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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPECC1L_chr22_24265831_24422738 | 24366200 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(260): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(259): Show |
263 | 326 | 0.8068 | -1 | c.298 others(9): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24376816 | GT | G | intron_variant | MODIFIER | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(9): Show |
a0001a0008 | a0001c0001a0001c0008a0008c0012 | a0001c0001t0005a0001c0001t0015a0001c0008t0005others(1): Show | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(9): Show |
12 | 326 | 0.0368 | -1 | c.308 others(10): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24379390 | GA | G | intron_variant | MODIFIER | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0015a0001c0002t0002 | a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 others(6): Show |
9 | 326 | 0.0276 | -1 | c.308 others(11): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24382016 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(66): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0002a0001c0002t0010a0001c0002t0011others(6): Show | a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0005 others(65): Show |
69 | 326 | 0.2117 | -1 | c.308 others(11): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24382704 | CA | C | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(1): Show | a0001c0001t0001g0062 a0001c0001t0001g0223 a0001c0001t0001g0224 others(7): Show |
10 | 326 | 0.0307 | -1 | c.308 others(11): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24383792 | AT | A | intron_variant | MODIFIER | HG00544.hp2 HG02155.hp1 HG03195.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0221 others(9): Show |
12 | 326 | 0.0368 | -1 | c.308 others(11): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24386116 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(71): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0010others(7): Show | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(70): Show |
74 | 326 | 0.2270 | -1 | c.308 others(11): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24388336 | GT | G | intron_variant | MODIFIER | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(7): Show |
a0001a0008 | a0001c0001a0001c0008a0008c0012 | a0001c0001t0005a0001c0008t0005a0008c0012t0005 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(7): Show |
10 | 326 | 0.0307 | -1 | c.308 others(11): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24388788 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(186): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0289 a0001c0001t0002g0293 a0001c0001t0002g0294 others(185): Show |
189 | 326 | 0.5798 | -1 | c.308 others(11): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24390135 | TA | T | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG03139.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0222 a0001c0001t0002g0297 a0001c0001t0003g0156 others(4): Show |
7 | 326 | 0.0215 | -1 | c.308 others(11): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24390872 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00741.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(5): Show | a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 others(53): Show |
57 | 326 | 0.1749 | -1 | c.308 others(11): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24395538 | AG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(133): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0242 a0001c0001t0001g0289 a0001c0001t0002g0293 others(132): Show |
136 | 326 | 0.4172 | -1 | c.308 others(11): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24396295 | GT | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(179): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0242 a0001c0001t0001g0289 a0001c0001t0002g0293 others(178): Show |
182 | 326 | 0.5583 | -1 | c.308 others(11): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24405838 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(181): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0235 a0001c0001t0001g0283 a0001c0001t0001g0284 others(180): Show |
184 | 326 | 0.5644 | -1 | c.308 others(10): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24417894 | CT | C | downstream_gene_variant | MODIFIER | HG02976.hp2 NA18942.hp1 NA18955.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0003g0183 others(3): Show |
6 | 326 | 0.0184 | -1 | c.*32 others(6): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 157 | chr22 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20015584 | AT | A | intron_variant | MODIFIER | HG00323.hp1 HG02615.hp2 HG02976.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0008a0001c0010others(1): Show | a0001c0001t0002a0001c0008t0104a0001c0010t0100others(1): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0182 others(3): Show |
6 | 250 | 0.0240 | -1 | c.-22 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20016056 | AT | A | intron_variant | MODIFIER | NA18942.hp2 NA18975.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0015 | a0001c0001t0004g0109 a0001c0001t0010g0107 a0001c0001t0015g0108 |
3 | 250 | 0.0120 | -1 | c.-22 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20016217 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(100): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0030others(44): Show | a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0244 others(100): Show |
103 | 250 | 0.4120 | -1 | c.-22 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20021697 | TA | T | intron_variant | MODIFIER | HG01934.hp1 HG02647.hp1 HG02809.hp1 others(7): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0004others(1): Show | a0001c0003t0017a0001c0003t0035a0001c0003t0039others(7): Show | a0001c0003t0017g0208 a0001c0003t0035g0243 a0001c0003t0039g0207 others(7): Show |
10 | 250 | 0.0400 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20021699 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00642.hp1 others(33): Show |
a0001a0002a0003 | a0001c0003a0001c0006a0002c0002others(1): Show | a0001c0003t0007a0001c0003t0049a0001c0006t0022others(10): Show | a0001c0003t0007g0204 a0001c0003t0007g0205 a0001c0003t0049g0011 others(33): Show |
36 | 250 | 0.1440 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20021701 | TA | T | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01070.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0041a0001c0006t0052a0002c0002t0001 | a0001c0001t0041g0024 a0001c0006t0052g0014 a0002c0002t0001g0013 others(8): Show |
11 | 250 | 0.0440 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20026956 | TG | T | intron_variant | MODIFIER | HG00408.hp2 HG02080.hp1 HG02083.hp1 others(34): Show |
a0001a0003a0004 | a0001c0003a0003c0004a0004c0005others(1): Show | a0001c0003t0007a0001c0003t0017a0001c0003t0018others(23): Show | a0001c0003t0007g0204 a0001c0003t0007g0205 a0001c0003t0007g0212 others(34): Show |
37 | 250 | 0.1480 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20028760 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(104): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0004a0001c0001t0041a0001c0001t0073others(45): Show | a0001c0001t0004g0172 a0001c0001t0041g0024 a0001c0001t0073g0122 others(104): Show |
107 | 250 | 0.4280 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20029184 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01099.hp2 others(29): Show |
a0003 | a0003c0004a0003c0007a0003c0012others(1): Show | a0003c0004t0003a0003c0004t0011a0003c0004t0016others(10): Show | a0003c0004t0003g0008 a0003c0004t0003g0072 a0003c0004t0003g0079 others(29): Show |
32 | 250 | 0.1280 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20032146 | CT | C | intron_variant | MODIFIER | HG02145.hp1 HG02647.hp1 HG02647.hp2 others(14): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0007a0001c0003t0017a0001c0003t0018others(11): Show | a0001c0003t0007g0204 a0001c0003t0007g0205 a0001c0003t0007g0212 others(14): Show |
17 | 250 | 0.0680 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20032968 | AT | A | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02615.hp2 others(2): Show |
a0001a0003 | a0001c0010a0003c0004 | a0001c0010t0099a0001c0010t0100a0003c0004t0029others(1): Show | a0001c0010t0099g0173 a0001c0010t0100g0102 a0003c0004t0029g0191 others(2): Show |
5 | 250 | 0.0200 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20034095 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(103): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0041a0001c0003t0007a0001c0003t0012others(46): Show | a0001c0001t0041g0024 a0001c0003t0007g0057 a0001c0003t0007g0059 others(103): Show |
106 | 250 | 0.4240 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20034605 | CT | C | intron_variant | MODIFIER | HG01943.hp2 HG02145.hp1 HG02258.hp1 others(25): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(21): Show | a0001c0001t0002g0244 a0001c0001t0006g0157 a0001c0001t0010g0151 others(25): Show |
28 | 250 | 0.1120 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20037488 | CT | C | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01934.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0012 | a0001c0001t0002a0001c0001t0013a0001c0001t0090others(4): Show | a0001c0001t0002g0201 a0001c0001t0013g0152 a0001c0001t0090g0161 others(5): Show |
8 | 250 | 0.0320 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20038403 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(124): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(61): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(124): Show |
127 | 250 | 0.5080 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20041620 | CT | C | intron_variant | MODIFIER | HG01081.hp1 HG01261.hp2 HG02145.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0092others(4): Show | a0001c0001t0004g0007 a0001c0001t0006g0005 a0001c0001t0092g0004 others(5): Show |
8 | 250 | 0.0320 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20046012 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(58): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0004a0001c0001t0041a0001c0003t0007others(20): Show | a0001c0001t0004g0172 a0001c0001t0041g0024 a0001c0003t0007g0057 others(58): Show |
61 | 250 | 0.2440 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20047605 | CT | C | intron_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG01934.hp2 others(7): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0111 a0001c0001t0002g0244 a0001c0001t0002g0246 others(7): Show |
10 | 250 | 0.0400 | -1 | c.-22 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20055264 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(140): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0041a0001c0003t0007a0001c0003t0012others(62): Show | a0001c0001t0041g0024 a0001c0003t0007g0057 a0001c0003t0007g0059 others(140): Show |
143 | 250 | 0.5720 | -1 | c.-21 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20057657 | AT | A | intron_variant | MODIFIER | HG00408.hp2 HG01952.hp1 HG01993.hp2 others(31): Show |
a0001a0004 | a0001c0003a0004c0005a0004c0015 | a0001c0003t0007a0001c0003t0017a0001c0003t0018others(20): Show | a0001c0003t0007g0204 a0001c0003t0007g0205 a0001c0003t0007g0212 others(31): Show |
34 | 250 | 0.1360 | -1 | c.-21 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20058835 | CT | C | intron_variant | MODIFIER | HG00408.hp2 HG01515.hp2 HG01517.hp2 others(54): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0026a0001c0003t0007a0001c0003t0012others(29): Show | a0001c0001t0026g0186 a0001c0003t0007g0057 a0001c0003t0007g0059 others(54): Show |
57 | 250 | 0.2280 | -1 | c.-21 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20058991 | CA | C | intron_variant | MODIFIER | HG03098.hp2 HG03540.hp1 NA21309.hp1 |
a0001 | a0001c0003 | a0001c0003t0070a0001c0003t0071a0001c0003t0072 | a0001c0003t0070g0053 a0001c0003t0071g0054 a0001c0003t0072g0042 |
3 | 250 | 0.0120 | -1 | c.-21 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20060520 | CA | C | intron_variant | MODIFIER | HG00408.hp2 HG01952.hp1 HG01993.hp2 others(32): Show |
a0001a0004 | a0001c0003a0004c0005a0004c0015 | a0001c0003t0007a0001c0003t0017a0001c0003t0018others(21): Show | a0001c0003t0007g0204 a0001c0003t0007g0205 a0001c0003t0007g0212 others(32): Show |
35 | 250 | 0.1400 | -1 | c.-21 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20062253 | CA | C | intron_variant | MODIFIER | HG01123.hp2 HG01515.hp2 HG01517.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0004a0001c0001t0093a0002c0002t0005others(4): Show | a0001c0001t0004g0245 a0001c0001t0093g0101 a0002c0002t0005g0001 others(12): Show |
15 | 250 | 0.0600 | -1 | c.-21 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20062692 | AT | A | intron_variant | MODIFIER | HG00408.hp2 HG01952.hp1 HG01993.hp2 others(35): Show |
a0001a0004 | a0001c0003a0001c0006a0004c0005others(1): Show | a0001c0003t0007a0001c0003t0017a0001c0003t0018others(24): Show | a0001c0003t0007g0204 a0001c0003t0007g0205 a0001c0003t0007g0212 others(35): Show |
38 | 250 | 0.1520 | -1 | c.-21 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20066911 | AT | A | intron_variant | MODIFIER | HG00323.hp1 HG01168.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0079others(6): Show | a0001c0001t0002g0182 a0001c0001t0004g0109 a0001c0001t0079g0119 others(7): Show |
10 | 250 | 0.0400 | -1 | c.-21 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20075105 | GT | G | intron_variant | MODIFIER | HG01123.hp2 HG01515.hp2 HG01517.hp2 others(21): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0002 | a0001c0003t0007a0001c0003t0012a0001c0003t0017others(9): Show | a0001c0003t0007g0057 a0001c0003t0007g0059 a0001c0003t0007g0062 others(21): Show |
24 | 250 | 0.0960 | -1 | c.-21 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20085794 | CG | C | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01099.hp2 others(43): Show |
a0001a0003 | a0001c0003a0003c0004a0003c0007others(2): Show | a0001c0003t0021a0001c0003t0055a0001c0003t0060others(21): Show | a0001c0003t0021g0194 a0001c0003t0021g0198 a0001c0003t0055g0196 others(43): Show |
46 | 250 | 0.1840 | -1 | c.-21 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20086250 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(135): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0041a0001c0003t0007a0001c0003t0012others(57): Show | a0001c0001t0041g0024 a0001c0003t0007g0057 a0001c0003t0007g0059 others(135): Show |
138 | 250 | 0.5520 | -1 | c.-21 others(10): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20089464 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(135): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0041a0001c0003t0007a0001c0003t0012others(57): Show | a0001c0001t0041g0024 a0001c0003t0007g0057 a0001c0003t0007g0059 others(135): Show |
138 | 250 | 0.5520 | -1 | c.-21 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20090591 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(138): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0030a0001c0001t0041a0001c0003t0007others(62): Show | a0001c0001t0030g0181 a0001c0001t0041g0024 a0001c0003t0007g0057 others(138): Show |
141 | 250 | 0.5640 | -1 | c.-21 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20093733 | GT | G | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006a0001c0010others(1): Show | a0001c0001t0074a0001c0006t0022a0001c0006t0044others(6): Show | a0001c0001t0074g0130 a0001c0006t0022g0068 a0001c0006t0022g0070 others(7): Show |
10 | 250 | 0.0400 | -1 | c.-21 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20094678 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(114): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 others(235): Show |
238 | 250 | 0.9520 | -1 | c.-21 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20099511 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG02074.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0004a0001c0001t0006a0001c0001t0082others(3): Show | a0001c0001t0004g0121 a0001c0001t0006g0118 a0001c0001t0082g0153 others(3): Show |
6 | 250 | 0.0240 | -1 | c.147 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20099694 | CA | C | intron_variant | MODIFIER | HG01517.hp1 HG02486.hp1 HG02523.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0004a0001c0001t0028a0001c0001t0030others(4): Show | a0001c0001t0004g0165 a0001c0001t0028g0148 a0001c0001t0030g0178 others(5): Show |
8 | 250 | 0.0320 | -1 | c.147 others(9): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |