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 | 50597380 | C | CACGTATA others(33): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01978.hp1 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0039 | a0001c0002t0006g0064 a0001c0002t0039g0075 |
2 | 12 | 0.1667 | 40 | c.849 others(57): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1031528 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0008 | 1 | 81 | 0.0123 | 40 | c.73- others(57): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1051157 | T | TCCCCCTT others(33): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02071.hp1 HG02132.hp2 others(26): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0002c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(9): Show | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0130 others(26): Show |
29 | 126 | 0.2302 | 40 | c.73- others(57): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1099589 | C | CAGTGAGG others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0002c0003others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(28): Show | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 others(124): Show |
127 | 166 | 0.7651 | 40 | c.325 others(57): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1099590 | A | AGTGAGGG others(33): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02486.hp1 HG02615.hp1 others(2): Show |
a0002a0003a0005 | a0002c0005a0003c0007a0005c0006 | a0002c0005t0001a0003c0007t0001a0003c0007t0002others(1): Show | a0002c0005t0001g0100 a0003c0007t0001g0007 a0003c0007t0001g0104 others(2): Show |
5 | 158 | 0.0316 | 40 | c.325 others(57): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222073 | G | GTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0042 | 1 | 149 | 0.0067 | 40 | c.719 others(59): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222139 | C | CTCTCTGT others(33): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0129 | 1 | 175 | 0.0057 | 40 | c.719 others(59): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1255875 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02300.hp1 HG03942.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0092 others(1): Show |
4 | 136 | 0.0294 | 40 | c.100 others(59): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1369634 | A | ATGATGGC others(33): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02451.hp1 others(20): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0033others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(15): Show | a0001c0001t0001g0144 a0001c0002t0001g0069 a0001c0002t0002g0002 others(20): Show |
23 | 188 | 0.1223 | 40 | c.*21 others(51): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 2022 | chr2 | TogoVar | |||||||
SNX10_chr7_26286862_26379383 | 26325304 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 384 | 0.0026 | 40 | c.-23 others(59): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNX10_chr7_26286862_26379383 | 26325306 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG02004.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0272 others(6): Show |
9 | 15 | 0.6000 | 40 | c.-23 others(59): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNX10_chr7_26286862_26379383 | 26325319 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0165 | 1 | 388 | 0.0026 | 40 | c.-23 others(59): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNX14_chr6_85500496_85598858 | 85539935 | T | TTTTTATT others(33): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 125 | 0.0080 | 40 | c.144 others(59): Show |
SNX14 | ENSG00000135317.14 | transcript | ENST00000314673.8 | protein_coding | 15/28 | chr6 | TogoVar | |||||||
SNX24_chr5_122840613_123014205 | 122913546 | A | AGGGCGGC others(33): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256 | 1 | 328 | 0.0030 | 40 | c.61- others(57): Show |
SNX24 | ENSG00000064652.11 | transcript | ENST00000261369.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNX27_chr1_151607050_151704080 | 151681235 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 119 | 0.0084 | 40 | c.115 others(59): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12512369 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0128 | 1 | 36 | 0.0278 | 40 | c.217 others(61): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX2_chr5_122770080_122839543 | 122806142 | G | GCGCGCAC others(33): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0174 | 1 | 15 | 0.0667 | 40 | c.644 others(57): Show |
SNX2 | ENSG00000205302.7 | transcript | ENST00000379516.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNX2_chr5_122770080_122839543 | 122806142 | G | GCGCGCGC others(33): Show |
intron_variant | MODIFIER | NA19010.hp2 NA19082.hp2 |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0024 | a0001c0002t0009g0210 a0001c0002t0024g0204 |
2 | 16 | 0.1250 | 40 | c.644 others(57): Show |
SNX2 | ENSG00000205302.7 | transcript | ENST00000379516.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNX30_chr9_112745760_112879987 | 112865661 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0008 | 1 | 76 | 0.0132 | 40 | c.125 others(59): Show |
SNX30 | ENSG00000148158.17 | transcript | ENST00000374232.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNX30_chr9_112745760_112879987 | 112865661 | A | ATATGTGT others(33): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0319 | 1 | 76 | 0.0132 | 40 | c.125 others(59): Show |
SNX30 | ENSG00000148158.17 | transcript | ENST00000374232.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNX30_chr9_112745760_112879987 | 112865661 | A | ATGTGTGT others(33): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02148.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0015 a0002c0003t0004g0017 |
2 | 77 | 0.0260 | 40 | c.125 others(59): Show |
SNX30 | ENSG00000148158.17 | transcript | ENST00000374232.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNX8_chr7_2246770_2319441 | 2302895 | C | CCTCCGCC others(33): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 368 | 0.0027 | 40 | c.94+ others(57): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157844587 | G | GTTTTTTT others(33): Show |
intron_variant | MODIFIER | NA18977.hp2 NA19007.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0046 a0002c0002t0002g0047 |
2 | 224 | 0.0089 | 40 | c.12+ others(57): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157844587 | G | GTTTTTTT others(33): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19003.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0013 a0002c0002t0002g0016 |
2 | 224 | 0.0089 | 40 | c.12+ others(57): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0022 | 1 | 191 | 0.0052 | 40 | c.949 others(57): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0045 | 1 | 191 | 0.0052 | 40 | c.949 others(57): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOCS6_chr18_70284045_70335199 | 70317554 | T | TACATATA others(33): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 227 | 0.0044 | 40 | c.-12 others(59): Show |
SOCS6 | ENSG00000170677.6 | transcript | ENST00000397942.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SOCS7_chr17_38346844_38410593 | 38387133 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0018 | 1 | 194 | 0.0052 | 40 | c.168 others(59): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SORCS1_chr10_106568663_107169706 | 106878620 | G | GTGTATAT others(33): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 | 1 | 36 | 0.0278 | 40 | c.627 others(59): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 107065415 | T | TTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG06807.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0007 | a0001c0001t0004g0015 a0001c0004t0007g0046 |
2 | 11 | 0.1818 | 40 | c.558 others(59): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0111 | 1 | 31 | 0.0323 | 40 | c.481 others(59): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 31 | 0.0323 | 40 | c.481 others(59): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7540161 | T | TCTCCCTG others(33): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0038 | a0001c0038t0032 | a0001c0038t0032g0128 | 1 | 16 | 0.0625 | 40 | c.648 others(57): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7543899 | T | TCCATCCA others(33): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp2 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0003a0001c0010t0060 | a0001c0002t0003g0028 a0001c0010t0060g0167 |
2 | 159 | 0.0126 | 40 | c.648 others(59): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7658241 | G | GAGAGAAT others(33): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0118 | 1 | 168 | 0.0060 | 40 | c.888 others(57): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104818360 | T | TCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 16 | 0.0625 | 40 | c.628 others(59): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SOX18_chr20_64042582_64054639 | 64042812 | G | GGGGTCGT others(33): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 253 | 0.0040 | 40 | c.*53 others(51): Show |
SOX18 | ENSG00000203883.7 | transcript | ENST00000340356.9 | protein_coding | 4769 | chr20 | TogoVar | |||||||
SOX18_chr20_64042582_64054639 | 64042875 | G | GGGGTCGT others(33): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(81): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(14): Show |
84 | 337 | 0.2493 | 40 | c.*52 others(51): Show |
SOX18 | ENSG00000203883.7 | transcript | ENST00000340356.9 | protein_coding | 4706 | chr20 | TogoVar | |||||||
SOX18_chr20_64042582_64054639 | 64042917 | G | GGGGTCGT others(33): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG03491.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 4 | 332 | 0.0120 | 40 | c.*52 others(51): Show |
SOX18 | ENSG00000203883.7 | transcript | ENST00000340356.9 | protein_coding | 4664 | chr20 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23530818 | T | TGTGTGTG others(33): Show |
3_prime_UTR_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0192 | 1 | 153 | 0.0065 | 40 | c.*34 others(51): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 15/15 | 3400 | chr12 | TogoVar | ||||||
SOX5_chr12_23524504_23954670 | 23715292 | C | CAAAATAA others(33): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0149 | 1 | 127 | 0.0079 | 40 | c.810 others(59): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16349674 | G | GAGGGAGG others(33): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 123 | 0.0081 | 40 | c.-5+ others(55): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230436866 | G | GTATATGT others(33): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01081.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(5): Show | a0001c0001t0002g0105 a0001c0001t0004g0050 a0001c0001t0010g0130 others(7): Show |
10 | 232 | 0.0431 | 40 | c.108 others(57): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230436866 | G | GTATATGT others(33): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG01167.hp2 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0002g0274 others(46): Show |
49 | 271 | 0.1808 | 40 | c.108 others(57): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230497534 | G | GAGGAAAG others(33): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18974.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0063 a0001c0003t0003g0188 |
2 | 198 | 0.0101 | 40 | c.164 others(57): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230497544 | G | GAGGAAAG others(33): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0153 | 1 | 143 | 0.0070 | 40 | c.164 others(57): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230497544 | G | GAGGAGAG others(33): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0256 | 1 | 143 | 0.0070 | 40 | c.164 others(57): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPACA3_chr17_32986847_33002877 | 33001210 | G | GTATATGA others(33): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 468 | 0.0021 | 40 | c.*34 others(51): Show |
SPACA3 | ENSG00000141316.13 | transcript | ENST00000269053.8 | protein_coding | 3334 | chr17 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213860433 | A | ATATCTAT others(33): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 HG02976.hp2 |
a0001a0005a0010 | a0001c0001a0005c0005a0010c0011 | a0001c0001t0002a0005c0005t0001a0010c0011t0001 | a0001c0001t0002g0067 a0005c0005t0001g0081 a0010c0011t0001g0086 |
3 | 70 | 0.0429 | 40 | c.107 others(59): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG17_chr1_117948590_118190228 | 118089354 | T | TGTGTGTG others(33): Show |
intron_variant | MODIFIER | NA19064.hp1 NA19065.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 a0002c0002t0001g0042 |
2 | 208 | 0.0096 | 40 | c.135 others(59): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 10/48 | chr1 | TogoVar |