| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNCA_chr4_89719099_89842161 | 89805215 | C | CTTTGCAT others(35): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 | 1 | 338 | 0.0030 | 42 | c.306 others(61): Show |
SNCA | ENSG00000145335.17 | transcript | ENST00000394991.8 | protein_coding | 4/5 | chr4 | TogoVar | ||||||
| SNIP1_chr1_37529449_37559293 | 37535230 | T | TTATATAT others(35): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG02735.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0041a0001c0001t0046 | a0001c0001t0017g0162a0001c0001t0017g0176a0001c0001t0017g0194others(3): Show | 6 | 394 | 0.0152 | 42 | c.*25 others(53): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 2517 | chr1 | TogoVar | |||||
| SNIP1_chr1_37529449_37559293 | 37535239 | T | TATATATA others(35): Show |
3_prime_UTR_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0025a0001c0001t0029g0131 | 3 | 394 | 0.0076 | 42 | c.*25 others(53): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 2508 | chr1 | TogoVar | |||||
| SNTG1_chr8_49906407_50801692 | 49938603 | T | TTTTCTTT others(35): Show |
intron_variant | MODIFIER | HG01978.hp2 HG03017.hp1 HG03942.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0004g0078a0001c0001t0008g0091a0001c0002t0001g0077others(2): Show | 5 | 106 | 0.0472 | 42 | c.-10 others(63): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SNTG1_chr8_49906407_50801692 | 50701579 | T | TTTCTTCT others(35): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03453.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0008a0003c0004t0005 | a0001c0001t0008g0071a0003c0004t0005g0040 | 2 | 106 | 0.0189 | 42 | c.103 others(61): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1051157 | T | TCCCCCTT others(35): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0165 | 1 | 190 | 0.0053 | 42 | c.73- others(59): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1222031 | A | ATCTCTGT others(35): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0144 | 1 | 190 | 0.0053 | 42 | c.719 others(61): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1222041 | C | CTGCCTCT others(35): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03209.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0180a0004c0004t0001g0181 | 2 | 190 | 0.0105 | 42 | c.719 others(61): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1222107 | C | CTCTGCCT others(35): Show |
intron_variant | MODIFIER | HG04115.hp2 NA19030.hp2 |
a0001a0004 | a0001c0002a0004c0004 | a0001c0002t0001a0004c0004t0001 | a0001c0002t0001g0112a0004c0004t0001g0149 | 2 | 190 | 0.0105 | 42 | c.719 others(61): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1222117 | C | CTCTGCCT others(35): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0184 | 1 | 190 | 0.0053 | 42 | c.719 others(61): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1222117 | C | CTCTGTCT others(35): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0021 | a0021c0030 | a0021c0030t0001 | a0021c0030t0001g0160 | 1 | 190 | 0.0053 | 42 | c.719 others(61): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1222130 | T | TGCCTATC others(35): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 190 | 0.0053 | 42 | c.719 others(61): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1255875 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 190 | 0.0053 | 42 | c.100 others(61): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1278920 | A | ACGCGAAT others(35): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(51): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0002a0003c0007others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(14): Show | a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0039others(51): Show | 54 | 190 | 0.2842 | 42 | c.128 others(63): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNX10_chr7_26286862_26379383 | 26325306 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 390 | 0.0026 | 42 | c.-23 others(61): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SNX27_chr1_151607050_151704080 | 151652206 | G | GGGAGAGG others(35): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0175 | a0001c0001t0175g0041 | 1 | 366 | 0.0027 | 42 | c.544 others(59): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SNX29_chr16_11971734_12579287 | 12381079 | T | TCCACCCA others(35): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0020 | a0001c0020t0010 | a0001c0020t0010g0167 | 1 | 176 | 0.0057 | 42 | c.190 others(63): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SNX2_chr5_122770080_122839543 | 122806142 | G | GCGCGCGC others(35): Show |
intron_variant | MODIFIER | NA18967.hp1 NA18975.hp2 |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0063 | a0001c0002t0009g0153a0001c0002t0063g0154 | 2 | 372 | 0.0054 | 42 | c.644 others(59): 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(35): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0010 | 1 | 338 | 0.0030 | 42 | c.125 others(61): 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(35): Show |
intron_variant | MODIFIER | HG00099.hp1 NA19079.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0014a0002c0003t0004g0018 | 2 | 338 | 0.0059 | 42 | c.125 others(61): Show |
SNX30 | ENSG00000148158.17 | transcript | ENST00000374232.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| SNX9_chr6_157818246_157950077 | 157844587 | G | GTTTTTTT others(35): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 302 | 0.0033 | 42 | c.12+ others(59): 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(35): Show |
intron_variant | MODIFIER | HG02056.hp1 NA19063.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006a0002c0002t0002g0012 | 2 | 302 | 0.0066 | 42 | c.12+ others(59): 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(35): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0035 | 1 | 302 | 0.0033 | 42 | c.949 others(59): 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(35): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 358 | 0.0028 | 42 | c.-12 others(61): Show |
SOCS6 | ENSG00000170677.6 | transcript | ENST00000397942.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| SON_chr21_33538038_33582481 | 33545858 | G | GTTTTTTT others(35): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0157 | 1 | 364 | 0.0028 | 42 | c.78- others(55): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| SORBS2_chr4_185580523_185817194 | 185588587 | T | TCTCCTTC others(35): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 312 | 0.0032 | 42 | c.384 others(59): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 26/26 | chr4 | TogoVar | ||||||
| SORCS2_chr4_7187538_7747827 | 7216950 | C | CGGTTCCT others(35): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01070.hp1 others(57): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(55): Show | a0001c0001t0002g0089a0001c0001t0003g0048a0001c0001t0007g0063others(57): Show | 60 | 168 | 0.3571 | 42 | c.480 others(61): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SORCS2_chr4_7187538_7747827 | 7216950 | C | CGGTTCCT others(35): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0130 | 1 | 168 | 0.0060 | 42 | c.480 others(61): 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(35): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0013 | 1 | 168 | 0.0060 | 42 | c.481 others(61): 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(35): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0004 | 1 | 168 | 0.0060 | 42 | c.481 others(61): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SORCS2_chr4_7187538_7747827 | 7539680 | A | ACCCCCGT others(35): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0129 | 1 | 168 | 0.0060 | 42 | c.648 others(59): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SORCS3_chr10_104636290_105270242 | 105016155 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 134 | 0.0075 | 42 | c.955 others(61): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| SOX5_chr12_23524504_23954670 | 23530818 | T | TGTGTGTG others(35): Show |
3_prime_UTR_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0152 | 1 | 212 | 0.0047 | 42 | c.*34 others(53): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 15/15 | 3400 | chr12 | TogoVar | |||||
| SP3_chr2_173895775_173970373 | 173939764 | C | CAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0113 | 1 | 356 | 0.0028 | 42 | c.163 others(63): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
| SP7_chr12_53321575_53341354 | 53337654 | A | AAGAAAAA others(35): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 370 | 0.0027 | 42 | c.-15 others(53): Show |
SP7 | ENSG00000170374.6 | transcript | ENST00000536324.4 | protein_coding | 1301 | chr12 | TogoVar | ||||||
| SPAAR_chr9_35904490_35916686 | 35906547 | T | TCCACCAC others(35): Show |
upstream_gene_variant | MODIFIER | NA18939.hp2 NA18986.hp2 NA18991.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0002 | 7 | 420 | 0.0167 | 42 | c.-33 others(53): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2942 | chr9 | TogoVar | ||||||
| SPAAR_chr9_35904490_35916686 | 35906586 | T | TCCACCAC others(35): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 420 | 0.0024 | 42 | c.-32 others(53): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2903 | chr9 | TogoVar | ||||||
| SPAAR_chr9_35904490_35916686 | 35906598 | A | ACCACCAC others(35): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 42 | c.-32 others(53): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2891 | chr9 | TogoVar | ||||||
| SPAAR_chr9_35904490_35916686 | 35906604 | C | CCCACCAC others(35): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 42 | c.-32 others(53): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2885 | chr9 | TogoVar | ||||||
| SPAG16_chr2_213279464_214415501 | 213833577 | A | ATTATATA others(35): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0055 | 1 | 86 | 0.0116 | 42 | c.107 others(63): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | chr2 | TogoVar | ||||||
| SPAG16_chr2_213279464_214415501 | 214059224 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 86 | 0.0116 | 42 | c.152 others(63): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SPATA13_chr13_24155720_24312069 | 24190234 | T | TATAACAT others(35): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0225 | 1 | 356 | 0.0028 | 42 | c.-11 others(63): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
| SPATA13_chr13_24155720_24312069 | 24309283 | T | TTATATAT others(35): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 NA18948.hp1 NA18960.hp2 |
a0001a0015 | a0001c0002a0001c0003a0015c0028 | a0001c0002t0001a0001c0003t0111a0015c0028t0027 | a0001c0002t0001g0084a0001c0003t0111g0299a0015c0028t0027g0329 | 3 | 356 | 0.0084 | 42 | c.*65 others(53): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2215 | chr13 | TogoVar | ||||||
| SPATA13_chr13_24155720_24312069 | 24309283 | T | TTTTATAT others(35): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0274 | 1 | 356 | 0.0028 | 42 | c.*65 others(53): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2215 | chr13 | TogoVar | ||||||
| SPATA17_chr1_217626344_217876696 | 217749985 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0025 | 1 | 252 | 0.0040 | 42 | c.519 others(59): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SPATA18_chr4_52046304_52102299 | 52054897 | A | AACATGGT others(35): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046 | 1 | 308 | 0.0033 | 42 | c.87+ others(57): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SPATA5_chr4_122918078_123324433 | 123118313 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0167 | 1 | 262 | 0.0038 | 42 | c.234 others(63): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SPATA6_chr1_48290373_48477204 | 48384337 | A | AGAGGGGG others(35): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 322 | 0.0031 | 42 | c.909 others(57): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | ||||||
| SPDYE10_chr7_73099008_73160431 | 73134537 | A | AAGAAAGA others(35): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02486.hp2 HG02622.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0002a0001c0002t0001a0003c0006t0012 | a0001c0001t0002g0167a0001c0002t0001g0072a0001c0002t0001g0108others(1): Show | 4 | 216 | 0.0185 | 42 | c.-63 others(63): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
| SPDYE16_chr7_76526313_76548297 | 76541960 | T | TGTACAAG others(35): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0048 | 1 | 255 | 0.0039 | 42 | c.-42 others(57): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 1/8 | chr7 | TogoVar |