0007c0011t0001others(1): Show | a0001c0002t0001g0045 a0001c0002t0001g0085 a0001c0002t0001g0086 others(6): Show |
9 | 268 | 0.0336 | -1 | c.116 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35674337 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(81): Show |
a0001a0003a0004others(10): Show | a0001c0002a0001c0003a0003c0004others(14): Show | a0001c0002t0001a0001c0003t0001a0003c0004t0001others(14): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0049 others(81): Show |
84 | 268 | 0.3134 | -1 | c.152 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35675529 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(74): Show |
a0001a0003a0004others(10): Show | a0001c0002a0003c0004a0003c0022others(13): Show | a0001c0002t0001a0003c0004t0001a0003c0022t0001others(13): Show | a0001c0002t0001g0062 a0003c0004t0001g0004 a0003c0004t0001g0005 others(74): Show |
77 | 268 | 0.2873 | -1 | c.152 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35685861 | CA | C | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG02723.hp1 others(10): Show |
a0002a0003a0004others(3): Show | a0002c0001a0003c0004a0004c0005others(3): Show | a0002c0001t0001a0003c0004t0001a0004c0005t0001others(3): Show | a0002c0001t0001g0215 a0003c0004t0001g0004 a0003c0004t0001g0005 others(10): Show |
13 | 268 | 0.0485 | -1 | c.152 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35694385 | TC | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(72): Show |
a0002a0005a0006others(11): Show | a0002c0001a0002c0041a0005c0006others(12): Show | a0002c0001t0001a0002c0041t0001a0005c0006t0001others(12): Show | a0002c0001t0001g0002 a0002c0001t0001g0010 a0002c0001t0001g0011 others(68): Show |
75 | 268 | 0.2799 | -1 | c.197 others(8): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 13/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35695856 | GT | G | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG02886.hp1 others(2): Show |
a0005a0023a0030others(1): Show | a0005c0006a0023c0028a0030c0027others(1): Show | a0005c0006t0001a0023c0028t0001a0030c0027t0001others(1): Show | a0005c0006t0001g0104 a0005c0006t0001g0106 a0023c0028t0001g0190 others(2): Show |
5 | 268 | 0.0187 | -1 | c.203 others(8): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35702110 | GA | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(96): Show |
a0001a0004a0006others(10): Show | a0001c0002a0001c0003a0004c0012others(14): Show | a0001c0002t0001a0001c0003t0001a0004c0012t0001others(14): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0020 others(96): Show |
99 | 268 | 0.3694 | -1 | c.239 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 16/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35703113 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(108): Show |
a0001a0004a0006others(15): Show | a0001c0002a0001c0003a0004c0012others(20): Show | a0001c0002t0001a0001c0003t0001a0004c0012t0001others(20): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0020 others(108): Show |
111 | 268 | 0.4142 | -1 | c.239 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 16/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35703250 | TA | T | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02922.hp2 others(2): Show |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0165 a0008c0009t0001g0166 a0008c0009t0001g0167 others(2): Show |
5 | 268 | 0.0187 | -1 | c.239 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 16/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35705987 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(188): Show |
a0001a0002a0004others(30): Show | a0001c0002a0001c0003a0002c0001others(39): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(39): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0020 others(184): Show |
191 | 268 | 0.7127 | -1 | c.266 others(9): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35710363 | CG | C | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp2 others(14): Show |
a0007a0008a0014others(2): Show | a0007c0011a0007c0016a0007c0044others(4): Show | a0007c0011t0001a0007c0016t0001a0007c0044t0001others(4): Show | a0007c0011t0001g0142 a0007c0011t0001g0143 a0007c0011t0001g0144 others(14): Show |
17 | 268 | 0.0634 | -1 | c.283 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 19/36 | chr5 | TogoVar |