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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPEF2_chr5_35612863_35819611 | 35711355 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(180): Show |
a0001a0002a0004others(24): Show | a0001c0002a0001c0003a0002c0001others(32): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(32): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0020 others(179): Show |
183 | 268 | 0.6828 | -1 | c.284 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35715282 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(180): Show |
a0001a0002a0004others(24): Show | a0001c0002a0001c0003a0002c0001others(32): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(32): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0020 others(179): Show |
183 | 268 | 0.6828 | -1 | c.291 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35719628 | CT | C | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG02451.hp2 others(6): Show |
a0001a0007a0014others(1): Show | a0001c0002a0007c0011a0007c0044others(2): Show | a0001c0002t0001a0007c0011t0001a0007c0044t0001others(2): Show | a0001c0002t0001g0196 a0007c0011t0001g0142 a0007c0011t0001g0143 others(6): Show |
9 | 268 | 0.0336 | -1 | c.291 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35722094 | GA | G | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp2 others(7): Show |
a0007a0008a0020others(1): Show | a0007c0016a0008c0009a0020c0053others(1): Show | a0007c0016t0001a0008c0009t0001a0020c0053t0001others(1): Show | a0007c0016t0001g0156 a0007c0016t0001g0158 a0007c0016t0001g0159 others(7): Show |
10 | 268 | 0.0373 | -1 | c.291 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35722455 | GT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(168): Show |
a0001a0002a0004others(22): Show | a0001c0002a0001c0003a0002c0001others(29): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(29): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0020 others(167): Show |
171 | 268 | 0.6381 | -1 | c.291 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35722480 | GT | G | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp2 others(6): Show |
a0007a0008a0020 | a0007c0016a0008c0009a0020c0053 | a0007c0016t0001a0008c0009t0001a0020c0053t0001 | a0007c0016t0001g0156 a0007c0016t0001g0158 a0007c0016t0001g0159 others(6): Show |
9 | 268 | 0.0336 | -1 | c.291 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35722585 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(178): Show |
a0001a0002a0004others(24): Show | a0001c0002a0001c0003a0002c0001others(32): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(32): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0020 others(177): Show |
181 | 268 | 0.6754 | -1 | c.291 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35733123 | GT | G | intron_variant | MODIFIER | HG01884.hp1 HG02647.hp2 HG02809.hp1 others(2): Show |
a0001a0004a0030 | a0001c0003a0004c0012a0030c0027 | a0001c0003t0001a0004c0012t0001a0030c0027t0001 | a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0264 others(2): Show |
5 | 268 | 0.0187 | -1 | c.306 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35733788 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(82): Show |
a0001a0003a0005others(16): Show | a0001c0002a0003c0004a0003c0022others(20): Show | a0001c0002t0001a0003c0004t0001a0003c0022t0001others(20): Show | a0001c0002t0001g0008 a0001c0002t0001g0195 a0001c0002t0001g0196 others(79): Show |
85 | 268 | 0.3172 | -1 | c.306 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35734470 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(81): Show |
a0001a0004a0005others(12): Show | a0001c0002a0001c0003a0004c0005others(17): Show | a0001c0002t0001a0001c0003t0001a0004c0005t0001others(17): Show | a0001c0002t0001g0007 a0001c0002t0001g0020 a0001c0002t0001g0045 others(78): Show |
84 | 268 | 0.3134 | -1 | c.306 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35734709 | CT | C | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG02717.hp2 others(2): Show |
a0003a0013a0032 | a0003c0004a0013c0017a0032c0036 | a0003c0004t0001a0013c0017t0001a0032c0036t0001 | a0003c0004t0001g0121 a0003c0004t0001g0122 a0003c0004t0001g0124 others(2): Show |
5 | 268 | 0.0187 | -1 | c.306 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35736922 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(225): Show |
a0001a0002a0003others(31): Show | a0001c0002a0001c0003a0002c0001others(39): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(39): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0020 others(222): Show |
228 | 268 | 0.8508 | -1 | c.306 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35743691 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp2 others(43): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0003a0002c0001others(8): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(8): Show | a0001c0002t0001g0020 a0001c0002t0001g0050 a0001c0002t0001g0051 others(43): Show |
46 | 268 | 0.1716 | -1 | c.333 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35746623 | GA | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(117): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0003a0002c0001others(13): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(13): Show | a0001c0002t0001g0007 a0001c0002t0001g0020 a0001c0002t0001g0022 others(117): Show |
120 | 268 | 0.4478 | -1 | c.333 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35759115 | GT | G | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02602.hp1 others(25): Show |
a0005a0006a0010others(4): Show | a0005c0006a0006c0008a0010c0013others(4): Show | a0005c0006t0001a0006c0008t0001a0010c0013t0001others(4): Show | a0005c0006t0001g0001 a0005c0006t0001g0104 a0005c0006t0001g0106 others(22): Show |
28 | 268 | 0.1045 | -1 | c.346 others(9): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35759856 | GT | G | intron_variant | MODIFIER | NA18950.hp2 NA18963.hp1 NA18971.hp2 others(8): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0001 a0005c0006t0001g0172 a0005c0006t0001g0173 others(5): Show |
11 | 268 | 0.0410 | -1 | c.362 others(9): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35760014 | TA | T | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02976.hp1 others(1): Show |
a0014a0017a0031 | a0014c0019a0017c0018a0031c0051 | a0014c0019t0001a0017c0018t0001a0031c0051t0001 | a0014c0019t0001g0015 a0014c0019t0001g0105 a0017c0018t0001g0151 others(1): Show |
4 | 268 | 0.0149 | -1 | c.362 others(9): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 25/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35760360 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(57): Show |
a0001a0003a0004others(11): Show | a0001c0002a0001c0003a0003c0004others(15): Show | a0001c0002t0001a0001c0003t0001a0003c0004t0001others(15): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0067 others(57): Show |
60 | 268 | 0.2239 | -1 | c.362 others(9): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 25/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35763775 | AG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(123): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0003a0002c0001others(17): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(17): Show | a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0044 others(123): Show |
126 | 268 | 0.4702 | -1 | c.380 others(8): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 26/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35770685 | GT | G | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 NA18951.hp1 others(4): Show |
a0004a0006 | a0004c0005a0006c0007 | a0004c0005t0001a0006c0007t0001 | a0004c0005t0001g0119 a0006c0007t0001g0181 a0006c0007t0001g0182 others(4): Show |
7 | 268 | 0.0261 | -1 | c.380 others(9): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35771949 | TG | T | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG00673.hp1 others(32): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0002c0001others(11): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(11): Show | a0001c0002t0001g0084 a0001c0003t0001g0030 a0002c0001t0001g0002 others(31): Show |
35 | 268 | 0.1306 | -1 | c.394 others(9): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 27/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35775258 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(61): Show |
a0001a0003a0004others(13): Show | a0001c0002a0001c0003a0003c0004others(18): Show | a0001c0002t0001a0001c0003t0001a0003c0004t0001others(18): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0044 others(61): Show |
64 | 268 | 0.2388 | -1 | c.407 others(9): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35784129 | AT | A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(20): Show |
a0005a0010a0014others(4): Show | a0005c0006a0010c0013a0014c0019others(4): Show | a0005c0006t0001a0010c0013t0001a0014c0019t0001others(4): Show | a0005c0006t0001g0001 a0005c0006t0001g0172 a0005c0006t0001g0173 others(17): Show |
23 | 268 | 0.0858 | -1 | c.444 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35785636 | AC | A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(22): Show |
a0003a0005a0010others(5): Show | a0003c0004a0005c0006a0010c0013others(5): Show | a0003c0004t0001a0005c0006t0001a0010c0013t0001others(5): Show | a0003c0004t0001g0069 a0005c0006t0001g0001 a0005c0006t0001g0172 others(19): Show |
25 | 268 | 0.0933 | -1 | c.444 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35785728 | CT | C | intron_variant | MODIFIER | HG01256.hp1 HG01891.hp2 HG02109.hp1 others(24): Show |
a0003a0004a0005others(6): Show | a0003c0004a0004c0005a0005c0006others(6): Show | a0003c0004t0001a0004c0005t0001a0005c0006t0001others(6): Show | a0003c0004t0001g0069 a0004c0005t0001g0112 a0004c0005t0001g0216 others(21): Show |
27 | 268 | 0.1008 | -1 | c.444 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35787260 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp2 HG01496.hp2 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0003a0002c0001a0004c0012others(2): Show | a0001c0003t0001a0002c0001t0001a0004c0012t0001others(2): Show | a0001c0003t0001g0087 a0001c0003t0001g0088 a0002c0001t0001g0209 others(7): Show |
10 | 268 | 0.0373 | -1 | c.444 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35796609 | CA | C | intron_variant | MODIFIER | HG01192.hp2 HG02145.hp1 HG02486.hp2 others(3): Show |
a0002a0003 | a0002c0001a0002c0041a0003c0004 | a0002c0001t0001a0002c0041t0001a0003c0004t0001 | a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0153 others(3): Show |
6 | 268 | 0.0224 | -1 | c.483 others(9): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35801512 | CA | C | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG00741.hp1 others(58): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0003a0002c0001others(17): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(17): Show | a0001c0002t0001g0008 a0001c0002t0001g0022 a0001c0002t0001g0045 others(55): Show |
61 | 268 | 0.2276 | -1 | c.501 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35804716 | TA | T | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG00741.hp1 others(60): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0003a0002c0001others(17): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(17): Show | a0001c0002t0001g0008 a0001c0002t0001g0022 a0001c0002t0001g0050 others(57): Show |
63 | 268 | 0.2351 | -1 | c.501 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35808252 | CT | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01074.hp2 others(3): Show |
a0001a0004a0007others(1): Show | a0001c0002a0004c0005a0007c0016others(1): Show | a0001c0002t0001a0004c0005t0001a0007c0016t0001others(1): Show | a0001c0002t0001g0085 a0004c0005t0001g0163 a0007c0016t0001g0156 others(3): Show |
6 | 268 | 0.0224 | -1 | c.537 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35811674 | AG | A | intron_variant | MODIFIER | HG01109.hp1 HG02717.hp2 HG02809.hp2 others(4): Show |
a0001a0003a0018 | a0001c0002a0003c0004a0018c0020 | a0001c0002t0001a0003c0004t0001a0018c0020t0001 | a0001c0002t0001g0195 a0001c0002t0001g0197 a0003c0004t0001g0121 others(4): Show |
7 | 268 | 0.0261 | -1 | c.538 others(10): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 36/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35814118 | GT | G | intron_variant | MODIFIER | HG01099.hp1 HG02451.hp2 HG02976.hp2 others(2): Show |
a0007a0010 | a0007c0011a0007c0044a0010c0013 | a0007c0011t0001a0007c0044t0001a0010c0013t0001 | a0007c0011t0001g0142 a0007c0011t0001g0143 a0007c0011t0001g0144 others(2): Show |
5 | 268 | 0.0187 | -1 | c.538 others(9): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEGNB_chr2_219491131_219503287 | 219496348 | TC | T | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00438.hp1 HG00673.hp2 others(10): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 13 | 376 | 0.0346 | -1 | c.1-3 others(4): Show |
SPEGNB | ENSG00000286095.3 | transcript | ENST00000651166.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219435490 | CT | C | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02559.hp2 others(5): Show |
a0001a0002a0018others(5): Show | a0001c0069a0002c0004a0018c0071others(5): Show | a0001c0069t0001a0002c0004t0001a0018c0071t0001others(5): Show | a0001c0069t0001g0021 a0002c0004t0001g0016 a0018c0071t0001g0023 others(5): Show |
8 | 304 | 0.0263 | -1 | c.388 others(8): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219446714 | TG | T | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 HG02809.hp2 |
a0011a0029 | a0011c0015a0029c0022 | a0011c0015t0002a0029c0022t0002 | a0011c0015t0002g0221 a0011c0015t0002g0223 a0029c0022t0002g0222 |
3 | 304 | 0.0099 | -1 | c.816 others(9): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 3/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219446975 | CT | C | intron_variant | MODIFIER | HG01975.hp2 HG03471.hp2 HG03579.hp1 others(4): Show |
a0001a0004a0020 | a0001c0002a0004c0012a0020c0025 | a0001c0002t0001a0004c0012t0002a0020c0025t0001 | a0001c0002t0001g0012 a0001c0002t0001g0239 a0004c0012t0002g0233 others(4): Show |
7 | 304 | 0.0230 | -1 | c.816 others(8): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 3/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219447213 | TG | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(273): Show |
a0001a0002a0003others(42): Show | a0001c0001a0001c0002a0001c0019others(74): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(84): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(257): Show |
276 | 304 | 0.9079 | -1 | c.816 others(8): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 3/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219456908 | CA | C | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01257.hp1 others(56): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0069a0001c0076others(20): Show | a0001c0002t0001a0001c0002t0002a0001c0069t0001others(23): Show | a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0060 others(52): Show |
59 | 304 | 0.1941 | -1 | c.244 others(10): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 6/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219457975 | GC | G | intron_variant | MODIFIER | HG01975.hp2 HG03471.hp2 HG03579.hp1 |
a0001a0020 | a0001c0002a0020c0025 | a0001c0002t0001a0020c0025t0001 | a0001c0002t0001g0012 a0001c0002t0001g0239 a0020c0025t0001g0012 |
3 | 304 | 0.0099 | -1 | c.244 others(10): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 6/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219458396 | CT | C | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02630.hp2 others(6): Show |
a0002a0005a0025 | a0002c0003a0005c0006a0005c0081others(1): Show | a0002c0003t0002a0005c0006t0002a0005c0081t0002others(1): Show | a0002c0003t0002g0255 a0005c0006t0002g0003 a0005c0006t0002g0110 others(4): Show |
9 | 304 | 0.0296 | -1 | c.244 others(10): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 6/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219463392 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00738.hp1 others(44): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0010others(20): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(23): Show | a0001c0001t0001g0033 a0001c0001t0001g0173 a0001c0002t0001g0072 others(41): Show |
47 | 304 | 0.1546 | -1 | c.270 others(10): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 8/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219464121 | TA | T | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01993.hp2 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0004others(8): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0002others(8): Show | a0001c0001t0001g0156 a0001c0002t0001g0250 a0002c0004t0002g0137 others(9): Show |
12 | 304 | 0.0395 | -1 | c.270 others(9): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 8/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219474378 | CA | C | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00642.hp1 others(113): Show |
a0001a0002a0005others(27): Show | a0001c0001a0001c0077a0002c0003others(45): Show | a0001c0001t0001a0001c0077t0001a0002c0003t0002others(48): Show | a0001c0001t0001g0280 a0001c0077t0001g0241 a0002c0003t0002g0005 others(109): Show |
116 | 304 | 0.3816 | -1 | c.444 others(9): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 18/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219474795 | CT | C | intron_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01891.hp2 others(16): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0069others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0069t0001others(14): Show | a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0002t0001g0135 others(16): Show |
19 | 304 | 0.0625 | -1 | c.444 others(9): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 18/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPEG_chr2_219429843_219498629 | 219476158 | TG | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(134): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0037others(23): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(123): Show |
137 | 304 | 0.4507 | -1 | c.444 others(9): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 18/40 | chr2 | TogoVar | |||||||
SPEG_chr2_219429843_219498629 | 219488408 | TA | T | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 NA20300.hp2 others(1): Show |
a0001a0015 | a0001c0001a0015c0040 | a0001c0001t0001a0015c0040t0001 | a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0144 others(1): Show |
4 | 304 | 0.0132 | -1 | c.785 others(8): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 32/40 | chr2 | TogoVar | |||||||
SPEG_chr2_219429843_219498629 | 219496348 | TC | T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00673.hp1 others(7): Show |
a0006 | a0006c0007a0006c0053 | a0006c0007t0002a0006c0053t0002 | a0006c0007t0002g0040 a0006c0007t0002g0047 a0006c0007t0002g0050 others(7): Show |
10 | 304 | 0.0329 | -1 | c.*35 others(6): Show |
SPEG | ENSG00000072195.15 | transcript | ENST00000312358.12 | protein_coding | 2720 | chr2 | TogoVar | |||||||
SPEM1_chr17_7415324_7426632 | 7416384 | CT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(70): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0006t0001g0001 others(2): Show |
73 | 398 | 0.1834 | -1 | c.-40 others(6): Show |
SPEM1 | ENSG00000181323.8 | transcript | ENST00000323675.4 | protein_coding | 3939 | chr17 | TogoVar | |||||||
SPEM1_chr17_7415324_7426632 | 7419509 | TC | T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01069.hp1 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0007t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0001 others(5): Show |
101 | 398 | 0.2538 | -1 | c.-87 others(5): Show |
SPEM1 | ENSG00000181323.8 | transcript | ENST00000323675.4 | protein_coding | 814 | chr17 | TogoVar | |||||||
SPEM1_chr17_7415324_7426632 | 7423214 | CA | C | downstream_gene_variant | MODIFIER | HG01257.hp1 HG01884.hp2 HG01952.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0001 a0004c0004t0001g0001 |
12 | 398 | 0.0302 | -1 | c.*16 others(6): Show |
SPEM1 | ENSG00000181323.8 | transcript | ENST00000323675.4 | protein_coding | 1583 | chr17 | TogoVar |